PERSONAL...31. What regulates mitochondrial DNA copy number in animal cells? Moraes, C. T. Trends Genet 17, 199-205. (2001) 32. Studying Mitochondria of Animal Cells [Issue Editor

Curriculum Vitae Carlos T. Moraes 1

1. Date: October 20, 2018

PERSONAL

2. Name: Carlos Torres Moraes 3. Home Phone: (305) 856-2662 4. Work Phone: (305) 243-5858 5. Home Address: 2510 Lincoln Avenue, Miami, FL 33133 6. Current Academic Rank: Professor (Esther Lichtenstein Professor) 7. Primary Department: Neurology 8. Secondary Appointment: Cell Biology 9. Citizenship: American/Brazilian (dual)

HIGHER EDUCATION

10. Institutional: Department of Genetics and Development, Columbia University; Ph.D.; February/1993 Department of Genetics and Development, Columbia University; M.A.; February/1991 Department of Biochemistry Escola Paulista de Medicina, São Paulo, S.P. Brazil; M.Sc.; July/1987 Biomedical Sciences Escola Paulista de Medicina, São Paulo, S.P. Brazil; Baccalaureate; December/1983 12. Non-institutional: None 13. Certification, licensure: None

EXPERIENCE

14. Biological Research Training Programs

Structure of glycosaminoglycans and interactions with cellular matrix proteins. Department of Biochemistry - Escola Paulista de Medicina, São Paulo - Brazil M.Sc. candidate; Supervisor: Helena B. Nader, Ph.D. January/1984 - June/1987

Structure of trypanosomatids glycoproteins

Instituto de Investigaciones Bioquimicas "Fundacion Campomar", Buenos Aires - Argentina Research Fellow; Supervisor: Armando J. Parodi, Ph.D March/1986 - November/1986


Molecular basis of Mitochondrial Encephalomyopathies Department of Genetics & Development - Columbia University, New York - USA Ph.D. candidate and Postdoctoral fellow; Supervisors: Eric A. Schon Ph.D. and Salvatore

DiMauro MD. September/1987 - June/1993

Mitochondrial Function/Dysfunction

Department of Neurology - University of Miami School of Medicine Research Assistant Professor, June/1993 - June/1995 Assistant Professor June/1995 – May/1997 Associate Professor (with tenure) June/1997 – May/2003

Professor June 2003 - Present

15. Non-Academic: None 16. Military: None

PUBLICATIONS

17. Peer-reviewed book and special issue chapters:

1. Clinical and Biochemical studies on Cytochrome Oxidase deficiencies.

Schon, E.A., Bonilla, E., Lombes, A., Moraes, C.T., Nakase, H., Rizzuto, R., Zeviani, M. and DiMauro, S. Annals of New York Academy of Sciences, 550: 348-359. (1988)

2. Mitochondrial Encephalomyopathies DiMauro, S, Zeviani, M, Moraes,C.T., Nakase, H, Rizzuto, R, Lombes, A, Shanske, S, and

Schon, E.A. Genetics of Neuromuscular Disorders, pp. 117-128. Alan Liss, Inc. New York, NY (1989).

3. Mitochondrial Diseases

DiMauro, S., Lombes, A., Nakase, H., Zeviani, M., Rizzuto, R., Moraes,C.T., and Schon, E.A. Molecular Basis of Membrane-Associated Diseases. Azzi, A., Drahota, Z., and Papa, S. eds. pp 157-166. Springer-Verlag Press, Berlin, Heidelberg (1989).

4. Mitochondrial Encephalomyopathies

DiMauro, S., Bonilla, E., Lombes, A., Shanske, S., Minetti, C., Moraes, C.T. Neurological Clinics 8: 483-506 (1990).

5. Doenças Mitocondriais

Moraes, C.T., DiMauro, S., Schmidt, B., Schon, E.A. Ciencia Hoje (in Portuguese)12: 46-52 (1990)

6. Mitochondrial Diseases: Toward a Rational Classification

Moraes, C.T., Schon, E.A., & DiMauro, S. Current Neurology, vol 11. Appel, S.H. ed., Mosby Year Book. pp 83-120 (1991)


7. Mitochondrial Encephalomyopathies- A Biochemical Approach

DiMauro, S., Moraes, C.T., Shanske, S., Lombes, A., Nakase, H., Mita, S., Tritchler, H.J., Bonilla, E., Miranda, A.F., & Schon, E.A.

Reveu Neurologique (Paris) 147: 443-449 (1991)

8. Mitochondrial Encephalomyopathies: Problems of Classification

DiMauro, S., Moraes, C.T., & Schon, E.A. Progress in Neuropathology, vol. 7. Sato, T. & DiMauro, S. eds. Raven Press, Ltd., New York. pp 113-127 (1991)

9. Analysis of giant deletions of human mitochondrial DNA in Progressive External

Ophthalmoplegia Schon, E.A., Moraes, C.T., Mita, S., et al. Molecular Basis of Neurological Disorders and

their treatment. Gorrod J.W., Albano, O., Ferrari, E. & Papa, S. eds. Chapman and Hall ltd. London, pp 209-220 (1991).

10. Mitochondrial Myopathies

Schon, E.A., Tritchler, H.J., Moraes, C.T., Arnaudo, E., DiMauro, S., & Bonilla, E. International Pediatrics 7: 23-27 (1992)

11. New morphological approaches to the study of mitochondrial encephalomyopathies

Bonilla, E., Sciacco, M., Tanji, K., Sparaco, M., Petruzzella, V., & Moraes, C.T. Brain Pathology 2: 155-162 (1992)

12. Disorders associated with depletion of mitochondrial DNA

Ricci, E., Moraes, C.T., Servidei, S., Tonali, P., Bonilla, E., & DiMauro, S. Brain Pathology 2: 185-1192 (1992)

13. Mitochondrial encephalomyopathies

DiMauro, S. and Moraes, C.T. Arch. Neurol. 50: 1197-1207 (1993)

14. Quantitative defects of mitochondrial DNA

Moraes, C.T., Ricci, E., Arnaudo, E., Bonilla, E., DiMauro, S., Schon, E.A. Mitochondrial DNA in Human Pathology, DiMauro,S. and Wallace, D. eds. Raven Press,

Ltd., New York. pp. 97-108 (1993)

15. Mitochondrial dysfunction as a mechanism of CNS injury

DiMauro, S., Simonetti, S., Chen, X., Petruzzella, V., Hirano, M, Shanske, S., Moraes, C.T., Schon, E.A. Mollecular and Cellular Approaches to the treatment of Neurological Disease. Waxman, S.G. ed. Raven Press, Ltd., New York. pp 67-79 (1993)

16. Quantitative defects of mitochondrial DNA in human pathologies

Moraes, C.T. International Pediatrics 8:40-44 (1993)

17. Mitochondrial diseases: defects of mitochondrial DNA

Moraes, C.T., DiMauro, and Schon, E.A. New Trends in Pediatric Neurology. Fejerman, N. and Chamoles, N.A. eds. Elsevier Science, Amsterdan. pp 227-232 (1993)

18. Cytochrome oxidase deficiency: progress and problems

Curriculum Vitae Carlos T. Moraes 4 DiMauro, S., Hirano, M., Bonilla, E., Moraes, C.T., Schon, E.A. Mitochondrial Disorders in Neurology. Schapira, A.H.V. and DiMauro, S. eds. Butterworth-

Heinemann, Oxford. pp 91-115 (1994)

19. Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions.

Moraes, C.T., Siacco, M., Ricci, E., Tengan, C.H., Hao, H., Bonilla, E., Schon, E.A., DiMauro, S. Muscle & Nerve, 18 supplement 3: S150-S153 (1995).

20. Replication of a heteroplasmic population of normal and partially-deleted human

mitochondrial genomes.

Moraes, C.T. and Schon, E.A. Progress in Cell Research: Symposium on "Thirty Years of Progress in Mitochondrial

Bioenergetics and Molecular Biology". F. Palmieri, S. Papa, C. Saccone, and M.N. Gadaleta, eds., Elsevier, 5: 209-215 (1995).

21. Phenotypical expression and molecular genetics of the nt-3243 mutation in the

mitochondrial tRNALEU(UUR) gene.

Petruzzella, V., Hirano, M., Moraes, C.T., DiMauro, S., Bonilla, E., and Schon, E.A. Bull. Mol. Biol. Med. 20:177-183 (1995).

22. In situ hybridization and single muscle fiber PCR in the study of mitochondrial

genotypes.

Moraes, C.T., and Schon, E.A. Methods in Enzymology. volume Editors: Giuseppe M. Attardi, and Anne Chomyn. (1996),

264:522-540.

23. Mitochondrial disorders

Carlos T. Moraes Current Opinion in Neurology, 9:369-374 (1996)

24. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. 1988 [classical article].

Zeviani, M., Moraes, C. T., DiMauro, S., Nakase, H., Bonilla, E., Schon, E. A. and Rowland, L. P. Neurology, 51:1525 and 8 pages following (1998)

25. Cybrids in Alzheimer's disease: a cellular model of the disease? [letter; comment]. Schon, E. A., Shoubridge, E. A. and Moraes, C. T. Neurology, 51:326-7 (1998)

26. Mitochondrial DNA mutations in human diseases.

Carlos T. Moraes in: MITOCHONDRIAL DNA MUTATIONS IN AGING, DISEASE AND CANCER. Ed Singh, K.K. Chapman & Hall press (1998)

27. What regulates mitochondrial DNA copy number in animal cells?

Moraes, C. T. Trends Genet 17, 199-205. (2001)

28. Transmitochondrial Technology in Animal Cells

Carlos T. Moraes, Runu Dey, and Antoni Barrientos Methods in Cell Biology 65, 397-412 (2001)


29. Reactive Oxygen Species and mitochondrial diseases

Kirkinezos, I.G. and Moraes, C.T. Seminars in Cell & Developmental Biology 12, 449-457 (2001)

30. A Helicase is Born (News & Views)

Moraes, C.T. Nature Genetics 28:200-201. (2001)

31. What regulates mitochondrial DNA copy number in animal cells?

Moraes, C. T. Trends Genet 17, 199-205. (2001)

32. Studying Mitochondria of Animal Cells [Issue Editor and Editorial]

Moraes, C.T. Methods 26, 291 (2002)

33. Mitochondrial DNA structure and function

Moraes CT, Srivastava S, Kirkinezos I, Oca-Cossio J, van Waveren C, Woischnick M, Diaz F. Int Rev Neurobiol 53:3-23 (2002).

34. Techniques And Pitfalls In The Detection Of Pathogenic Mitochondrial DNA Mutations

Carlos T. Moraes, David P. Atencio, Jose Oca-Cossio And Francisca Diaz Journal of Molecular Diagnosis 5:197-208 (2003)

35. Book Review: Genetics of Mitochondrial Diseases. Edited by Ian J. Holt.

Carlos T. Moraes Am. J. Hum. Genet. 75:733, (2004)

36. Defects in the Biosynthesis of Mitochondrial Heme c and Heme a in Yeast and

Mammals Carlos T. Moraes, Franscisca Diaz and Antoni Barrientos BBA – Bioenergetics 1659:153-159 (2004)

37. Mitochondrial Involvement in Amyotrophic Lateral Sclerosis: Trigger or Target?

Sandra R. Bacman, Walter G. Bradley and Carlos T. Moraes* Molecular Neurobiology 33:113-131 (2006)

38. Transmitochondrial technology in animal cells.

Bacman SR, Moraes CT. Methods Cell Biol. 80:503-524 (2007)

39. Microdissection and Analytical PCR for the Investigation of mtDNA Lesions

Williams SL, Moraes CT. Methods Cell Biol. 80:481-501 (2007)

40. Mitochondrial Disorders

Verma, A., Hirano, M. and Moraes CT. Neurology in Clinical Practice (fifth edition). Bradley, Daroff, Fenichel and Jankovic (eds). Elsevier Press. Volume II:1785-1798 (2008)

41. Mitochondrial biogenesis and turnover.

Curriculum Vitae Carlos T. Moraes 6 Diaz F, Moraes CT. Cell Calcium. 44:24-35 (2008)

42. The mitochondrial impairment, oxidative stress and neurodegeneration connection:

reality or just an attractive hypothesis?

Hirokazu Fukui and Carlos T. Moraes Trends in Neurosciences 31: 251-256 (2008)

43. Mouse models of oxidative phosphorylation dysfunction and disease

Uma D. Vempati, Alessandra Torraco and Carlos T. Moraes Methods 46: 241–247 (2008)

44. Mouse models of oxidative phosphorylation defects: Powerful tools to study the

pathobiology of mitochondrial diseases

Alessandra Torraco, Francisca Diaz, Uma D. Vempati and Carlos T. Moraes Biochem. Biophys. Acta 1793: 171–180 (2009)

45. Making the most of what you’ve got: Optimizing residual OXPHOS function in

mitochondrial diseases Carlos T. Moraes EMBO Mol. Med. 1:357-359 (2009)

46. The role of cytochrome c oxidase deficiency in ROS and amyloid plaque formation.

Pickrell AM, Fukui H, Moraes CT. J Bioenerg Biomembr. 41:453-456 (2009).

47. Emerging therapeutic approaches to mitochondrial diseases.

Wenz T, Williams SL, Bacman SR, Moraes CT. Dev Disabil Res Rev. 16:219-29 (2010).

48. What role does mitochondrial stress play in neurodegenerative diseases?

Pickrell AM, Moraes CT. Methods Mol Biol. 648:63-78 (2010).

49. Mitochondrial disorders caused by mutations in respiratory chain assembly factors.

Diaz F, Kotarsky H, Fellman V, Moraes CT. Semin Fetal Neonatal Med.16:197-204 (2011)

50. Mitochondrial DNA transcription regulation and nucleoid organization.

Rebelo AP, Dillon LM, Moraes CT. J Inherit Metab Dis. 34:941-51 (2011)

51. Mitochondrial transcription: Lessons from mouse models.

Susana Peralta, Xiao Wang and Carlos T. Moraes Biochem. Biophys. Acta 1819:961-9 (2012)

52. Regional susceptibilities to mitochondrial dysfunctions in the CNS

Milena Pinto, Alicia M. Pickrell, and Carlos T. Moraes Biolog. Chem. 393: 275–281 (2012)


53. The role of PGC-1 coactivators in aging skeletal muscle and heart.

Dillon LM, Rebelo AP, Moraes CT. IUBMB Life. 64:231-41 (2012).

54. Mouse models of Parkinson's disease associated with mitochondrial dysfunction.

Pickrell AM, Pinto M, Moraes CT. Mol Cell Neurosci. 55:87-94 (2013).

55. Mitochondrial Alterations During Carcinogenesis

Xiao Wand, Susana Peralta and Carlos T. Moraes Advances in Cancer Research, 119:127-60 (2013).

56.Adrenoleukodystrophy and the mitochondrial connection: Clues for supplementing

Lorenzo's oil.

Carlos T. Moraes Brain, 136:2339-41 (2013).

57. Translational research in primary mitochondrial diseases: Challenges and

opportunities.

Moraes CT, Anderson V, Mohan C; Workshop participants. Mitochondrion. Aug 17. doi:pii: S1567-7249 (2013)

58. Mitochondrial genome changes and neurodegenerative diseases.

Pinto M, Moraes CT. Biochim Biophys Acta. S0925-4439(13)00337-2. (2013)

59. Manipulating mitochondrial genomes in the clinic: playing by different rules.

Moraes CT, Bacman SR, Williams SL. Trends Cell Biol.;24:209-11. (2014)

60. A magic bullet to specifically eliminate mutated mitochondrial genomes from patients'

cells.

Moraes CT. EMBO Mol Med.;6:434-5. (2014)

61. The Use of Mitochondria-Targeted Endonucleases to Manipulate mtDNA

Sandra R. Bacman, Sion L. Williams, Milena Pinto, Carlos T. Moraes Methods in Enzymology, 547:373-97 (2014)

62. Mechanisms linking mtDNA damage and aging

Milena Pinto, Carlos T. Moraes Free Rad. Biol. Med., 85:250-8 (2015)

63. Current strategies towards therapeutic manipulation of mtDNA heteroplasmy

Pereira CV, Moraes CT. Front Biosci (Landmark Ed) 22:991-1010 (2017).


64. NO control of mitochondrial function in normal and transformed cells.

Tengan CH, Moraes CT. Biochim Biophys Acta. 1858(8):573-581 (2017).

65. Mitochondrial genome engineering: The revolution may not be CRISPR-ized.

Payam A Gammage, Carlos T. Moraes and Michal Minczuk Trends in Genetics. S0168-9525(17)30191-9. (2017).

66. Mitochondrial DNA damage and reactive oxygen species in neurodegenerative disease.

Nissanka N, Moraes CT. FEBS Lett. 592(5):728-742. (2018).

67. Targeted mitochondrial genome elimination

Bacman SR., Pereira CV, Moraes CT. Mitochondrial Biology and Experimental Therapeutics. PJ Oliveira (ed) Springer Publishing. 535-563 (2018).

18. Juried or refereed original journal articles:

*Corresponding author

1. Isolation and characterization of a heparin with high anticoagulant activity from

Anomalocardia brasiliana.

Dietrich, C.P., Paiva, J.F., Moraes, C.T., Takahashi, H.K., Porcionatto, M.A. & Nader, H.B. Biochimica et Biophysica Acta , 843:1-7 (1985)

2. Structural characterization of several galactofuranose-containing, high mannose type

oligosaccharides present in glycoproteins of the trypanosomatid Leptomonas samueli.

Moraes, C.T., Bosh, M. & Parodi, A.J. Biochemistry, 27: 1543-1549 (1988)

3. Mitochondrial DNA deletions in Kearns-Sayre syndrome

Zeviani, M., Moraes, C.T., DiMauro, S., Nakase, H., Bonilla, E., Schon, E. & Rowland, L.P. Neurology, 38: 1399-1346 (1988)

4. Immunocytochemical study of dystrophin in muscle cultures from patients with

Duchenne muscular dystrophy and unaffected controls. Miranda, A.J., Bonilla, E., Martucci, G., Moraes, C.T., Hays, A.P., and DiMauro, S.

American Journal of Pathology, 132: 410-416. (1988)

5. Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-

Sayre syndrome.

Moraes, C.T., Schon, E.A., DiMauro, S & Miranda, A.F. Biochemical and Biophysical Research Communications, 160: 765-71 (1989).

6. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-

Sayre syndrome.

Curriculum Vitae Carlos T. Moraes 9 Moraes, C.T., DiMauro, S., Zeviani, M., Lombes, A., Shanske, S., Miranda, A. F., Nakase,

H., Bonilla, E., Wernec, L. C., Servidei, S., Nonaka, I., Koga, Y., Spiro, A., Brownell, K. W., Schmidt, B., Schotland, D. L., Zupanc, M. D., DeVivo, D. C., Schon E. A. and Rowland, L. P. New England Journal of Medicine, 320: 1293-1299 (1989).

7. A direct repeat is a "hot spot" for mitochondrial DNA deletions in humans.

Schon, E.A., Rizzuto, R., Moraes, C.T., Nakase, H., Zeviani, M. & DiMauro, S. Science, 244: 346-349 (1989).

8. Recombination via flanking direct repeats is a major cause of large-scale deletions of

human mitochondrial DNA.

Mita, S, Rizzuto, R, Moraes, C.T., Shanske, S., Arnaudo, E., Fabrizi, G.M., Koga, Y., DiMauro, S. and Schon, E.A. Nucleic Acids Research, 18: 561-567 (1990)

9. Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre

syndrome.

Shanske, S., Moraes, C.T., Lombes, A., Miranda, A.F., Bonilla, E., Lewis, P., Whealan, M.A., Ellsworth, C.A., DiMauro, S. Neurology, 40: 24-28 (1990)

10. Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre

syndrome: Implications for pathogenesis.

Nakase, H., Moraes, C.T., Rizzuto, R., Lombes, A., DiMauro, S. and Schon, E.A. American Journal of Human Genetics, 46: 418-427 (1990).

11. Purification and substrate specificity of heparitinase I and heparitinase II from

Flavobacterium heparinum.

Nader, H.B., Porcionatto, M.A., Tersariol, I.L.S., Pinhal, M.A.S., Oliveira, F.W., Moraes, C.T. & Dietrich, C.P. The Journal of Biological Chemistry, 265: 16807-16813 (1990)

12. Mitochondrial DNA depletion with variable tissue expression: A novel genetic

abnormality in mitochondrial diseases.

Moraes, C.T., Shanske, S., Trishler H-J., Aprille, J.R., Bonilla, E., Schon, E.A. and DiMauro, S. American Journal of Human Genetics, 48: 492-501 (1991).

13. Depletion of mitochondrial DNA in AIDS patients with zidovudine-induced myopathy.

Arnaudo, E., Dalakas, M., Shanske, S., Moraes, C.T., DiMauro, S. and Schon, E.A. The Lancet, 337: 508-510 (1991)

14. Replication-competent human mitochondrial DNA lacking the heavy-strand promoter

region.

Moraes, C.T., Andreetta, F., Bonilla, E., Shanske, S., DiMauro, S., and Schon, E.A. Molecular and Cellular Biology, 11: 1631-1637 (1991)

15. Mitochondrial DNA deletions in a girl with manifestations of Kearns-Sayre and Lowe

syndromes: An example of phenotypic mimicry?

Moraes, C.T., Zeviani, M., Schon, E.A., Hickman, R.O., Vlcek, B.W., & DiMauro, S. American Journal of Medical Genetics, 41:301-305 (1991)


16. Deletions of mitochondrial DNA in patients with combined features of Kearns-Sayre

and MELAS syndromes.

Zupanc, M.L., Moraes, C.T., Shanske, S., Langman, C.B., Ciafaloni, E., & DiMauro, S. Annals of Neurology, 29: 680-683 (1991)

17. Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA.

Tritschler, H.-J., Andreetta, F., Moraes, C.T., Bonilla, E., Arnaudo, E., Danon, M.J., Glass, S., Zelaya, B.M., Vamus, E., Telerman-Toppet, N., Shanske, S., Kadembach, B., DiMauro, S., & Schon, E.A. Neurology, 42: 209-217 (1992)

18. The mitochondrial tRNALeu(UUR) mutation in mitochondrial encephalopathy, lactic

acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological

correlations in skeletal muscle.

Moraes, C.T., Ricci, E., Bonilla, E., DiMauro, S. & Schon, E. A. American Journal of Human Genetics, 50: 934-949 (1992).

19. MELAS: clinical features, biochemistry, and molecular genetics.

Ciafaloni, E., Ricci, E., Shanske, S., Moraes, C. T., Silvestri, G., Hirano, M., Simonetti, S., Angelini, C., Donati, A., Garcia, C., Martinuzzi, A., Mosewich, R., Servidei, S., Zammarchi, E., Bonilla, E., DeVivo, D. C., Rowland, L. P., Schon, E. A. and DiMauro, S.

Annals of Neurology 31: 391-398 (1992).

20. Molecular analysis of the muscle pathology associated with mitochondrial DNA

deletions.

Moraes, C. T., Ricci, E., Petruzzella, V., Shanske, S., DiMauro, S., Schon, E.A. and Bonilla, E. Nature Genetics, 1: 359-367 (1992).

21. Fatal infantile liver failure associated with mitochondrial DNA depletion.

Mazziotta, M.R.M., Ricci, E., Bertini, E., Dionisi-Vici, C., Servidei, S., Burlina, A.B., Sabetta, G., Bartuli, A., Manfredi, G., Silvestri, G., Moraes, C.T., DiMauro, S.

Journal of Pediatrics, 121:896-901 (1992).

22. A new mtDNA mutation in the tRNALys gene associated with myoclonic epilepsy and

ragged-red fibers (MERRF).

Silvestri, G., Moraes, C.T., Shanske, S., Oh, S.J., DiMauro, S. American Journal of Human Genetics, 51:1213-1217 (1992).

23. Structural and functional abnormalities associated with high levels of partially deleted

mtDNA in somatic cell hybrids.

Sancho, S., Moraes, C.T., Tanji, K., and Miranda, A.F. Somatic Cell and Molecular Genetics, 18:431-442 (1992).

24. The mitochondrial tRNALeu(UUR) mutation in MELAS: a model for pathogenesis.

Schon, E.A., Koga, Y., Davidson, M., Moraes, C.T., King, M.P. Biochimica et Biophysica Acta, 1101:206-209 (1992).

25. A mitochondrial tRNA anticodon swap associated with a muscle disease.

Moraes, C.T., Ciacci, F., Bonilla, E., Ionascescu, V., Schon, E.A., and DiMauro, S.

Curriculum Vitae Carlos T. Moraes 11 Nature Genetics, 4:284-287 (1993).

26. Atypical clinical presentations associated with the MELAS mutation at position 3243 of

human mitochondrial DNA.

Moraes, C.T., Ciacci, F., Silvestri, G., Shanske, S., Sciacco, M., Hirano, M., Schon, E.A., Bonilla, E., and DiMauro, S.

Neuromuscular Disorders, 3:43-50 (1993).

27. Two novel pathogenic mitochondrial DNA mutations affecting organelle number and

protein synthesis: is the tRNALeu(UUR) gene an etiologic hot spot ?

Moraes, C.T.*, Ciacci, F., Bonilla, E., Jansen, C., Hirano, M., Rao, N., Lovelace, R.E., Rowland, L.P., Schon, E.A., and DiMauro, S.

Journal of Clinical Investigations, 92:2906-2915 (1993).

28. Sequencing of heparan sulfate proteoglycans: identification of variable and constant

oligosaccharide regions in eight heparan sulfate proteoglycans of different origins.

Tersariol, I., Ferreira, T.M., Medeiros, M.G., Porcionatto, M.A., Moraes, C.T., Abreu, L.R.D., Nader, H.B., and Dietrich, C.P.

Brazilian Journal of Medical and Biological Research 27:2097-2102 (1994).

29. Clinical and morphological features of a myopathy associated with a mutation in the

mitochondrial tRNAPro gene. Ionasescu, V.V., Hart, M., DiMauro, S., Moraes, C.T.* Neurology, 44:975-977 (1994)

30. Distribution of wild-type and common deletion forms of mtDNA in normal and

respiration-deficient muscle fibers from patients with mitochondrial myopathy.

Siacco, M., Bonilla, E., Schon, E.A., DiMauro, S., and Moraes, C.T.* Human Molecular Genetics, 3:13-19 (1994).

31. Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative

ragged-red fibers in patients harboring a point mutation at nt 3243.

Petruzzella, V., Moraes, C.T., Bonilla, E., DiMauro, S., and Schon, E.A. Human Molecular Genetics, 3:449-454 (1994)

32. Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene

associated with myopathy and diabetes mellitus.

Hao, H., Bonilla, E., Manfredi, G., DiMauro, S., Moraes, C.T.* American Journal of Human Genetics, 56:1017-1025 (1995).

33. High levels of mitochondrial DNA with an unstable 260 base pair duplication in a

patient with a mitochondrial myopathy

Manfredi, G., Servidei, S., Bonilla, E., Shanke,S, Schon, E., DiMauro, S., and Moraes, C.T.* Neurology, 45:762-768 (1995)

34. A new mutation associated with MELAS is located in a mitochondrial DNA polypetide-

coding gene.

Manfredi, G., Schon, E.A., Moraes, C.T., Bonilla, E., DiMauro, S.

Curriculum Vitae Carlos T. Moraes 12 Neuromuscular Disorders, 5:391-398 (1995)

35. Identification of a mutation in the mitochondrial tRNACys gene associated with

mitochondrial encephalo-myopathy.

Manfredi, G., Schon, E.A., Bonilla, E., Moraes, C.T., Shanske, S., DiMauro, S. Human Mutation, 7:158-163 (1996)

36. Functional and Molecular Mitochondrial Abnormalities Associated with a CT

Transition at Position 3256 of the Human Mitochondrial Genome

Hao, H. and Moraes, C.T.* The Journal of Biological Chemistry 271:2347-2352 (1996).

37. A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243

mutation

Ashok Verma, Carlos T. Moraes, Robert T. Shebert, Walter G. Bradley. Neurology 46:1334-1336 (1996)

38. Detection and analysis of mitochondrial DNA deletions by whole genome PCR

Celia H. Tengan and Carlos T. Moraes* Biochemical and Molecular Medicine 58:130-134 (1996)

39. Functional and structural features of a tandem duplication of the human mitochondrial

DNA promoter region Hao, H., Manfredi, G., Moraes, C. T.* American Journal of Human Genetics 60:1363-1372 (1997)

40. Upregulation of D3 dopamine receptor mRNA in the nucleus accumbens of human

cocaine fatalities Segal, D., Moraes, C.T., Mash, D.C. Molecular Brain Research 45:335-339 (1997)

41. Expanding the functional human mitochondrial DNA database by the establishment of

primate xenomitochondrial cybrids

Lesley Kenyon and Carlos T. Moraes* Proceedings of the National Academy of Sciences USA 94:9131-9135 (1997)

42. A Novel Mitochondrial G8313A Mutation Associated with Prominent Initial

Gastrointestinal Symptoms and Progressive Encephaloneuropathy

Ashok Verma, David A. Piccoli, Eduardo Bonilla, Gerald T. Berry, Salvatore DiMauro, and

Carlos T. Moraes*

Pediatric Research 42:448-454 (1997)

43. Oxidative phosphorylation dysfunction does not increase the rate of accumulation of

age-related mtDNA deletions in skeletal muscle

C.H. Tengan, A.A. Gabbai, S. Shanske, M. Zeviani, C.T. Moraes* Mutation Research 379:1-11 (1997)


44. A Disease-Associated G5703A Mutation in the Human Mitochondrial DNA Causes a

Conformational Change and a Marked Decrease in Steady-State Levels of the

Mitochondrial tRNAAsn

H. Hao and C.T. Moraes* Molecular and Cellular Biology 17:6831-6837 (1997)

45. Mitochondrial DNA defects in Brazilian patients with chronic progressive external

ophtalmoplegia

B.H. Kiyomoto, C.H. Tengan, C.T. Moraes, A.S.B. Oliveira, A.A. Gabbai Journal of Neurological Science 152:160-165 (1997)

46. Mitochondrial Encephalomyopathy and Hypoparathyrodism Associated with a

Duplication and a Deletion of Mitochondrial DNA

C.H. Tengan, B.H. Kiyomoto, M.S. Rocha, V.L.S. Tavares, A.A. Gabbai, C.T. Moraes*

Journal of Clinical Endocrinology & Metabolism 83:125-129 (1998)

47. Simultaneous transfer of mitochondrial DNA and single chromosomes in somatic cells:

a novel approach for the study of defects in nuclear-mitochondrial communication. Barrientos, A. and Moraes, C. T.* Hum Mol Genet, 7:1801-8 (1998)

48. Human xenomitochondrial cybrids. Cellular models of mitochondrial complex I

deficiency. Barrientos, A., Kenyon, L. and Moraes, C. T.* J Biol Chem, 273:14210-7 (1998)

49. Structure of heparan sulfate: identification of variable and constant oligosaccharide

domains in eight heparan sulfates of different origins. Dietrich, C. P., Tersariol, I. L., Toma, L., Moraes, C. T., Porcionatto, M. A., Oliveira, F. W. and Nader, H. B. Cell Mol Biol (Noisy-le-grand), 44:417-29 (1998)

50. Duplication and triplication with staggered breakpoints in human mitochondrial DNA.

Tengan, C. H. and Moraes, C. T.* Biochim Biophys Acta, 1406:73-80 (1998)

51. Dopamine transporter mRNA in autopsy studies of chronic cocaine users. Chen, L., Segal, D. M., Moraes, C. T. and Mash, D. C. Brain Res Mol Brain Res, 73:181-185 (1999)

52. Sequence analysis of the diabetes-protective human leukocyte antigen-DQB1*0602 allele

in unaffected, islet cell antibody-positive first degree relatives and in rare patients with

type 1 diabetes. Pugliese, A., Kawasaki, E., Zeller, M., Yu, L., Babu, S., Solimena, M., Moraes, C. T., Pietropaolo, M., Friday, R. P., Trucco, M., Ricordi, C., Allen, M., Noble, J. A., Erlich, H. A. and Eisenbarth, G. S. J Clin Endocrinol Metab, 84:1722-8 (1999)

53. Mechanisms of human mitochondrial DNA maintenance: the determining role of

primary sequence and length over function. Moraes, C. T.*, Kenyon, L. and Hao, H. Mol Biol Cell, 10:3345-56 (1999)


54. Titrating the effects of mitochondrial complex I impairment in the cell physiology. Barrientos, A. and Moraes, C. T.* J Biol Chem, 274:16188-97 (1999)

55. Suppression of a mitochondrial tRNA gene mutation phenotype associated with changes

in the nuclear background. Hao, H., Morrison, L. E. and Moraes, C. T.* Hum Mol Genet, 8:1117-24 (1999)

56. Lack of Oxidative Phosphorylation and Low Mitochondrial Membrane Potential

Decrease Susceptibility to Apoptosis and Do not Modulate the Protective Effect of Bcl-

xL in Osteosarcoma Cells.

Dey, R. and Moraes, C.T.*. J. Biol. Chem. 275:7087-7094 (2000)

57. Mitochondrial function in heart muscle from patients with idiopathic dilated

cardiomyopathy. Jarreta D., Orus J., Barrientos A., Miro O, Roig E., Heras M., Moraes C.T., Cardellach F., Casademont J. Cardiovasc Res. 45:860-5 (2000).

58. A Novel Myopathy-Associated mtDNA Mutation Altering the Conserved Size of the

tRNAGln Anticodon Loop.

Runu Dey, Celia H. Tengan, Maria P.A. Morita, Beatriz H. Kiyomoto and Carlos T. Moraes*

Neuromuscular Disorders 10:488-492 (2000).

59. Functional Constraints of Nuclear - Mitochondrial DNA Interactions in Xeno-

mitochondrial Rodent Cell Lines

Runu Dey, Antoni Barrientos, and Carlos T. Moraes* J Biol Chem, 275: 31520-31527 (2000).

60. Cloning of an Endangered Species (Bos gaurus) Using Interspecies Nuclear Transfer

Robert P. Lanza, Jose B. Cibelli, Francisca Diaz, Carlos T. Moraes, Peter W. Farin, Charlotte E. Farin, Carolyn J. Hammer, Michael D. West & Philip Damiani Cloning, 2:79-88 (2000).

61.° Tumor Cells: A model for studying whether mitochondria are targets for rhodamine

123, doxorubicin, and other drugs.

Yan-Ping Hu, Carlos T. Moraes, Niramol Savaraj, Waldemar Priebe and Theodore J. Lampidis. Biochemical Pharmacology, 60:1897-1905. (2000).

62. Cytochrome c Oxidase Assembly in Primates is Sensitive to Small Evolutionary

Variations in Amino Acid Sequence

Antoni Barrientos, Stefan Müller, Runu Dey, Johannes Wienberg and Carlos T. Moraes* Molecular Biology and Evolution, 17: 1508-1519 (2000)

63. An out of Frame Cytochrome b Gene Deletion from a Patient with Parkinsonism is

Associated with Impaired Complex III Assembly and Increase in Free Radicals

Production

Michele Rana, Irenaeus de Coo, Francisca Diaz, Hubert Smeets, and Carlos T. Moraes* Annals of Neurology;48:774-781 (2000).

64. Dysfunctional Mitochondrial Respiration in the Wobbler Mouse Brain


Guang-Ping Xu, Kunjan R. Dave, Carlos T. Moraes, Raul Busto, Thomas J. Sick, Walter G. Bradley and Miguel A. Pérez-Pinzón Neuroscience Letters, 300:141-144. (2001)

65. Manipulating mitochondrial DNA heteroplasmy by a mitochondrially targeted

restriction endonuclease Srivastava, S. and Moraes, C.T.* Hum Mol Genet 10: 3093-3099 (2001)

66. Pattern of organization of human mitochondrial pseudogenes in the nuclear genome.

Woischnik M, Moraes CT.* Genome Research 12:885-93. (2002)

67. Generation of histocompatible tissues using nuclear transplantation.

Lanza RP, Chung HY, Yoo JJ, Wettstein PJ, Blackwell C, Borson N, Hofmeister E, Schuch G, Soker S, Moraes CT, West MD, Atala A Nat Biotechnol 20:689-96 (2002)

68. Human mitrochondrial DNA with large deletions repopulates organelles faster than

full-length genomes under relaxed copy number control.

Francisca Diaz, Maria Pilar Bayona-Bafaluy, Michele Rana, Marialejandra Mora, Huiling Hao and Carlos T. Moraes* Nucleic Acids Research, 30:300-310 (2002)

69. Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and

SMA.

Mancuso M, Salviati L, Sacconi S, Otaegui D, Camano P, Marina A, Bacman S, Moraes CT, Carlo JR, Garcia M, Garcia-Alvarez M, Monzon L, Naini AB, Hirano M, Bonilla E, Taratuto AL, DiMauro S, Vu TH. Neurology, 59:1197-202 (2002).

70. Bcl-2 Modulates Adenine Nucleotides influx into Mitochondria and improves Oxidative

Phosphorylation Dysfunction Caused by Mitochondrial tRNA Gene Mutations

Giovanni Manfredi, Jennifer Q. Kwong, Jose A. Oca-Cossio, Markus Woischenick, Katherine Martushova, Marilena D’Aurelio, Carl D. Gajewsky, Carlos T. Moraes

J. Biol. Chem;278:5639-5645 (2003).

71. Regular Exercise is Beneficial to a Mouse Model of Amyotrophic Lateral Sclerosis

Ilias G. Kirkinezos, Dayami Hernandez, Walter G. Bradley and Carlos T. Moraes* Ann. Neurol, 53: 804-807 (2003).

72. Decreased Mitochondrial tRNALys Steady-State Levels and Aminoacylation are

Associated with the Pathogenic G8313A Mitochondrial DNA Mutation

Sandra R. Bacman, David P. Atencio and Carlos T. Moraes* Biochem. J. 374:131-136 (2003).

73. Limitations of Allotopic Expression of Mitochondrial Genes in Mammalian Cells

Jose Oca-Cossio, Lesley Kenyon, Huiling Hao and Carlos T. Moraes*

Genetics165:100-114 (2003)


74. A Chemical Enucleation Method for the Transfer of Mitochondrial DNA to ° Cells.

Maria Pilar Bayona-Bafaluy, Giovanni Manfredi and Carlos T. Moraes* Nucleic Acids Research. 31, e98:4626-4633 (2003)

75. An ALS Mouse Model with a Permeable Blood-Brain Barrier Benefits from Systemic

Cyclosporine A Treatment.

Ilias G. Kirkinezos, Dayami Hernandez, Walter G. Bradley and Carlos T. Moraes* J. Neurochem. 88: 821-826 (2004)

76. Respiratory complex III is required to maintain complex I in mammalian mitochondria

Rebeca Acín-Pérez, María Pilar Bayona-Bafaluy, Patricio Fernández-Silva, Raquel Moreno-Loshuertos, Acisclo Pérez-Martos, Claudio Bruno, Carlos T. Moraes and José A. Enríquez Molecular Cell 13:805-815 (2004)

77. Erythromycin as a Potential Precipitating Agent in the Onset of Leber’s Hereditary

Optic Neuropathy

Corneliu C. Luca,., Byron L. Lam. and Carlos T. Moraes* Mitochondrion 4:31-36 (2004)

78. Heterologous mitochondrial DNA recombination in human cells.

D'Aurelio M, Gajewski CD, Lin M, Mauck W, Shao L, Lenaz G, Moraes CT, Manfredi G.

Hum Mol Genet. 13:3171-3179 (2004)

79. Cytochrome c Association with the Mitochondrial Inner Membrane is Impaired in the

Central Nervous System of G93A-SOD1 Mice Ilias G. Kirkinezos, Sandra R. Bacman, Dayami Hernandez, Jose Oca-Cossio, Laura J. Arias, Miguel A. Perez-Pinzon, Walter G. Bradley, and Carlos T. Moraes*. J. Neurosc. 25:164 –172 (2005)

80. Aberrant PKC Activation in Spinal Cord of Wobbler Mouse: A Model of Motor

Neuron Disease

Kunjan R. Dave, Ami P. Raval, Jesús Purroy, Ilias G. Kirkinezos, Carlos T. Moraes, Walter G. Bradley and Miguel A. Pérez-Pinzón

Neurobiology of Disease 18:126-33 (2005)

81. Fast Adaptive Co-evolution of Nuclear and Mitochondrial Subunits of ATP Synthetase

in Orangutan

Maria Pilar Bayona-Bafaluy, Stefan Müller, Carlos T. Moraes* Mol. Biol. Evol. 22:716-724 (2005)

82. Double-Strand Breaks of Mouse Muscle mtDNA Promote Large-Deletions Similar to

mtDNA Multiple Deletions in Humans

Sarika Srivastava and Carlos T. Moraes* Hum. Mol. Genet. 14:893-902 (2005)

83. Mice lacking COX10 in skeletal muscle recapitulate the phenotype of progressive

mitochondrial myopathies associated with cytochrome c oxidase deficiency Francisca Diaz, Christine K. Thomas, Sofia Garcia, Dayami Hernandez


and Carlos T. Moraes* Hum. Mol. Genet. 14: 2737–2748 (2005)

84. Rapid Directional Shift of Mitochondrial DNA Heteroplasmy in Animal Tissues by a

Mitochondrially-Targeted Restriction Endonuclease Maria Pilar Bayona-Bafaluy, Bas Blits, Brendan Battersby, Eric A. Shoubridge, and Carlos T. Moraes*. Proc. Natl. Acad. Sci. USA 102: 14392–14397 (2005)

85. Oxidative phosphorylation dysfunction modulates expression of extracellular matrix-

remodeling genes and invasion

Corina van Waveren, Yubo Sun, Herman S. Cheung, and Carlos T. Moraes* Carcinogenesis 27:409-418 (2006)

86. Cytochrome c Oxidase is Required for the Assembly/Stability of Respiratory Complex I

in Mouse Fibroblasts

Francisca Diaz, Hirokazu Fukui, Sofia Garcia and Carlos T. Moraes* Molecular and Cellular Biology 26:4872-4881 (2006)

87. Superoxide released into the mitochondrial matrix Danni Li, Bobby G. Poe, Marian Navratil, Carlos T. Moraes and Edgar A. Arriaga Free Radical Biology and Medicine 41:950-959 (2006)

88. Loss of Mcl-1 protein and inhibition of electron transport chain together induce anoxic

cell death. Brunelle JK, Shroff EH, Perlman H, Strasser A, Moraes CT, Flavell RA, Danial NN, Keith B, Thompson CB, Chandel NS. Mol Cell Biol. 27:1222-35 (2007)

89. The Role of Cytochrome c in Apoptosis: Increased Sensitivity to TNF-α is Associated

with Respiratory Defects But Not with Lack of Cytochrome c Release.

Uma D. Vempati, Francisca Diaz, Antoni Barrientos, Sonoko Narisawa, Abdul M. Mian, José Luis Millán, Lawrence H. Boise and Carlos T. Moraes* Mol Cell Biol. 27:1771-1783 (2007)

90. Extended polyglutamine repeats trigger a feedback loop involving the mitochondrial

complex III, the proteasome, and huntingtin aggregates.

Hirokazu Fukui1 and Carlos T. Moraes* Human Molecular Genetics16:783-797 (2007)

91. PGC-1α/β Upregulation is Associated with Improved Oxidative Phosphorylation in

Cells Harboring Nonsense mtDNA Mutations

Sarika Srivastava, John N. Barrett, and Carlos T. Moraes* Human Molecular Genetics 16:993-1005 (2007)

92. The Qo site of the mitochondrial complex III is required for the transduction of

hypoxic signaling via ROS production. Eric L. Bell, Tatyana A. Klimova, James Eisenbart, Carlos T. Moraes, Michael Murphy, G.R. Scott Budinger and Navdeep S. Chandel


J. Cell Biol. 177:1029-1036 (2007)

93. Modulating mtDNA heteroplasmy by mitochondria-targeted restriction endonucleases

in a “differential multiple cleavage-site” model.

Sandra R. Bacman, Sion L. Williams, Dayami Hernandez1 and Carlos T. Moraes* Gene Therapy, 14:1309-1318 (2007)

94. Cytochrome c Oxidase Deficiency in Neurons Decreases both Oxidative Stress and

Amyloid Formation in a Mouse Model of Alzheimer’s Disease. Hirokazu Fukui, Francisca Diaz, Sofia Garcia, Carlos T. Moraes* Proc Natl. Acad. Sci. USA 104 :14163–14168 (2007)

95. Systematic Association Studies of Mitochondrial DNA Variations in Schizophrenia:

Focus on the ND5 Gene. Bamne MN, Talkowski ME, Moraes CT, Manuck SB, Ferrell RE, Chowdari KV,

Nimgaonkar VL. Schizophr Bull. 34: :458-465 (2008)

96. Pathophysiology and Fate of Hepatocytes in a Mouse Model of Mitochondrial

Hepatopathies. Francisca Diaz, Sofia Garcia, Dayami Hernandez, Arie Regev, Adriana Rebelo, Jose Oca-

Cossio and Carlos T. Moraes* GUT 57:232-242 (2008)

97. Transcriptional Co-expression and Co-regulation of Genes Coding for Components of

the Oxidative Phosphorylation System

Corina van Waveren and Carlos T. Moraes* BMC Genomics, 9:18 (2008)

98. A 3’ UTR Modification of the Mitochondrial Rieske Iron Sulfur Protein in Mice Causes

a Skin Pigmentation Phenotype

Sofia Garcia, Francisca Diaz and Carlos T. Moraes* J. Invest. Dermat. 128:2343-5 (2008)

99. Mechanisms of formation and accumulation of mitochondrial DNA deletions in aging

neurons

Hirokazu Fukui and Carlos T. Moraes* Human Molecular Genetics 18:1028-36 (2009)

100. Lack of cytochrome c in mouse fibroblasts disrupts assembly/stability of respiratory

complexes I and IV

Uma D. Vempati, Xianlin Han, Carlos T. Moraes* Journal of Biological Chemistry 284:4383-91 (2009)

101. PGC-1α/β induced expression partially compensates for respiratory chain defects in

cells from patients with mitochondrial disorders

Sarika Srivastava, Francisca Diaz, Luisa Iommarini, Karine Aure, Anne Lombes and Carlos T. Moraes*


Human Molecular Genetics 18:1805-12. (2009)

102. Intra- and inter-molecular recombination of mitochondrial DNA after in vivo

induction of multiple double-strand breaks Sandra R. Bacman, Sion L. Williams and Carlos T. Moraes* Nucl. Acid Res. 37:4218-4226 (2009)

103. In vivo methylation of mtDNA reveals the dynamics of protein-mtDNA interactions

Adriana Rebelo, Sion L. Williams and Carlos T. Moraes* Nucl. Acid Res. 37:6701-6715 (2009)

104. Organ-specific shifts in mtDNA heteroplasmy following systemic delivery of a

mitochondria-targeted restriction endonuclease. Bacman SR, Williams SL, Garcia S, Moraes CT*.

Gene Ther. 17:713-20. (2010)

105. Mitochondrial myopathy induces a starvation-like response.

Tyynismaa H, Carroll CJ, Raimundo N, Ahola-Erkkilä S, Wenz T, Ruhanen H, Guse K, Hemminki A, Peltola-Mjøsund KE, Tulkki V, Oresic M, Moraes CT, Pietiläinen K, Hovatta I, Suomalainen A.

Hum Mol Genet. 19:3948-58 (2010).

106. The mtDNA mutation spectrum of the progeroid Polg mutator mouse includes

abundant control region multimers.

Siôn L. Williams, Jia Huang, Yvonne JK Edwards, Richard Ulla, Lloye Dillon, Tomas Prolla, Jeffery Vance, Carlos T. Moraes* and Stephan Züchner*

Cell Metabolism. 12:675-82. (2010) (*co-corresponding authors)

107. The Striatum is Highly Susceptible to Mitochondrial Oxidative Phosphorylation

Dysfunctions

Alicia M. Pickrell, Hirokazu Fukui, Xiao Wang, Milena Pinto, and Carlos T. Moraes* The Journal of Neuroscience, 31:9895-9904 (2011).

108. A metabolic shift induced by a PPAR panagonist markedly reduces the effects of

pathogenic mitochondrial tRNA mutations

Tina Wenz, Xiao Wang, Matteo Marini and Carlos T. Moraes* Journal of Cellular and Molecular Medicine, 15:2317-25 (2011)

109. Increases in Mitochondrial Biogenesis Impair Carcinogenesis at Multiple Levels

Xiao Wang, and Carlos T. Moraes* Molecular Oncology, 5:399-409 (2011)

110. Striatal Dysfunctions Associated with Mitochondrial DNA Damage in Dopaminergic

Neurons of a Mouse Model of Parkinson’s Disease

Alicia M. Pickrell, Milena Pinto, Aline Hida and Carlos T. Moraes* The Journal of Neuroscience;31:17649-58 (2011).


111. Manipulation of mtDNA heteroplasmy in all striated muscles of newborn mice by

AAV9-mediated delivery of a mitochondria-targeted restriction endonuclease.

Bacman SR, Williams SL, Duan D, Moraes CT*. Gene Ther.;19:1101-6 (2012).

112. Cells lacking Rieske Iron Sulfur Protein have a ROS-associated decrease in respiratory

complexes I and IV.

Diaz F, Enriquez JA, Moraes CT.* Mol Cell Biol.; 32:415-29 (2012)

113. Increase in muscle mitochondrial biogenesis does not prevent muscle loss but increased

tumor size in a mouse model of acute cancer-induced cachexia

Xiao Wang, Alicia M. Pickrell, Teresa A. Zimmers and Carlos T. Moraes* PLoS ONE; 7(3):e33426. Epub (2012)

114. Increase Mitochondrial Biogenesis in Muscle Improves Aging Phenotypes in the

mtDNA Mutator Mouse.

Lloye M. Dillon, Sion L. Williams, Aline Hida, Jacqueline D. Peacock, Tomas A. Prolla, Joy Lincoln and Carlos T. Moraes*

Human Molecular Genetics, 21:2288-97 (2012)

115. Glycolytic oligodendrocytes maintain myelin and long-term axonal integrity

Ursula Funfschilling, Lotti M. Supplie, Don Mahad, Susann Boretius, Aiman Saab, Julia Edgar, Bastian G. Brinkmann, Celia M. Kassmann, Iva D. Tzvetanova, Wiebke Moebius, Francisca Diaz, Dies Meijer, Ueli Sute, Bernd Hamprecht, Michael W. Sereda, Carlos T. Moraes, Jens Frahm, Sandra Goebbels, and Klaus-Armin Nave. Nature, 485:517-21 (2012)

116. Mitochondrial dysfunction induced by heat stress in cultured rat CNS neurons.

White MG, Saleh O, Nonner D, Barrett EF, Moraes CT, Barrett JN. J Neurophysiol.,108:2203-14 (2012).

117. A defect in the mitochondrial Complex III, but not Complex IV, triggers early ROS

dependent damage in defined brain regions.

Francisca Diaz*, Sofia Garcia, Kyle R. Padgett and Carlos T. Moraes Human Molecular Genetics, 21:5066-77 (2012)

118. Long-term bezafibrate treatment improves skin and spleen phenotypes of the mtDNA

mutator mouse.

Dillon LM, Hida A, Garcia S, Prolla TA, Moraes CT.* PLoS One,7:e44335 (2012).

119. Nitric Oxide Synthesis Is Increased in Cybrid Cells with m.3243A->G Mutation.

Gamba J, Gamba LT, Rodrigues GS, Kiyomoto BH, Moraes CT, Tengan CH. Int J Mol Sci., 14:394-410 (2012)

120. Specific elimination of mutant mitochondrial genomes in patient–derived cells by

mitoTALENs


Sandra R. Bacman, Siôn L. Williams, Milena Pinto, Susana Peralta and Carlos T. Moraes* Nature Medicine, 19:1111-3. (2013).

121. Mitochondrial DNA damage in a mouse model of Alzheimer’s disease decreases Aβ

plaque formation

Milena Pinto, Alicia M. Pickrell, Hirokazu Fukui and Carlos T. Moraes* Neurobiology of Aging, 34:2399-407 (2013).

122. Transient systemic mtDNA damage leads to muscle wasting by reducing the satellite

cells pool.

Xiao Wang, Alicia M. Pickrell, Susana G. Rossi, Milena Pinto, Lloye M. Dillon, Aline Hida, Richard L. Rotundo, and Carlos T. Moraes*. Hum. Mol. Genet., 22:3976-86 (2013).

123. Overexpression of Twinkle-helicase protects cardiomyocytes from genotoxic stress

caused by reactive oxygen species.

Pohjoismäki JL, Williams SL, Boettger T, Goffart S, Suomalainen A, Moraes CT, Braun T. Proc Natl Acad Sci U S A. 110:19408-13 (2013).

124. Somatic mtDNA Mutation Spectra in the Aging Human Putamen

Siôn L. Williams, Deborah C. Mash, Stephan Züchner and Carlos T. Moraes* PLoS Genet, 9(12): e1003990 (2013).

125. Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect

both apoptosis and cellular bioenergetics.

De Rocco D, Cerqua C, Goffrini P, Russo G, Pastore A, Meloni F, Nicchia E, Moraes CT, Pecci A, Salviati L, Savoia A. Biochim Biophys Acta, 1842:269-274 (2014)

126. Partial Complex I deficiency due to the CNS conditional ablation of Ndufa5 results in a

mild encephalopathy and no increase in oxidative damage

Susana Peralta, Alessandra Torraco, Tina Wenz, Sofia Garcia, Francisca Diaz and Carlos T. Moraes*. Hum. Mol. Genet. 23:1399-412 (2014)

127. The Mitochondrial Metallochaperone SCO1 Is Required to Sustain Expression of the

High-Affinity Copper Transporter CTR1 and Preserve Copper Homeostasis Christopher J. Hlynialuk, Binbing Ling, Zakery N. Baker, Paul A. Cobine, Lisa D. Yu, Aren Boulet, Timothy Wai, Amzad Hossain, Amr M. El Zawily, Pamela J. McFie, Scot J. Stone, Francisca Diaz, Carlos T. Moraes, Deepa Viswanathan, Michael J. Petris, Scot C. Leary Cell Reports. 10, 933–943 (2015).

128. Selective Elimination of Mitochondrial Mutations in the Germline by Genome Editing

Pradeep Reddy, Alejandro Ocampo, Keiichiro Suzuki, Jinping Luo, Sandra R. Bacman, Sion L. Williams, Atsushi Sugawara, Daiji Okamura, Yuji Tsunekawa, David Lam, Nuria Monsterrat, Concepcion Rodriguez Esteban, Ignacio Sancho-Martinez, Dolors Manau, Salva Civico, Francesc Cardellach, Maria del Mar O’Callaghan, Jaume Campistol, Huimin Zhao, Josep Maria Campistol, Carlos T. Moraes, Juan Carlos Izpisua Belmonte.

Curriculum Vitae Carlos T. Moraes 22 Cell. 161, 459–469 (2015)

129. MitoTALEN: A general approach to reduce mutant mtDNA loads and restore

oxidative phosphorylation function in mitochondrial diseases.

Hashimoto M, Bacman SR, Peralta S, Falk MJ, Chomyn A, Chan DC, Williams SL, Moraes CT*. Mol Ther. 23:1592-9 (2015)

130. Cre recombinase activity is inhibited in vivo but not ex vivo by a mutation in the

asymmetric spacer region of the distal loxP site.

Arguello T, Moraes CT.* Genesis. 53:695-700 (2015)

131. Enhanced Transcriptional Activity and Mitochondrial Localization of STAT3 Co-

induce Axon Regrowth in the Adult Central Nervous System

Xueting Luo, Marcio Ribeiro, Eric R. Bray, Do-Hun Lee, Benjamin J. Yungher, Saloni T. Mehta, Kinjal A. Thakor, Francisca Diaz, Jae K. Lee, Carlos T. Moraes, John L. Bixby, Vance P. Lemmon, Kevin K. Park. Cell Reports. 15:398-410 (2016)

132. Pioglitazone ameliorates the phenotype of a novel Parkinson's disease mouse model by

reducing neuroinflammation.

Pinto M, Nissanka N, Peralta S, Brambilla R, Diaz F, Moraes CT*. Mol Neurodegener. 11(1):25 (2016)

133. Sustained AMPK activation improves muscle function in a mitochondrial myopathy

mouse model by promoting muscle fiber regeneration Susana Peralta, Garcia Sofia, Han Yang Yin, Arguello Tania, Francisca Diaz and Carlos T. Moraes*. Hum. Mol. Genet. 25(15):3178-3191 (2016).

134. The CoQH2/CoQ Ratio Serves as a Sensor of Respiratory Chain Efficiency. Guarás A, Perales-Clemente E, Calvo E, Acín-Pérez R, Loureiro-Lopez M, Pujol C, Martínez-Carrascoso I, Nuñez E, García-Marqués F, Rodríguez-Hernández MA, Cortés A, Diaz F, Pérez-Martos A, Moraes CT, Fernández-Silva P, Trifunovic A, Navas P, Vazquez J, Enríquez JA. Cell Rep.15:197-209 (2016).

135. Transient mitochondrial DNA double strand breaks in mice cause accelerated aging

phenotypes in a ROS-dependent but p53/p21-independent manner.

Milena Pinto, Alicia M. Pickrell, Xiao Wang, Sandra R. Bacman, Aixin Yu, Aline Hida, Lloye M. Dillon, Paul D. Morton, Thomas R. Malek, Siôn L. Williams, and Carlos T. Moraes*. Cell Death and Differ. 24:288-299 (2017).

136. Phosphorylation of Cytochrome c Threonine 28 Regulates Electron Transport Chain

Activity in Kidney: Implications for AMP Kinase


Gargi Mahapatra, Ashwathy Varughese, Qinqin Ji, Icksoo Lee, Jenney Liu, Asmita Vaishnav, Christopher Sinkler, Alexandr A Kapralov, Carlos T Moraes, Thomas H Sanderson, Timothy L Stemmler, Lawrence I Grossman, Valerian E Kagan, Joseph S Brunzelle, Arthur R Salomon, Brian F.P. Edwards, and Maik Hüttemann J. Biol. Chem. 292:64-67 (2017).

137. Respiration-Deficient Astrocytes Survive as Glycolytic Cells In Vivo.

Lotti Marianna Supplie, Tim Du king, Graham Campbell, Francisca Diaz, Carlos T. Moraes,

Magdalena Gotz, Bernd Hamprecht, Don Mahad and Klaus-Armin Nave

J. Neurosci. 37:4231-4242 (2017).

138. Mitochondrial DNA Double-Strand Breaks in Oligodendrocytes Cause Demyelination,

Axonal Injury, and CNS Inflammation. Madsen PM, Pinto M, Patel S, McCarthy S, Gao H, Taherian M, Karmally S, Pereira CV, Dvoriantchikova G, Ivanov D, Tanaka KF, Moraes CT, Brambilla R. J Neurosci. 37:10185-10199 (2017).

139. Lack of Parkin anticipates the phenotype and affects mitochondrial morphology and

mtDNA levels in a mouse model of Parkinson’s Disease.

Milena Pinto, Nadee Nissanka, Carlos T. Moraes* J Neurosci. 38:1042-1053 (2018).

140. Overexpression of PGC-1 in aging muscle enhances a sub-set of young-like molecular

patterns. Sofia Garcia, Nadee Nissanka, Edson A. Mareco, Susana Rossi, Susana Peralta, Francisca Diaz, Richard L. Rotundo, Robson F. Carvalho, Carlos T. Moraes*. Aging Cell 17(2). doi: 10.1111/acel.12707 (2018)

141. SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated

with cellular copper deficiency.

Rebelo AP, Saade D, Pereira CV, Farooq A, Huff TC, Abreu L, Moraes CT, Mnatsakanova D, Mathews K, Yang H, Schon EA, Zuchner S, Shy ME. Brain. 141(3):662-672. (2018)

142. The Mitochondrial DNA Polymerase Gamma Degrades Linear DNA Fragments

Precluding the Formation of Deletions Nadee Nissanka, Sandra R. Bacman, Melanie J. Plastini, and Carlos T. Moraes* Nature Communications 9(1):2491. doi: 10.1038/s41467-018-04895-1 (2018).

143. MitoTev-TALE: a monomeric DNA editing enzyme to reduce mutant mitochondrial

DNA levels Claudia V. Pereira, Sandra R. Bacman, Tania Arguello, Ugne Zekonyte, Sion L. Williams,

David R. Edgell and Carlos T. Moraes* EMBO Mol. Med. pii: e8084. doi: 10.15252/emmm.201708084 (2018).

144. ATAD3 controls mitochondrial cristae structure, influencing mtDNA replication and

cholesterol levels in muscle

Curriculum Vitae Carlos T. Moraes 24 Susana Peralta, Steffi Goffart, Sion L. Williams, Francisca Diaz, Sofia Garcia, Nadee

Nissanka, Estela Area-Gomez, Jaakko Pohjoismäki, Carlos T. Moraes* J. Cell Sci 131(13). pii: jcs217075. doi: 10.1242/jcs.217075 (2018).

145. Mitochondrial methionyl N-formylation affects oxidative phosphorylation complexes

steady-state levels and their organization into supercomplexes. Arguello T, Köhrer C, RajBhandary UL, Moraes CT.* J Biol Chem. pii: jbc.RA118.003838. doi: 10.1074/jbc.RA118.003838 (2018).

146. Ablation of cytochrome c in adult forebrain neurons impairs oxidative

phosphorylation without detectable apoptosis.

Pinto Milena, Uma D. Vempati, Francisca Diaz, Susana Peralta, Carlos T. Moraes*. Mol Neurobiol. doi: 10.1007/s12035-018-1335-y (2018).

147. MitoTALEN reduces mutant mtDNA load and restores tRNAAla levels in a mouse

model of heteroplasmic mtDNA mutation

Sandra R. Bacman, Johanna H. K. Kauppila, Claudia V. Pereira, Nadee Nissanka, Maria Miranda, Milena Pinto, Sion L. Williams, Nils- Göran Larsson, James B. Stewart and Carlos T. Moraes*

Nature Medicine doi: 10.1038/s41591-018-0166-8. (2018). 20. Other work accepted for publication:

PROFESSIONAL

21. Funded research:

Active

PI- Moraes, C.T. Mitochondrial Dysfunction in Neurodegeneration and Compensatory Approaches The National Institute of Health (NIA, 1R01AG036871-06). June/1/10 - May/03/20 Direct costs: $245,000/Year

PI- Moraes, C.T. Setting the stage for replacement of mitochondrial genes The National Institute of Health (NEI, 5R01EY010804-19). Aug/1/95 - April/30/21 Direct costs: $295,000/Year

Co-PI (Caicedo-A and Moraes,C.T.) Imaging mitochondrial signaling in B-cells ectopically implanted in the eye. The National Institute of Health (NIEHS, 1R33ES025673) May/1/2015-September 14/2020

Direct costs: $250,000/Year

PI- Moraes, C.T. Monomeric Gene Editing Enzymes to Treat Mitochondrial Myopathies (MDA573406),"


Muscular Dystrophy Association. August/1/2018 – July/31/2021 Direct Costs: 99,805/year

Past

PI- Moraes, C.T.

Mouse Models with Defective Respiratory Complexes in the CNS The National Institute of Health (NINDS, 1R01NS079965) July/1/2012-June/30/2017 Direct costs: $219,000/Year

PI- Moraes, C.T.

Reducing the levels of mtDNA mutations by mitochondrial nucleases The Muscular Dystrophy Association (May/1/14-April/30/17)

Direct Costs: $100,000/year PI- Moraes, C.T. Developing specific mitochondrial nucleases to eliminate mutant mtDNA United Mitochondrial Disease Foundation (September 2014-August 2016) Direct Costs: $60,000/year PI- Moraes, C.T. The Role of Mitochondrial Oxidative Phosphorylation Dysfunction in Alzheimers Ed and Ethel Moore Alzheimer¹s Disease Research Program (FL Biomedical Research Foundation) (January 2015-June 2015) Direct Costs: $200,000

PI- Moraes, C.T. Increased Mitochondrial Biogenesis as Therapy to Mitochondrial Myopathies The Muscular Dystrophy Association (July/1/10-June/30/13)

Direct Costs: $113,000/year PI- Moraes, C.T.

Mouse Models with Defective Respiratory Complexes in the CNS The National Institute of Health (NINDS, 5R56NS041777). Sept/1/10 - Aug/30/11 Direct costs: $277,000/Year (no-cost extension to Aug/30/2012)

PI- Barrientos, A. Co-PI- Moraes, C.T.

Mitochondrial Biogenesis in Florida Biomedical Research Foundation (January/10-December/11)

Direct Costs: $330,000/year

PI- Moraes, C.T. The role of oxidative phosphorylation in cell growth and death The National Institute of Health (NCI, 2R01CA085700-05). Dec/1/00 - Nov/30/10 Direct costs: $163,000/year PI- Moraes, C.T.

Curriculum Vitae Carlos T. Moraes 26 Mouse Models with Defective Respiratory Complexes in the CNS The National Institute of Health (NINDS, 5R01NS041777). Apr/1/01 - March/31/10 Direct costs: $250,000/year PI- Moraes, C.T. Mitochondrial involvement in Parkinson Disease The Parkinson Disease Foundation (July/08-June/09) Direct Costs: $50,000/year

PI- Moraes, C.T. Studying and Protecting Motor Neuron’s Mitochondria in ALS The Muscular Dystrophy Association. July/1/03 - September/30/06 Direct costs: $90,000/year

PI- Moraes, C.T. Exploring nuclear-mitochondrial interactions The National Institute of Health (NIGMS, 5R01GM055766-08). July/1/97 - August/30/05

(no-cost extension to 8/06) Direct costs: $200,000/year

PI- Moraes, C.T.

Studying and Protecting Motor Neuron’s Mitochondria in ALS The Muscular Dystrophy Association. July/1/00 - June/30/03 Direct costs: $70,000/year

PI- Moraes, C.T.

Detection and Molecular Analysis of Pathogenic Mitochondrial DNA Mutations The Muscular Dystrophy Association. July/1/97 - June/30/00 Direct costs: $50,000/year PI- Moraes, C.T.

Developing an animal model of Parkinson Disease The National Parkinson Foundation July/1/00-June/30/01

Direct costs: $40,000/year

PI- Moraes, C.T. Pew Scholar in the Biomedical Sciences. July/1/95 - June/30/99 Direct costs: $50,000/year PI- Moraes, C.T. Mitochondrial Complex I Deficiency in Parkinson's Disease National Parkinson Foundation August/1/ 95 - July/31/ 96 Direct costs: $39,627/year PI- Moraes, C.T. Detection and Molecular Analysis of Pathogenic Mitochondrial DNA Mutations The Muscular Dystrophy Association. July/1/94 - June/30/97 Direct costs: $176,000

Curriculum Vitae Carlos T. Moraes 27 22. Editorial Responsibilities: Special Editor for mitochondrial DNA mutations reports- Neuromuscular Disorders (1994-

2000). Assistant Editor - Mitochondrion (2000-present) Editorial Board – Human Molecular Genetics (2008-present)

Ad hoc reviewer for: Neurology, Proceedings of the National Academy of Sciences, Nature Genetics, Science, Science Translational Medicine, Molecular Cell, Cell, Cell Metabolism, American Journal of Human Genetics, Annals of Neurology, PLoS Genetics, Molecular and Cellular Biology, Human Molecular Genetics, Analytical Biochemistry, American Journal of Medical Genetics, Journal of Neurochemistry, Journal of Neuroscience, Pediatric Research, Journal of Neuropathology and Experimental Neurology, Mitochondrion, Genes Chromosomes and Cancer, Biotechniques, Nucleic Acids Research, and Neuromuscular Disorders.

23. Professional organizations: American Society for the Advancement of Science, The

American Society of Human Genetics (1995-2010). American Society of Gene & Cell Therapy: ASGCT (2014-2016).

24. Awards and Honors

External Review Committee. Welcome Centre for Mitochondrial Research. Newcastle, UK (November 2018).

Scientific Advisory Board, Max Planck institute for the Biology of Aging, Cologne, Germany. (2012-2018)

Member of Scientific Advisory Committee. Muscular Dystrophy Association. [1999-2004]; [2007- present]

DOD Grant Review Member (October 2015). NIEHS Intramural Program Review Committee (Ad Hoc). July 2015 and November 2017. NINDS Neurological Sciences and Disorders B (NSD-B) Review Group (Regular Member)

2014-2018 FASEB Summer Research Conference on “Mitochondrial Assembly and Dynamics in Health,

Disease and Aging” Organizer (May 2017). FDA Advisor for mtDNA manipulation in Reproductive Techniques. Cellular, Tissue and Gene

Therapies Advisory Committee meeting on Feb. 25-26, 2014. Esther Lichtenstein Professor of Neurology Chair, January 2014-present External Advisory Review member. Program Project at the Houston Merritt Center at

Columbia University (2009-2015). NIH-UMDF Workshop on Primary Mitochondrial Disorders (Co-Chair). Bethesda, March 2012. NIH Neural Oxidative Metabolism and Death (NOMD) Review Group (Regular Member) 2010-

2013 United Mitochondrial Disease Foundation- Chair, Scientific and Medical Advisory Board

(2009-2012) United Mitochondrial Disease Foundation- Chair, Annual Meeting Scientific Program

Committee (2010) United Mitochondrial Disease Foundation Scientific and Medical Advisory Board (2006-2012) NIH ZRG1 MOSS-L (07). Muscle Biology Special Emphasis Panel. 2008

Curriculum Vitae Carlos T. Moraes 28 Provost Award for Scholarly Activity, University of Miami, 2005 NIH Mammalian Genetic (Now Genetics of Health and Disease [GHD]) Review Group

(Regular Member) 2002-2006 NIH Mammalian Genetic Review Group (Ad Hoc). 2001 NIH ZRG1 SSS5(02) Special Emphasis Panel. 2003 NIH Molecular Cytology Special Emphasis Panel. 1998 NIH Chemistry and Related Sciences Special Emphasis Panel. 1998 National Eye Institute (NIH). Committee on "Development of a National Plan for Vision

Research 1999-2003" National Heart, Lung, and Blood Institute (NIH). Scientific Review Committee for RFA: HL-

96-013 (Mitochondrial DNA Mutations in Heart, Lung and Blood) 1997 VA ad hoc Merit Grants Reviewer (1996) Pew Scholar in the Biomedical Sciences (1995-1999). The Samuel W. Rover and Lewis Rover Award for Research in Genetics & Development. 5/93.

25. Post-doctoral fellowships: none 26. Invited Lectures

1. Large-scale deletions of mitochondrial DNA in patients with Neuromuscular diseases.

Pan-American Association of Biochemical Societies (PAABS) VI Congress. São Paulo, Brazil. 2/90

2. New genetic abnormalities of mitochondrial DNA in mitochondrial diseases

1991 Annual Meeting of the Society for Inherited Metabolic Disorders. Santa Fé, New Mexico, USA. 4/91

3. Quantitative errors of mtDNA in mitochondrial diseases

Meeting on Mitochondrial Encephalomyopathies: Defects of Mitochondrial DNA International School of Neurological Sciences, S. Servolo, Venice, Italy. 11/91

4. Mitochondrial Disorders: Defects of mitochondrial DNA

Congress of the International Association of Child Neurology. Buenos Aires, Argentina 11/92

5. Quantitative defects of mitochondrial DNA

Third Annual Miami Children's Hospital Research Institute Symposium: "Genetics, Neurobiology and Nutrition in Human Disease: Prevention, Treatment and Future Directions". Coral Gables, Florida. 12/92

6. Morphological features in the diagnosis of mitochondrial encephalo-myopathies.

45th Annual Meeting of the American Academy of Neurology. New York, NY. 5/93.

7. The molecular basis of neuromuscular disorders

International symposium in neurosciences. Goiania, Brazil. 11/93

8. Morphological features in the diagnosis of mitochondrial encephalomyopathies.

46th Annual Meeting of the American Academy of Neurology. Washington, DC. 5/94.

9. Mitochondrial DNA defects in Inclusion Body Myositis

Symposium on diagnostic criteria, definitions, pathogenesis and treatment of sporadic and hereditary IBM. Jupiter, Florida, 3/94

10. Cytochrome oxidase deficiency and mtDNA depletion

The VIII International Congress on Neuromuscular Diseases. Kyoto, Japan, 7/94

11. Molecular analysis of the muscle pathology associated with mtDNA deletions in CPEO

Glycolitic and Mitochondrial Defects Symposium, Osaka, Japan, 7/94


12. Recent Advances on the molecular pathogenesis of mitochondrial disorders

International Meeting of the Scandinavian Association of Clinical Chemists. Stockholm, Swedeen. 8/94.


47th Annual Meeting of the American Academy of Neurology. Seattle, WA. 5/95.

14. Mitochondrial oxidative mass: Evolution from a molecular perspective.

Workshop symposium of the International Society for the Study of Fatty Acids and Lipids at the National Institute of Health, Bethesda, MD. 6/95.

15. Mitochondrial disorders: a naturally occurring collection of mutants for the study of

mitochondrial biogenesis. Simposio Areces Enfermedades Del DNA Mitocondrial. Zaragoza, Spain. October 19 - 20, 1995


48th Annual Meeting of the American Academy of Neurology. San Francisco, CA. 3/96.

17. Molecular Basis of Mitochondrial Disorders

13th annual meeting of the Southern Association for Neurology and Neuroradiology. Porto Alegre, Brazil 11/96


49th Annual Meeting of the American Academy of Neurology. Boston, MA. 4/97.

19. Mitochondrial disorders

Satellite meeting to the International Congress in Neuromuscular Disorders Melbourne, Australia, 1998

20. Evolutionary constraints in nuclear-mitochondrial interactions

EUROMIT IV. Queens College, Cambridge, UK September/1999

21. Complex I deficiencies: Cellular consequences.

Annual Clinical Genetics Meeting, Palm Springs, CA March/2000.

22. Nuclear-Mitochondrial interactions in FREAK cells.

Dept. of Physiology. Baylor College of Medicine, Houston, September, 2000.

23. Clinical and Pathophysiological Analogy of Genetic mtDNA depletion to the Nucleoside

analogue-induced mtDNA depletion.

Workshop in HIV Neuropathy. Washington DC, September 2000.

24. Nuclear-Mitochondrial interactions in xenomitochondrial cybrids

Children’s National Medical Center Research Institute, Washington DC, February 2001

25. Mitochondrial DNA replication

American Society of Neurochemistry Annual Meeting. Colloquium: Mitochondria-Beyond Bioenergetics. Palm Beach, FL June 2002

26. Animal Models of Electron Transport Defects

EUROMIT VI. Nijmegen, The Netherlands. July/2004

27. OXPHOS Complexes homeostasis

Gordon Research Conference “Molecular and Cellular Bioenergetics” University of New England. June/2005

28. Mouse models of OXPHOS deficiency in the CNS

Banbury Research Conference Cold Spring Harbor. October/2005

29. Genetic Therapies for Mitochondrial Myopathies

International Society for Ophthalmology São Paulo, Brazil, February/2006

30. Mouse models of cytochrome oxidase deficiencies

First International Colloquium on Leigh’s syndrome French Canadian


Montreal. May/2006

31. Modulating mtDNA heteroplasmy with restriction endonucleases

Mastering the mitochondrial maize (UMDF annual meeting) Atlanta. June/2006

32. Gene Therapy for Mitochondrial Disorders

International Conference on Mitochondrial Biomedicine & Chinese Mit’ 2006: Mitochondria and Health & Asian Society for Mitochondriasel Rearch and Medicine Workshop. Wenzhou, Zhejiang Province, China , November/2006

33. Animal Models and Therapeutic Approaches to Mitochondrial Diseases.

Scripps Florida. November/2006.

34. New Advances in Mitochondrial Diseases.

Neurology Update Course, Miami Beach. January/2007

35. Cellular and Molecular Mechanisms of Energy Metabolism in the Brain: Relevance to

Brain Disorders.

Evelyn F. McKnight Brain Research Foundation Symposium. University of Miami Miller School of Medicine. April/2007

36. Interdependence of Oxidative Phosphorylation Components for Assembly and Stability.

10th IUBMB and XXXVI Annual Meeting of SBBq. Salvador, Brazil. May/2007

37. OXPHOS Biogenesis.

FASEB symposium on Mitochondrial Biology, Tucson, AZ. August/2007

38. Cytochrome oxidase deficiencies and Alzheimers Disease

ScandMit symposium Tampere, Finland. October/2007

39. Increased mitochondrial biogenesis as treatment to mitochondrial myopathies

Howard Hughes Medical Institute Janelia Farm Conference. March/2008

40. Using Mouse models to Develop Novel Therapies for Mitochondrial Diseases

Florida Atlantic University Neuroscience series. Boca Raton, FL. September/2008

41. Mitochondrial involvement in neurodegenerative diseases

Udall NIH Centers annual Meeting, Chicago. IL. October/2008

42. Novel Therapeutic Approaches to Mitochondrial Diseases

Max Planck Institute, Neuroscience Series. Göttingen, Germany. November/2008

43. Mitochondrial dysfunction and oxidative damage: Is the dogma crumbling?

Nature Conferences (EC), Nature Genetics/Nature Neurosciences/Fondation IPSEN. Mitochondrial Dysfunction in Neurological Disease. Durham, NC. December/2008

44. Alzheimer’s disease and mitochondrial dysfunction.

Aging, Neurodegeneration ansd Mitochondria. Juselius Foundation, Helsinki, Finland. March 2009.

45. The role of MTERF2 in mitochondrial transcription.

United Mitochondrial Disease Foundation Annual Meeting. Washington DC. June 2009

46. Mitochondrial Biogenesis in degenerative diseases.

Grand Rounds, Dept. of Pathology, Yale University. New Haven, CT. October 2009

47. PGC-1 and aging.

“Current Diagnostics and Therapeutic Issues on neuromuscular Disorders”, Athens, Greece. November 2009

48. Mitochondrial Biogenesis in mitochondrial diseases.

Mitochondial Research Affinity Group, CHOP, University of Pennsylvania.. Phyladelphia, PA. December 2009.

49. Mitochondrial diseases.

Curriculum Vitae Carlos T. Moraes 31 Department of Medicine Lecture. Northwestern Medical School, department of Medicine,

Chicago. May 2010.

50. Mitochondrial biogenesis in aging.

Invited Lecture at the Max Planck Institute on Aging Research, Cologne, Germany. April 2010.

51. Mitochondrial Biogenesis in mitochondrial diseases.

Invited speaker at the Experimental Biology symposium on Mitochondria and Aging, Anaheim, CA, April 2010

52. Mitochondrial Biogenesis in aging.

United Mitochondrial Disease Foundation Annual Meeting. Scottsdale AZ. June 2010

53. mtDNA variations in the mutator mouse

Gordon Research Conference “Mitochondrial and Chloroplasts” Il Ciocco, Tuscany, Italy. July/2010

54. Mitochondria-targeted restriction endonucleases as tools to understand and treat

mitochondrial diseases.

New Frontiers in Bioenergetics symposium. University Nijmegen Medical Centre, Netherlands. November 2010.

55. Biological advances in aging research.

Global Business Forum, University of Miami, Coral Gables. January 2011

56. Mitochondrial Biogenesis and Aging: The more the merrier.

Discovery Grand Rounds, University of Miami, March 2011

57. Mitochondrial DNA Defects in Development.

ASBMB-EB 2011, Washington, DC. April 2011

58. Mitochondrial Biogenesis and Sarcopenia.

ASP-EB 2011, Washington, DC. April 2011

59. Mitochondrial Aging

Florida Atlantic University Neuroscience series. Boca Raton, FL. April/2011

60. Mitochondrial Biogenesis in Aging and Disease.

University of Central Florida Neuroscience series. Orlando, FL. May/2011

61. Mitochondrial Biogenesis and Aging: The more the merrier.

Howard Hughes Medical Institute Janelia Farm Conference. May/2011

62. Mitochondrial Biogenesis as Therapy to Mitochondrial Disorders.

EuroMit 2011, Zaragoza, Spain. June 2011

63. Mitochondria and Aging.

Gordon Conference on Bioenergetics. Proctor College, NH. June 2011

64. Mitochondria Dysfunction and Diseases.

International Symposium of the German Society for Biochemistry and Molecular Biology (GBM). Frankfurt am Main, Germany. September 2011

65. Novel Therapeutic Approaches to Mitochondrial Diseases.

Treatment of mitochondrial disease - now and in the future. Founding meeting for the International Coordinating Committee for Mitochondrial Diseases (ICCMD). Bethesda, MD. October 2011.

66. Workshop- Barriers and Opportunities in Mitochondrial Diseases.

Chair and speaker on “Model Systems of Mitochondrial Diseases” Sponsored by the NIH and the UMDF. Bethesda, MD. March 2012

67. Mitochondrial Aging.

XLI Annual Meeting of the Brazilian Biochemistry and Molecular Biology Society (SBBq), Foz do Iguaçu, Paraná, Brazil, May 2012.


68. Therapeutic Approaches to Mitochondrial Diseases.

Invited Seminar. Department of Pathology, University of Pittsburgh, Pittsburgh, PA. January 2013.

69. Treating mitochondrial diseases

MDA-Sponsored Therapeutic Approaches to Muscle Diseases Bethesda, April 2013.

70. Novel Genetic Approaches to Treat Mitochondrial Diseases.

NHLB-Sponsored conference on mitochondrial biology. Bethesda, May 2013.

71. Mouse Models of Mitochondrial Diseases.

International Symposium: "Mitochondrial diseases. Madrid, May 2013

72. Mitochondrial DNA Heteroplasmy Manipulation with mitoTALEN.

United Mitochondrial Disease Foundation Annual Meeting. Orange County CA. June 2013

73. p53 activation after mitochondrial DNA double strand breaks.

FASEB meeting in Mitochondrial Biogenesis. Big Sky, Montana MT. June 2013

74. Modifying mitochondrial genomes

Max Planck Institute for Biophysics. Bad Neuheim, Germany. October 2013

75. Mitochondrial DNA damage in muscle aging

EMBO workshop on Muscle Wasting. Ancona, Switzerland. September 2013.

76. Mitochondrial DNA gene therapy.

Mitochondrial Disease: Translating biology into new treatments. Wellcome Trust Scientific Conferences. Cambridge, UK, October 2013.

77. mtDNA damage in aging.

Department of Genetics Seminar Series. McGill University, Montreal November 5th, 2013

78. Mitochondrial DNA double strand breaks and aging.

Mitochondrial Driven Mechanisms of Redox Signaling in Disease November 20 - 24, 2013, San Antonio, TX (SFRBM 2013).

79. Genetic Therapy for mtDNA Disorders.

Mitochondria, Energetics and Metabolism meeting. 27th-30th January 2014. Mahabaleshwar, India.

80. Manipulating Mitochondrial DNA Heteroplasmy in vivo to Treat Mitochondrial

Diseases.

Center for Molecular Medicine and Genetics Seminar Series. Wayne State University, Detroit. March 20th, 2014.

81. Rethinking the Cellular Targets of Mitochondrial Dysfunction Associated with Aging

American Aging Association 43rd Annual Meeting. San Antonio, TX May 30th, 2014

82. Engineered Mitochondrial Nucleases for the Treatment of Mitochondrial DNA

Disorders.

United Mitochondrial Disease Foundation Annual Meeting, Pittsburgh, PA. June 5th, 2014

83. Mitochondrial TAL effector nucleases as therapy for mitochondrial diseases.

EuroMit 2014, Tampere, Finland. June 2014

84. Course in Mitochondrial Medicine, Bertinoro di Romagna, Italy. December 3, 2014.

85. Genetic Treatment for Mitochondrial Diseases Caused by Heteroplasmic mtDNA

Mutations.

Symposium “Links in Metabolism and Mitochondria in Aging Diseases and Their Therapeutic Potentials”. Gainsville, FL. December 2014.

86. Mitochondrial DNA damage in aging. Workshop on "Mitochondria and Metabolic Signaling in Ataxia-Telangiectasia". Tarrytown, NY. December 2014.


87. Recent Advances in the Genetics of Mitochondrial Disorders: From Diagnosis to

Therapy. Neurology Update and Stroke Intensive 2015. Miami, FL. January 2015.

88. Selective Targeting of MtDNA Sequences and Applications to Therapy. 59th Annual Biophysical Society Meeting. Baltimore, MD. February 2015.

89. Targeting Disease-Causing Defects of the Mitochondrial Genome with Engineered

Mitochondrial Nucleases. Targeting Mitochondrial Dysfunction & Toxicity Conference (Healthtech.com)., Boston MA. March 2015.

90. Potential alternative to preventing transmission of mtDNA diseases: heteroplasmy shift

therapy. Institute of Medicine Public Workshop of the Committee on Ethical and Social Policy Considerations of Novel Techniques for Prevention of Maternal Transmission of Mitochondrial DNA Diseases. Washington, DC. April 2015.

91. MitoTALENS: A general approach to reduce mutant mtDNA loads and restore

oxidative phosphorylation function in mitochondrial diseases. FASEB Meetings. Palm Beach, FL. May 2015.

92. Therapeutic Approaches to Mitochondrial Defects in Muscle. Gordon Conference in Myogenesis. Barga, Italy. June 2015.

93. The use of mitochondrial-targeted nucleases to alter mtDNA heteroplasmy. MitoCross Symposium 2015, Strasbourg, France. September 2015.

94. Manipulating mitochondrial DNA heteroplasmy with designer nucleases. Baylor College of Medicine, Dept of Genetics Seminar Series. Baylor, TX. January 2016.

95. Pharmacological and genetic approaches to treat mitochondrial diseases. Workshop :Implication of metabolic and epigenetic modifications for neuroprotection: relevance to translational research. Fundação Santa Casa. São Paulo, Brazil. March 2016.

96. Messing with mtDNA in vivo using mitochondrial targeted nucleases. Molecular biology of mitochondrial gene expression. Bro, Sweden. May 2016.

97. Modulating mtDNA Heteroplasmy with Designer Nucleases. United Mitochondrial Disease Foundation Annual Meeting, Seattle, WA. June, 2016

98. Mitochondrial DNA Double-Strand Breaks: Consequences and Uses. University of Nebraska-Lincoln Biochemistry Department and Redox Biology Center. September 2016.

99. Manipulating the Mitochondrial Genome with Designer Nucleases. Genome Editing for Gene and Cell Therapy, a Herrenhausen Symposium. Hanover, Germany. November, 2016.

100. Biochemical and genetic basis of mitochondrial encephalopathies. From Pediatric Encephalopathy to Alzheimer's: Linking Mitochondria to Neurological Disease. Neurobiology of Disease Workshop. Society for Neuroscience Annual Meeting. San Diego, CA. November, 2016.

101. Mitochondrial DNA double strand breaks cause a premature aging-like phenotype in

mice. Stem Cell Institute Seminar Series. University of Minnesota. Minneapolis, MN. November, 2016.

102. Manipulating mtDNA with TALEN-based nucleases. Annual UK MRC Centre Translational Research Conference. Institute of Child Health, London. March 2017.

103. The role of methionine formylation in OXPHOS synthesis and assembly. MRC Center for Mitochondrial Research. Cambridge, UK. March 2017.

104. Targeted for Destruction: Gene Therapy for mtDNA diseases. Wellcome Trust Centre for Mitochondrial Research, Newcastle University, UK. March 2017.

105. Modulating mtDNA heteroplasmy in vivo with gene editing enzymes. EUROMIT 2017. Cologne, Germany. June 2017.

106. Advances on the Use of Designer Nucleases to Reduce Mutant mtDNA Levels. United Mitochondrial Disease Foundation Annual Meeting, Washington DC. June 2017.


107. Novel Methods of mtDNA Modulation.

American Physiological Society. Special Symposium of Mitochondrial function. San Diego, August 2017.

108. Manipulating mtDNA with mitochondrial-targeted nucleases.

Cold Spring Harbor Asia- Mitochondria. Suzhou, China, October 2017.

109. Development of Genetic Treatments to Mitochondrial Diseases

Workshop in Genetics-Universidade Estadual de São Paulo-Botucatu. April 2018.

110. Consequences of mtDNA double-strand Breaks in vivo. EMBO Workshop on mitochondrial gene expression. Sånga Säby, Sweden. June 2018.

111. Development of Genetic Therapy for mtDNA Diseases. Lecture at the Dept. of Environmental Sciences, Florida International University, Miami. August 2018.

112. MtDNA breaks and deletions: Clinical Implications. Heartland Center for Mitochondrial Medicine symposium. Kansas City, September 2018.

113. Development of Genetic Therapy for mtDNA Diseases. World Muscle Society Congress, Mendoza, Argentina. October 2018.

114. Consequences and therapeutic uses of mtDNA double-strand breaks in mammalian

cells. Cold Spring Harbor Laboratory Seminar. THE EVOLVING CONCEPT OF

MITOCHONDRIA: FROM SYMBIOTIC ORIGINS TO THERAPEUTIC OPPORTUNITIES. Cold Spring Harbor, NY. October 2018.

115. International Scientific Advisory Board Symposyum. Mitochondrial DNA editing enzymes. Newcastle, UK. November 2018.

TEACHING

27. Teaching awards received: None 28. Teaching Specialization (classes taught): Mitochondria function and dysfunction in neurological diseases (NEU631). (co-organizer)

Fall 2014 Mitochondrial biogenesis and genetics (PIBS601). Annually, starting in 1995-present (one lecture/ year) PIBS602 (two lectures/year) 2010-present Mitochondrial genetics (Genetics) 2001-2002

Clinical/biochemical correlations (Biochemistry and Molecular Biology, 1995) Research Opportunities in Human Diseases (Molecular Pharmacology, 1995) Molecular Pathology of Mitochondrial Disorders (Neurological Update/ School of continuing

education UM) Annually, starting in 1994 Morphological approaches to mitochondrial disorders (Mitochondrial disorders half-day

course/ American Academy of Neurology) 1993-1998 29. Thesis advising:

Celia Harumi Tengan, M.D., Ph.D. Ph.D. Program in Neuroscience through a collaboration between the Escola Paulista de

Medicina (São Paulo, Brazil), and the University of Miami (1994-1996). Ilias Kirkinezos Graduate Program in Molecular, Cell and Dev. Biol, University of Miami (1997-2003) Sarika Srivastava


Graduate Program in Molecular, Cell and Dev. Biol, University of Miami (1998-2005) Corina van Waveren Graduate Program in Molecular, Cell and Dev. Biol, University of Miami (2002-2005) Corneliu Luca Graduate Program in Molecular, Cell and Dev. Biol, University of Miami (2003-2008) Hirokazu Fukui Graduate Program in Neuroscience, University of Miami (2004-2008) Adriana Rebelo

Graduate Program in Molecular, Cell and Dev. Biol, University of Miami (2005-2009) Alicia Pickrell

Graduate Program in Neuroscience, University of Miami (2007-2012) Lloye Dillon

Graduate Program in Molecular, Cell and Dev. Biol, University of Miami (2007-2012) Xiao Wang

Graduate Program in Cancer Biology, University of Miami (2008-2012) Tania Arguello

Graduate Program in Human Genetics, University of Miami (2012-2017) Nadee Nissanka

Graduate Program in Neuroscience, University of Miami (2013-2018) Ugne Zekonyte

Graduate Program in Human Genetics, University of Miami (2017-) Christian Gonzalez

MD/PhD Program, University of Miami (2018-) Post-doctoral fellows supervision Ashok Verma MD (postdoctoral). University of Miami 1995-1998. David Atencio Ph.D. (post-doctoral). University of Miami 1995-1999. Antoni Barrientos Ph.D. (post-doctoral) University of Miami 1997-1999. Runu Dey, Ph.D. (post-doctoral) University of Miami 1997-2000. Francisca Diaz, Ph.D. (post-doctoral) University of Miami 1999-2003

Markus Woischnick, Ph.D. (post-doctoral) University of Miami 2000-2002 M. Pilar Bayona, Ph.D.. (post-doctoral) University of Miami 2001-2005 Sandra Bacman, Ph.D.. (post-doctoral) University of Miami 2001-2005 Uma Vampati, Ph.D. (post-doctoral) University of Miami 2002-2009 Sion Williams, Ph.D. (post-doctoral) University of Miami 2005-2009 Tina Wenz, Ph.D. (post-doctoral) University of Miami 2005-2009 Alessandra Torraco, Ph.D. (post-doctoral) University of Miami 2006-2008 Sarika Srivastava, Ph.D. (post-doctoral) University of Miami 2006-2007 Milena Pinto, Ph.D. (post-doctoral) University of Miami 2010-2017 Susana Peralta, Ph.D. (post-doctoral) University of Miami 2010-2017 Claudia Pereira, Ph.D. (post-doctoral) University of Miami 2013-present Masami Hashimoto, Ph.D. (post-doctoral) University of Miami 2012-2015 Tania Arguello, Ph.D. (post-doctoral) University of Miami 2017-present

SERVICE

Curriculum Vitae Carlos T. Moraes 36 30. University Committee and Administration: Committee member "Research Liaison" with the Dean for Research 1997-1998 Committee member, Executive Promotions, University of Miami School of Medicine 1998-

2004 Steering Committee member. Graduate Program in Molecular, Cell and Developmental

Biology. 2000-2008 Steering Committee member. Graduate Program Human Genetics. 2008-2011 Steering Committee member. Graduate Program Neurosciences. 2011-present

Chair of the Faculty Research Advisory Committee (FRAC) to the Senior Associate Dean for Research 2004-2006 Committee member “UMMSM Imaging Core” (2004-2009) Committee member “UMMSM Mouse Genetics Core” (2004-present) Committee member “Office for Postdoctoral Affairs” (2006-2016) Committee member “MD/Ph.D steering committee” (2007-2017) Committee member “IBS admissions committee” (Neuroscience Alternate, 2005-present) Steering Committee member “Research Pillar, Dept. of Neurology” Search committee co-chair “Walter Bradley Chair in ALS Research” (Dept. of Neurology, 2009). Review Group Interdisciplinary Research Development Initiative (2008) Promotions and Tenure Committee (UMMSM- 2015-Present) Committee member “Neuroscience Program steering committee” (2016-present) Committee member “U-LINK Action Team meeting” (2017-2018) Committee member “Core Advisory committee” (2017-present) Ph.D. Thesis Committees (not as Mentor; past and present. Underlined-served as Chair)- George Brittan (Neuro/UMSM), Denise Abulafia (MCDB/UMSM), Enrique Cepero (MI/UMSM), Janet Talbot (Phys/UMSM), Yuhong Zuo (BMB/UMSM), Patrick Singleton (MCDB/UMSM), Craig Roberts (Neuro/UMSM), Radia Forteza (MCDB/UMSM), Jonathan Maher (MCDB/UMSM), Shanon Mendez (Neuro/UMSM), Carlos Arana (MCP/UMMSM), Amy Hower (Neuro/UMMSM), Nyguyen Khamh (Neuro/UMMSM), Neal Satterly (MCP/UMMSM), Darrell Horn (BMB/UMMSM), Iliana Soto (BMB/UMMSM), Christie Taylor (BMB/UMMSM), Mathew Brentall (CAB/UMMSM), Stephanie Glass (Neuro/UMMSM), David Barakat (MCDB/UMMSM), Donald S. McCorquodale (Neuro/UMMSM), Kahlilia Morris (Neuro/UMMSM), Haibin Xi (CAB/UMMSM), Rui Zhan (MCDB/UMMSM), Margaret Benny (MCDB/UMMSM), Charles Cohan (Neuro/UMMSM), Katia K. Oliveira (Master’s thesis committee, Universidade Federal de São Paulo, Brazil), Alexander Keymerman (Neuro/UMMSM), Keryn Hughes (BMB/UMMSM), Han Gao (Neuro/UMMSM), Alleene Strickland (Neuro/UMMSM), Dawn Owens (MCDB/UMMSM), Kevin Koronowski (Neuro/UMMSM), Ya-Ting Tu (BMB/UMMSM), Dasmanthie De Silva (BMB/UMMSM), Austin Choi (Neuro/UMMSM), Andrea Ruetenik (Neuro/UMMSM), Jonathan Weitz (MCDB/UMMSM), Hyun-Jung Kim (BMB/UMMSM), Hui Zhong (BMB/UMMSM), Nathalie Khoury (Neuro/UMMSM), Melanie Plastini (Neuro/UMMSM), Jing Xu (Neuro/UMMSM). Henna Tyynismaa, Opponent on Ph.D. defense (University of Helsinki-10/07) Amy Vincent, External Examiner on PhD defense (University of Newcastle-3/17)

31. Community Activities:

Curriculum Vitae Carlos T. Moraes 37 Mentor. American Heart Association Summer High School Research Program (96-97) Mentor. Dade County High School Advanced Research Internship Program (96-97)

Documents

PERSONAL...31. What regulates mitochondrial DNA copy number in animal cells? Moraes, C. T. Trends Genet 17, 199-205. (2001) 32. Studying Mitochondria of Animal Cells [Issue Editor