Robert K. Naviaux, MD, PhD
UCSD School of Medicine
The Mitochondrial and Metabolic Disease Center
March 1, 2014
Publications From the Naviaux Lab at the MMDC
1. Naviaux RK, Nasirian F, Barshop BA, Nyhan WL, Haas RH (1996). The role of reverse
transcription in the replication of mitochondrial DNA (Abstract). Annual meeting of the
Society for Inherited Metabolic Disorders.
2. Naviaux RK, Barshop BA, Nyhan WL, Haas RH. (1996). Reverse transcription and the
bipotential replication of mitochondrial DNA (Abstract). Annals of Neurology 40:293.
3. Naviaux RK Nasirian, F. Longenecker, A. M. Shelton, D. Barshop, B. A. Nyhan, W. L.
Haas, R. H. DNA polymerase gamma deficiency in mitochondrial disease (Abstract). Annals
of Neurology 40:39, 1996.
4. Naviaux RK, Barshop BA, Nyhan W L, Haas R H (1996). Pararetrovirus-like replication of
mitochondrial DNA (Abstract). Cold Spring Harbor Retrovirus Meeting, May 21-26.
5. Naviaux RK. The mitochondrial DNA depletion syndromes: mitochondrial DNA
polymerase deficiency, in Atlas of Metabolic Diseases, Nyhan WL (ed), Chapman & Hall,
London, pp. 314-320, 1998.
6. Naviaux RK, Barshop BA, Poulton J, Nyhan WL, Haas RH. Mitochondrial DNA
polymerase  deficiency and mitochondrial DNA depletion in a child with Alpers Syndrome.
Annals of Neurology 1999; 45:54-58.
7. Naviaux RK, Markusic D, Barshop BA, Nyhan WL, Haas RH. Sensitive assay for
mitochondrial DNA polymerase . Clinical Chemistry 45:1725-1733, 1999.
8. Barshop BA, Nyhan WL, Naviaux RK, McGowan KA, Friedlander M, and Haas RH.
Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria. Molecular Genetics and
Metabolism 69: 64-68, 2000.
9. Naviaux RK. Adult presentations of mitochondrial disease. United Mitochondrial Disease
Foundation Newsletter, 5(March):1-14, 2000.
10. Naviaux RK, McGowan KA. 2000. Organismal effects of mitochondrial dysfunction.
Human Reproduction 15(Suppl 2):44-56.
11. Naviaux RK. 2000. Mitochondrial DNA Disorders. European J Pediatrics 159:S219S226.
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12. Graf WD, Marin-Garcia J, Gao HG, Pizzo S, Naviaux RK, Markusic D, Barshop BA,
Courchesne E, Haas RH. Autism associated with the mtDNA G8363A tRNA lysine
mutation. J Child Neurol 2000;15:357-361.
13. Naviaux RK. Options and challenges in the treatment of mitochondrial disease. Genetics and
Medicine 2:56, 2000.
14. Naviaux RK. The State of Mitochondrial Medicine 2000—Report to the United
Mitochondrial Disease Foundation. Sept 20, 2000.
15. Naviaux RK, Nyhan WL. Galactosemia, in Cecil’s Textbook of Medicine, 21st edition, 2000,
pp1084-1086.
16. Spruijt L, Naviaux RK, McGowan KA, Nyhan WL, Sheean G, Haas RH, Barshop BA.
Nerve conduction changes in patients with mitochondrial diseases treated with
dichloroacetate. Muscle and Nerve 24:916-924, 2001.
17. Scaglia F, Sutton VR, Vogel H, Naviaux RK, Vladutiu G, Bodamer AF, Shapira S.
Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3methylglutaconic aciduria. J Child Neurol 16(2):136-138, 2001.
18. Bodman M, Smith D, Nyhan WL, Naviaux RK. Medium-chain acyl coenzyme A
dehydrogenase deficiency: occurrence in an infant and his father. Archives of Neurology
58(5):811-814, 2001.
19. Naviaux RK. 2001. The coding problem—why no one can die of mitochondrial disease in
America. Mitochondrion 1:99 (A34), 2001.
20. Naviaux RK. 2001. Is animal cell mitochondrial DNA the relic of a Precambrian phage? A
Protovirus hypothesis. Mitochondrion 1:108 (A58), 2001.
21. Naviaux RK, McGowan KA, Barshop BA, Nyhan WL, Haas RH. Correction of renal tubular
acidosis in mitochondrial disease patients treated with triacetyluridine (PN401). Society for
Inherited Metabolic Disorders, Annual Meeting, March 12-15, 1999.
22. Naviaux RK, Tarek Hassanein, Asim Guha Roy, Cynthia Behling, Marc R. Garfinkel,
Andrew Precht, Vijay Pinto, Kenneth Martinez, Rhonwyn L. Curtis. Late Onset, Subacute,
Fulminant Hepatic Failure, Renal Failure, and Coma Resulting from Valproic Acid
Treatment and Intercurrent Infection in an Adult with Mitochondrial Disease. Mitochondrion
1:88 (A4), 2001.
23. Le T, Kwon G-C, Barshop BA, Naviaux RK A sensitive assay of dihydroorotate CoQ
oxidoreductase using mass spectrometry Mitochondrion 1:92 (A14), 2001
24. Naviaux RK. De Novo Pyrimidine Biosynthesis is Coupled to Mitochondrial Oxidative
Phosphorylation via the Inner Mitochondrial Membrane Protein Dihydroorotate CoQ
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Oxidoreductase (DHO-QO). DARPA/NASA Photobiology Workshop, 2nd International
NOA Conference 2001. Center for Advanced Space Sciences (CASS), Houston, TX, 5/316/1/01.
25. Naviaux RK. Assay of mitochondrial DNA polymerase  from human tissues, in Copeland
W (ed) Methods in Molecular Biology, vol 197, Mitochondrial DNA: Methods and
Protocols, Humana Press Inc., Totowa, NJ, pp. 259-271, 2002.
26. Naviaux RK, Singh KK. Ooplasmic transfer and the mitochondrial germ line. Nature
413:347, 2001.
27. Edmonds J, Kirse DJ, Kearns D. Deutsch R, Spruijt L, Naviaux RK. The otolaryngological
manifestations of mitochondrial disease and the risk of neurodegeneration with infection.
Arch. Otolaryngol Head Neck Surg 128:355-362, 2002.
28. Naviaux RK. Mitochondrial Metabolism and the Injured Cell Response to Near-Infrared
Light. Joint Conference, Defense Advanced Research Projects Agency (DARPA) and 2nd
Congress of the North American Association for Laser Therapy (NAALT), Atlanta, GA,
March 5-8, 2002.
29. Nyhan W, Khanna A, Barshop B, Naviaux RK, Precht A, Lavine J, Hart M, Hainline B,
Wappner R, Nichols S, Haas R. Pyruvate carboxylase deficiency-insights from liver
transplantation. Mol Genet Metab. 77(1-2):143-146, 2002.
30. Shults CW, Oakes D, Kieburtz K, Beal MF, Haas RH, Plumb S, Juncos JL, Nutt J, Shoulson
I, Carter J, Kompoliti K, Perlmutter JS, Reich S, Stern M, Watts RL, Kurlan R, Molho E,
Harrison M, Lew M. Effects of coenzyme Q10 in early Parkinson disease: evidence of
slowing of the functional decline. Arch Neurol 59(10):1541-1550, 2002.
31. Phillips PS, Haas RH, Bannykh S, Hathaway S, Gray NL, Kimura BJ, Vladutiu GD,
England JD. Statin-associated myopathy with normal creatine kinase levels. Ann Intern
Med. 137(7):581-585, 2002.
32. Petit C, Mathez D, Barthelemy C, Leste-Lasserre T, Naviaux RK, Sonigo P, Leibowitch
J.Quantitation of blood lymphocyte mitochondrial DNA for the monitoring of antiretroviral
drug-induced mitochondrial DNA depletion. J Acquir Immune Defic Syndr 33(4):461-469,
2003.
33. Naviaux RK. The Spectrum of Mitochondrial Disease, in Mitochondrial and Metabolic
Disorders: A Primary Care Physician’s Guide, 2nd ed. 2003.
34. Naviaux RK. Mitochondrial mechanisms of light-stimulated tissue regeneration.
ECI/NAALT Conference, Kona, Hawaii, August 22-27, 2004.
35. McGowan KA, Nyhan WL, Barshop BA, Naviaux RK. The role of methionine in
ethylmalonic encephalopathy with petechiae. Arch Neurol. 2004;61:570-574
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36. Naviaux RK, Nguyen KV. POLG Mutations Associated with Alpers' Syndrome and
Mitochondrial DNA Depletion. Ann Neurol. 2004;55:706-712
37. Naviaux RK, ed. Mitochondrial Medicine--Developing the Scientific Foundations for the
Medical Management of Mitochondrial Disease, Mitochondrion 2004; Vol. 4, pp. 349-824,
Elsevier, Oxford, UK
38. Naviaux RK. Developing a systematic approach to the diagnosis and classification of
mitochondrial disease. Mitochondrion. 2004;4:351-361
39. Phillips PS, Phillips CT, Sullivan MJ, Naviaux RK, Haas RH. Statin myotoxicity is
associated with changes in the cardiopulmonary function. Atherosclerosis. 2004;177:183-188
40. Barshop BA, Naviaux RK, McGowan KA et al. Chronic treatment of mitochondrial disease
patients with dichloroacetate. Mol Genet Metab. 2004;83:138-149
41. Gourley PL, Naviaux RK. Optical phenotyping of human mitochondria in a biocavity laser.
IEEE J. Selected Topics Quantum Electronics. 2005;11:818-826
42. Naviaux RK, Nguyen KV. POLG mutations associated with Alpers syndrome and
mitochondrial DNA depletion. Ann Neurol. 2005;58:491
43. Petit C, Pietri-Rouxel F, Lesne A, Naviaux RK. Oxygen consumption by cultured human
cells is impaired by a nucleoside analogue cocktail that inhibits mitochondrial DNA
synthesis. Mitochondrion. 2005;5:154-161
44. Chan SS, Longley MJ, Naviaux RK, Copeland WC. Monoallelic POLG expression resulting
from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome.
DNA Repair (Amst). 2005;4:1381-1389
45. Gourley PL, Hendricks JK, McDonald AE, Naviaux RK. Mitochondrial correlation
microscopy and nanolaser spectroscopy - new tools for biophotonic detection of cancer in
single cells. Technol Cancer Res Treat. 2005;4:585-592
46. Nguyen KV, Ostergaard E, Ravn SH Balsley T, Danielsen ER, Vardag A, McKiernan PJ,
Gray G, Naviaux RK. POLG mutations in Alpers syndrome. Neurology. 2005;65:1493-1495
47. Naviaux RK, Good B, McPherson JD et al. Sand DNA - a genetic library of life at the
water's edge. Marine Ecology-Progress Series. 2005;301:9-22
48. Gourley PL, Hendricks JK, McDonald AE, Naviaux RK. Ultrafast Nanolaser Flow Device
for Detecting Cancer in Single Cells. J Biomedical Microdevices. 2005;7(4):331-339
49. Nguyen KV, Sharief FS, Chan SSL, Copeland WC, Naviaux RK. Molecular diagnosis of
Alpers syndrome. J Hepatology. 2006;45(1):108-116.
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50. Gourley PF, Hendricks JK, McDonald AE, Copeland RG, Yaffe MP, Naviaux RK.
Nanolaser spectroscopy: optical phenotyping of genetic variations and metabolic responses in
Saccharomyces cerevisiae. Proceedings of the International Society for Optical Engineering.
2006
51. Jiang Y, Hall TA, Hofstadler SA, Naviaux RK. Mitochondrial DNA mutation detection by
electrospray mass spectrometry. Clin Chem. 53:195-203, 2007.
52. Verma M, Naviaux RK, Tanaka M, Kumar D, Franceschi D, and Singh KK. Mitochondrial
DNA and Cancer Epidemiology. Cancer Res 67:437-439, 2007.
53. Ashley N, Adams S, Slama A, Zeviani M, Suomalainen A, Andreu AL, Naviaux RK,
Poulton J. Defects in Maintenance of Mitochondrial DNA are Associated with
Intramitochondrial Nucleotide Imbalances. Human Molecular Genetics 16:1400-1411, 2007
54. Kok Seong Lim, Robert K. Naviaux, Richard H. Haas. Quantitative DNA Mutation
Analysis by DHPLC. Clin Chem 53:1046-1052, 2007
55. Alaynick WA, Kondo RP, Xie W, He W, Dufour CR, Downes M, Jonker JW, Giles W,
Naviaux RK, Giguère V, Evans R. ERRγ Directs and Maintains the Transition to Oxidative
Metabolism in the Post-Natal Heart. Cell Metabolism Cell Metabolism 6:13-24, 2007.
56. Gourley PL, Hendricks JK, McDonald AE, Copeland RG, Yaffe MP, Naviaux RK. Reactive
biomolecular divergence in genetically altered yeast cells and isolated mitochondria as
measured by biocavity laser spectroscopy: A rapid diagnostic method for studying cellular
responses to stress and disease. J Biomed Optics 12:1-14, 2007.
57. Lim KS, Naviaux RK, Haas RH. Pitfalls in the DHPLC analysis of mitochondrial DNA
mutations. J Molec Diag 10(1):102-108, 2007
58. Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darini N, Wong L-J, Cohen BH, Naviaux
RK. The in-depth evaluation of suspected mitochondrial disease: The Mitochondrial
Medicine Society’s Committee on Diagnosis. Molec Gen Metab 94(1):16-37, 2008
59. Gourley PL, Sasaki DY, Naviaux RK. Nanolaser spectroscopy for studying novel
biomaterials. Proceedings of the International Society for Optical Engineering (SPIE).
6859:1-10, 2008
60. Wong L-J, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M,
Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL,
Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC.
Molecular and clinical genetics of mitochondrial disease due to POLG mutations. Hum Mut
2008, Epub ahead of print
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61. Saitoh A, Haas RH, Naviaux RK, Salva NG, Wong JK, Spector SA. Impact of nucleoside
reverse transcriptase inhibitors (NRTIs) on mitochondrial DNA and RNA in human skeletal
muscle cells. Antimicrobial Agents Chemo 52:2825-2830, 2008.
62. Naviaux RK. Mitochondrial control of epigenetics. Cancer Biology and Therapy 7:11911193, 2008
63. Sachadyn P, Zhang X-M, Clark LD, Naviaux RK, Heber-Katz E. Naturally-Occurring
Mitochondrial DNA Heteroplasmy in the MRL Mouse. Mitochondrion. 2008 Dec;8(56):358-66, PMID: 18761428
64. Naviaux RK, Le TP, Bedelbaeva K, Leferovich J, Gourevitch D, Sachadyn P, Zhang X-M,
Clark L, Heber-Katz E. Retained features of embryonic metabolism in the adult MRL
Mouse. Molecular Genetics and Metabolism 2009;96:133-144, PMID: 19131261
65. Chan SS, Naviaux RK, Basinger AA, Casas KA, Copeland WC. De novo mutation in
POLG leads to haplotype insufficiency and Alpers syndrome. Mitochondrion. 2009.
66. Rardin MJ, Wiley SE, Naviaux RK, Murphy AN, Dixon JE. Monitoring phosphorylation of
the pyruvate dehydrogenase complex. Anal Biochem. 2009 Jun 15;389(2):157-164.
67. Lim KS, Naviaux RK, Haas RH. Determination of DNA Mutation Load in Human Tissues
Using Denaturing HPLC-Based Heteroduplex Analysis. Methods Mol Biol. 2009;554:287299.
68. Angly FE, Willner D, Prieto-Davó A, Schmieder R, Vega-Thurber R, Antonopoulos DA,
Barott K, Cottrell MT, Desnues C, Dinsdale EA, Furlan M, Haynes M, Henn MR, Hu Y,
Kirchman DL, McDole T, McPherson JD, Meyer F, Miller RM, Mundt E, Naviaux RK,
Rodriguez-Brito B, Stevens R, Wegley L, Zhang L, Zhu B, Rohwer F. The GAAS
Metagenomic Tool and its Application to the Estimation of Viral and Microbial Average
Genome Size in Four Biomes. PLoS Comput Biol 2009; 5(12):e1000593 (PMID: 20011103)
69. Saneto RP, Lee IC, Koenig MK, Bao X, Weng SW, Naviaux RK, Wong LJ. POLG DNA
testing as an emerging standard of care before instituting valproic acid therapy for pediatric
seizure disorders. Seizure 2010; 19(3):140-146 (PMID: 20138553).
70. Cohen BC, Naviaux RK. The Clinical Diagnosis of POLG Disease and other Mitochondrial
DNA Depletion Disorders. Methods Molec Biol 2010
71. Gayen JR, Zhang K, RamachandraRao SP, Mahata M, Chen Y, Kim HS, Naviaux RK,
Sharma K, Mahata SK, O'Connor DT. Role of reactive oxygen species in hyper-adrenergic
hypertension: Biochemical, physiological, and pharmacological evidence from targeted
ablation of the chromogranin A (Chga) gene. Circulation 3:414-425, 2010.
72. Saneto R, Naviaux RK. Polymerase Gamma Disease Through the Ages. Developmental
Disabilities Research Rev 2010;16:163-174.
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73. Nguyen KV, Naviaux RK, Patra S, Barshop BA, Nyhan WL. Novel mutation in the human
MCCA and MCCB gene causing methylcrontonylglycinuria. Mol Genet Metab 102:218221, 2011 (PMID 21071250)
74. Du A, Naviaux RK, Le T, Xu C, Sommer SS, Haas RH. Fibroblast immunodiagnosis of
cytochrome oxidase (COX) deficiency in mitochondrial disease. Mitochondrion 11(3):4306, 2011.
75. Nguyen KV, Naviaux RK, Paik KK, Nyhan WL. Novel Mutations in the Human HPRT
Gene. Nucleosides, Nucleotides and Nucleic Acids, 30(6):440-445, 2011.
76. Taub PR, Ramirez-Sanchez I, Ciaraldi TP, Perkin G, Murphy A, Naviaux RK, Hogan M,
Maisel AS, Henry RR, Ceballos G, Villarreal F. Alterations in skeletal muscle indicators of
mitochondrial structure and biogenesis in patients with type 2 diabetes and heart failure:
Effects of epicatechin rich cocoa. CTS Clinical and Transl Sci, 2012;5:43-47. PMID:
22376256
77. Frye RE, Naviaux RK. Autistic disorder with complex IV overactivity: A new
mitochondrial syndrome. J Ped Neurol 9:1-8, 2011.
78. Smith M, Flodman PL, Gargus JJ, Simon MT, Verrell K, Haas R, Reiner GE, Naviaux RK,
Osann K, Spence A, Wallace DC. Mitochondrial and ion channel gene alterations in autism.
BBA, 1817(10):1796-802. 2012 PMID: 22538295
79. Naviaux RK. Oxidative shielding or oxidative stress? J Pharmacol Exp Ther, 342(3):608-18,
2012. PMID: 22700427
80. Nguyen KV, Naviaux RK, Paik KK, Nyhan WL. Lesch-Nyhan Syndrome: mRNA
expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT
coding region of the DNA. Mol Genet Metab. 2012 Aug;106(4):498-501. PMID: 22766437
81. Nguyen KV, Naviaux RK, Paik KK, Nakayama T, Nyhan WL. Lesch-Nyhan variant
syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three
affected family members. Nucleosides Nucleotides Nucleic Acids. 2012 Aug;31(8):616-29.
PMID: 22908952
82. Naviaux RK. Mitochondria and Autism Spectrum Disorders, in The Neuroscience of Autism
Spectrum Disorders. Buxbaum J, Hof P (eds). Elsevier, San Diego, 2013.
83. Naviaux RK, Zolkipli Z, Wang L, Nakayama T, Naviaux JC, Schuchbauer MA, Rogac M,
Tang Q, Dugan LL, Powell SB. Antipurinergic Therapy Corrects the Autism-Like Features
in the Poly(IC) Mouse Model. PloS one 8, e57380 (2013).
84. Sharma K, Mathew AV, Gangoiti JA, Wassel CL, Saito R, Ix JH, Karl B, Sharma S, You Y,
Wang L, Diamond-Stanic M, RamachandraRao S, Lindenmeyer MT, Forslblom C, Ideker T,
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Cohen CD, Groop P-H, Barshop BA, Naviaux RK. Urine Metabolomics Reveals a
Signature of Mitochondrial Dysfunction in Diabetic Kidney Disease. JASN, in press 2013.
85. Dugan LL, You Y-H, Ali SS, DeCleves A-E, Okada S, Shekhtman G, Le TP, Wang L, Xu
M, Paik KK, Naviaux RK, Sharma K. Mitochondrial Function and Superoxide Production
is Reduced in the Diabetic Kidney and Restored by AMPK Activation. JCI, in press 2013.
86. Akizu N, Cantagrel V, Schroth J, Cai N, Vaux K, McCloskey D, Naviaux RK, Van Vleet J,
Crawford A, Silhavy JL, Scheliga JS, Toyama K, Morisaki H, Sonmez FM, Celep F, Oraby
A, Zaki M, Al-Baradie R, Faqeih E, Spencer E, Rosti RO, Scot E, Nickerson E, Gabriel S,
Morisaki T, Holmes EW, Gleeson JG. AMPD2 Regulates GTP Synthesis and is Mutated in
Potentially-Treatable Neurodegenerative Brainstem Disorder. Cell in press, 2013.
87. Naviaux RK. Metabolic Features of the Cell Danger Response. Mitochondrion in press,
2013.
88. Golomb BA, Erickson LC, Scott-Van Zeeland AA, Koperski S, Haas RH, Wallace DC,
Naviaux RK, Lincoln AJ, Reiner GH, Hamilton G. Preliminary Report: Assessing
Bioenergetic Compromise in Autism with 31P-MRS. J Child Neurol in press, 2013.
89. Decleves A-E, Zolkipli Z, Satriano J, Wang L, Nakayama T, Rogac M, Le TP, Nortier JL,
Farquhar MG, Naviaux RK, Sharma K. Regulation of lipid accumulation by AMPK in high
fat diet-induced kidney injury. Kidney International in press, 2013.
90. McCloskey D, Gangoiti JA, King ZA, Naviaux RK, Barshop BA, Palsson BO, Feist AM. A
model-driven quantitative metabolomics analysis of aerobic and anaerobic metabolism in E.
coli K-12 MG1655 that is biochemically and thermodynamically consistent. Biotechnology
and Bioengineering in press, 2013.
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