Publications Made Possible with Christini Fund Support

Robert K. Naviaux, MD, PhD                                                                        

UCSD School of Medicine

The Mitochondrial and Metabolic Disease Center

September 26, 2008

1.                       Naviaux RK, Barshop BA, Poulton J, Nyhan WL, Haas RH. Mitochondrial DNA polymerase g deficiency and mitochondrial DNA depletion in a child with Alpers Syndrome. Annals of Neurology 1999; 45:54-58.

2.                        Naviaux RK, Markusic D, Barshop BA, Nyhan WL, Haas RH. Sensitive assay for mitochondrial DNA polymerase g. Clinical Chemistry 45:1725-1733, 1999.

3.                        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.

4.                        Naviaux RK. Adult presentations of mitochondrial disease. United Mitochondrial Disease Foundation Newsletter, 5(March):1-14, 2000.

5.                        Naviaux RK, McGowan KA. 2000. Organismal effects of mitochondrial dysfunction. Human Reproduction 15(Suppl 2):44-56.

6.                        Naviaux RK. 2000. Mitochondrial DNA Disorders. European J Pediatrics 159:S219-S226.

7.                        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.

8.                        Naviaux RK. Options and challenges in the treatment of mitochondrial disease. Genetics and Medicine 2:56, 2000.

9.                        Naviaux RK. The State of Mitochondrial Medicine 2000—Report to the United Mitochondrial Disease Foundation. Sept 20, 2000.

10.                  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.

11.                  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 3-methylglutaconic aciduria. J Child Neurol 16(2):136-138, 2001.

12.                  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.

13.                  Naviaux RK. 2001. The coding problem—why no one can die of mitochondrial disease in America. Mitochondrion 1:99 (A34), 2001.

14.                 Naviaux RK. 2001. Is animal cell mitochondrial DNA the relic of a Precambrian phage? A Protovirus hypothesis. Mitochondrion 1:108 (A58), 2001.

15.                  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.

16.                  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.

17.                  Le T, Kwon G-C, Barshop BA, Naviaux RK. A sensitive assay of dihydroorotate CoQ oxidoreductase using mass spectrometry. Mitochondrion 1:92 (A14), 2001.

18.                  Naviaux RK. De Novo Pyrimidine Biosynthesis is Coupled to Mitochondrial Oxidative Phosphorylation via the Inner Mitochondrial Membrane Protein Dihydroorotate CoQ Oxidoreductase (DHO-QO). DARPA/NASA Photobiology Workshop, 2nd International NOA Conference 2001. Center for Advanced Space Sciences (CASS), Houston, TX, 5/31-6/1/01.

19.                  Naviaux RK. Assay of mitochondrial DNA polymerase g 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.

20.                  Naviaux RK, Singh KK. Ooplasmic transfer and the mitochondrial germ line. Nature 413:347, 2001.

21.                  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.

22.                  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.

23.                  Nyhan W, Khanna A, Barshop B, Naviaux R, 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.

24.                  Shults CW, Oakes D, Kieburtz K, Beal MF, Haas R, 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.

25.                  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.

26.                  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.

27.                 Naviaux RK. The Spectrum of Mitochondrial Disease, in Mitochondrial and Metabolic Disorders: A Primary Care Physician’s Guide, 2nd ed. 2003.

28.                  Naviaux RK. Mitochondrial mechanisms of light-stimulated tissue regeneration. ECI/NAALT Conference, Kona, Hawaii, August 22-27, 2004.

29.                  McGowan KA, Nyhan WL, Barshop BA, Naviaux RK. The role of methionine in ethylmalonic encephalopathy with petechiae. Arch Neurol. 61:570-574, 2004.

30.                  Naviaux RK, Nguyen KV. POLG mutations associated with Alpers’ syndrome and mitochondrial DNA depletion. Ann Neurol. 55:706-712, 2004.

31.                  Naviaux RK, ed. Mitochondrial Medicine—Developing the Scientific Foundations for the Medical Management of Mitochondrial Disease, Mitochondrion. 4:349-824, Elsevier, Oxford, UK, 2004.

32.                  Naviaux RK. Developing a systematic approach to the diagnosis and classification of mitochondrial disease. Mitochondrion. 4:351-361, 2004.

33.                  Phillips PS, Phillips CT, Sullivan MJ, Naviaux RK, Haas RH. Statin myotoxicity is associated with changes in the cardiopulmonary function. Atherosclerosis. 177:183-188, 2004.

34.                  Barshop BA, Naviaux RK, McGowan KA et al. Chronic treatment of mitochondrial disease patients with dichloroacetate. Mol Genet Metab. 83:138-149, 2004.

35.                  Gourley PL, Naviaux RK. Optical phenotyping of human mitochondria in a biocavity laser. IEEE J. Selected Topics Quantum Electronics. 11:818-826, 2005.

36.                  Naviaux RK, Nguyen KV. POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion. Ann Neurol. 58:491, 2005.

37.                  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. 5:154-161, 2005.

38.                  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). 4:1381-1389, 2005.

39.                  Gourley PL, Hendricks JK, McDonald AE, Naviaux RK. Mitochon­ drial correlation microscopy and nanolaser spectroscopy—new tools for biophotonic detection of cancer in single cells. Technol Cancer Res Treat. 4:585-592, 2005.

40.                  Nguyen KV, Ostergaard E, Ravn SH, Balsley T, Danielsen ER, Vardag A, McKiernan PJ, Gray G, Naviaux RK. POLG mutations in Alpers syndrome. Neurology. 65:1493-1495, 2005.

41.                  Naviaux RK, Good B, McPherson JD et al. Sand DNA—a genetic library of life at the water’s edge. Marine Ecology-Progress Series. 301:9-22, 2005.

42.                  Gourley PL, Hendricks JK, McDonald AE, Naviaux RK. Ultrafast nanolaser flow device for detecting cancer in single cells. J Biomedical Microdevices. 7(4):331-339, 2005.

43.                  Nguyen KV, Sharief FS, Chan SSL, Copeland WC, Naviaux RK. Molecular diagnosis of Alpers syndrome. J Hepatology. 45(1):108-116, 2006.

44.                  Gourley PF, Hendricks JK, McDonald AE, Copeland RG, Yaffe MP, Naviaux RK. Biocavity Laser Spectroscopy of Genetically-altered Yeast Cells and Isolated Yeast Mitochondria. Proc. of  SPIE Imaging, Spectroscopy, and Manipulation of Molecules, Organelles and Cells. 2006.

45.                  Jiang Y, Hall TA, Hofstadler SA, Naviaux RK. Mitochondrial DNA mutation detection by electrospray mass spectrometry. Clin Chem. 53:195-203, 2007.

46.                  Verma M, Naviaux RK, Tanaka M, Kumar D, Franceschi D, and Singh KK. Mitochondrial DNA and Cancer Epidemiology. Cancer Res 67:437-439, 2007.

47.                  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.

48.                  Kok Seong Lim, Robert K. Naviaux, Richard H. Haas. Quantitative DNA Mutation Analysis by DHPLC. Clin Chem 53:1046-1052, 2007.

49.                  Alaynick WA, Kondo RP, Xie W, He W, Dufour CR, Downes M, Jonker JW, Giles W, Naviaux RK, Giguère V, Evans R. ERRg Directs and Maintains the Transition to Oxidative Metabolism in the Post-Natal Heart. Cell Metabolism 6:13-24, 2007.

50.                  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 2007,12:1-14, 2007.

51.                  Lim KS, Naviaux RK, Haas RH. Pitfalls in the DHPLC analysis of mitochondrial DNA mutations. J Molec Diag 10(1):102-108, 2007.

52.                  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.

53.                  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.

54.                  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.

55.                  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.

56.                  Naviaux RK. Mitochondrial control of epigenetics. Cancer Biology and Therapy 7:1191-1193, 2008.

57.        Sachadyn P, Zhang X-M, Clark LD, Naviaux RK, Heber-Katz E. Naturally-Occurring Mitochondrial DNA Heteroplasmy in the MRL Mouse. Mitochondrion 2008, Epub ahead of print.