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    Robert Naviaux

    TitleProfessor In Residence
    SchoolUniversity of California, San Diego
    DepartmentMedicine
    Address214 Dickinson St., Bldg CTF, Rm C102, MC#8467
    CA San Diego 92103
    Phone619-543-2904
    vCardDownload vCard

      Collapse Biography 
      Collapse Awards and Honors
      Hailey’s Wish Foundation2008Hailey’s Hero Award, For Outstanding Research and Clinical Care of children with mitochondrial disea
      Thomson ESI2007Science Citation Index “Fast Moving Front Article”
      United Mitochondrial Disease Foundation Mitochondrial Medicine2007Best Abstract Award
      2002Honored in a non-fiction book entitled, Anna’s Friends—Lessons Learned from a Short and Beautiful Li

      Collapse Overview 
      Collapse Overview
      Research in my lab has focused on the role of mitochondria and metabolism in monogenic and complex disorders in children and adults. These disorders range from orphan diseases like Alpers and Leigh syndromes, to common diseases like autism, chronic fatigue syndrome (CFS), fibromyalgia, post-traumatic stress disorder (PTSD), depression, traumatic brain injury (TBI), chronic traumatic encephalopathy (CTE), cancer, diabetes, and autoimmune disorders, and acute and chronic infectious diseases like Lyme, malaria, and tuberculosis. We have a special interest in the molecular mechanisms of healing and tissue regeneration, innate immunity, and the interplay between genetic and environmental factors in human health and disease (Ecogenetics). My lab discovered the molecular basis of Alpers Syndrome—the oldest Mendelian form of mitochondrial disease—and we were the first to show that defects in a human DNA polymerase (the mitochondrial DNA polymerase ?, POLG) could cause human disease. We were the first to quantify the risk of neurodegeneration with infection in mitochondrial disease and the first to characterize the metabolic features of the cell danger response (CDR). My lab has developed a number of advanced technologies like biocavity laser spectroscopy, mtDNA mutation detection by mass spectrometry, and novel methods for exosome purification and analysis. We developed some of the first methods to isolate metagenomic DNA from beach sand and ocean core sediments for use in the molecular reconstruction of modern and ancient marine ecosystems. This has given us a unique window into the ecosystem biology and metabolic contributions of the gut microbiome to human health. We have developed new tools for deep phenotyping of health and disease by NextGen metabolomics and targeted mass spectrometry of samples from a wide array of biofluids, tissues, and cultured cells. These tools, along with state-of-the-art methods in mass spectrometry, stable isotope tracer studies for flux metabolomics, mitochondrial respiratory chain and polarographic analysis, permit us to dissect the metabolomic and molecular features of any disease in any cell type.

      Research in my lab has focused on the role of mitochondrial DNA replication, copy number regulation, DNA damage, and nucleotide signaling in development, aging, healing and regeneration. We also study the systems biology of monogenic and complex diseases like autism and diabetes. We were the first to quantify the risk of neurodegeneration with infection in mitochondrial disease. We were also the first to show that defects in a human DNA polymerase (the mitochondrial DNA polymerase ? POLG) could cause disease. Our lab has developed a number of advanced technologies like biocavity laser spectroscopy and mtDNA mutation detection by mass spectrometry to help with rapid and early diagnosis of mitochondrial disease. Recently, we have developed new bioinformatic methods to analyze mtDNA sequence data produced by NextGen sequencing platforms like Illumina. These tools, along with state-of-the-art methods in mitochondrial respiratory chain and polarographic analysis permit us to dissect the metabolic and molecular features of virtually any disease of interest. Immediate interests include the genesis and treatment of diabetes and autism, and mutation arrest therapies for cancer and viral disease, with special attention to the crossroads of innate immunity, inflammation, somatic cell genetics, and metabolism.

      Education
      - 2009-Present - Professor, Departments of Medicine, Pediatrics, and Pathology, University of California, San Diego, School of Medicine.
      - 2003-2009 Associate Professor, Departments of Medicine and Pediatrics, University of California, San Diego, School of Medicine.
      - 2003-2004 - Visiting Scholar (Biochemistry of the mito-chondrial DNA polymerase), National Institute of Environmental Health Sciences, Research
      - 2001-2003 - Assistant Professor, Department of Pediatrics, Biochemical Genetics and Metabolism,
      - 1997-2003 - Assistant Professor, Department of Medicine, Medical Genetics, Biochemical Genetics and Metabolism, University of California, San Diego, School of Medicine
      - 1994-1997 - Fellowship (Biochemical Genetics, mtDNA Replication), University of California, San Diego Medical Center, San Diego, CA
      - 1990-1994 - Postdoc (Retrovirology, Gene Therapy), The Salk Institute, La Jolla, CA
      - 1986, 1989 - M.D., Ph.D. (Genetics, Virology), Indiana University School of Medicine, Indianapolis, IN
      - 1981 - M.S. (Zoology), Indiana University, Bloomington, IN
      - 1979 - B.S. (Biological Sciences), University of California, Davis, CA
      - 1977-1978 - Undergraduate (Biochemistry), Georg August Universität, Göttingen, Germany

      Employment
      - 2009 - Present: Professor, Departments of Medicine, Pediatrics, and Pathology, University of California, San Diego, CA
      - 2003 - 2009: Associate Professor, Departments of Medicine and Pediatrics, University of California, San Diego, CA
      - 2001 - 2003: Assistant Professor, Department of Pediatrics, Biochemical Genetics and Metabolism, University of California, San Diego, CA
      - 1997 - 2003: Assistant Professor, Department of Medicine, Medical Genetics, Biochemical Genetics and Metabolism, University of California, San Diego, CA
      - 1986 - 1990: Intern and Resident, Internal Medicine, American Board of Internal Medicine (ABIM), Clinical Investigator Pathway, University of California, Davis
      - 1979 - 1981: X-ray Crystallographic Analysis, Beck Analytical Services, Bloomington, IN
      - 1978 - 1979: Undergraduate Research Assistant, Experimental Hematology, Radiobiology Laboratory, University of California, Davis
      - 1976: Undergraduate Research Intern, Tumor Immunology, National Institutes of Health, NCI, Bethesda, MD


      Collapse Research 
      Collapse Research Activities and Funding
      MITOCHONDRIA AND AUTISM 2010
      NIH/NINDS R13NS070555Jun 1, 2010 - May 31, 2011
      Role: Principal Investigator
      A MOUSE MODEL OF ALPERS SYNDROME
      NIH/NINDS R21NS051815Jul 17, 2006 - Jun 30, 2009
      Role: Principal Investigator

      Collapse ORNG Applications 
      Collapse Websites

      Collapse Bibliographic 
      Collapse Publications
      Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
      List All   |   Timeline
      1. Li K, Naviaux JC, Bright AT, Wang L, Naviaux R. A robust, single-injection method for targeted, broad-spectrum plasma metabolomics. Metabolomics. 2017; 13(10):122. PMID: 28943831.
        View in: PubMed
      2. Naviaux R, Curtis B, Li K, Naviaux JC, Bright AT, Reiner GE, Westerfield M, Goh S, Alaynick WA, Wang L, Capparelli EV, Adams C, Sun J, Jain S, He F, Arellano DA, Mash LE, Chukoskie L, Lincoln A, Townsend J. Low-dose suramin in autism spectrum disorder: a small, phase I/II, randomized clinical trial. Ann Clin Transl Neurol. 2017 Jul; 4(7):491-505. PMID: 28695149.
        View in: PubMed
      3. Nguyen KV, Silva S, Troncoso M, Naviaux R, Nyhan WL. Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene. Nucleosides Nucleotides Nucleic Acids. 2017 Jul 03; 36(7):452-462. PMID: 28524722.
        View in: PubMed
      4. Batova A, Altomare D, Creek KE, Naviaux R, Wang L, Li K, Green E, Williams R, Naviaux JC, Diccianni M, Yu AL. Englerin A induces an acute inflammatory response and reveals lipid metabolism and ER stress as targetable vulnerabilities in renal cell carcinoma. PLoS One. 2017; 12(3):e0172632. PMID: 28296891.
        View in: PubMed
      5. Garimella PS, Li K, Naviaux JC, Shlipak MG, Abdelmalek JA, Castro E, Capparelli EV, Naviaux R, Ix JH. Utility of Spot Urine Specimens to Assess Tubular Secretion. Am J Kidney Dis. 2017 May; 69(5):709-711. PMID: 28284759.
        View in: PubMed
      6. Naviaux R, Gordon E. Reply to Roerink et al.: Metabolomics of chronic fatigue syndrome. Proc Natl Acad Sci U S A. 2017 Feb 07; 114(6):E911-E912. PMID: 28126717.
        View in: PubMed
      7. Nguyen KV, Naviaux R, Nyhan WL. Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein. Nucleosides Nucleotides Nucleic Acids. 2017 Feb; 36(2):151-157. PMID: 28045594.
        View in: PubMed
      8. Naviaux R, Naviaux JC, Li K, Bright AT, Alaynick WA, Wang L, Baxter A, Nathan N, Anderson W, Gordon E. Reply to Vogt et al.: Metabolomics and chronic fatigue syndrome. Proc Natl Acad Sci U S A. 2016 Nov 15; 113(46):E7142-E7143. PMID: 27810963.
        View in: PubMed
      9. Naviaux R, Naviaux JC, Li K, Bright AT, Alaynick WA, Wang L, Baxter A, Nathan N, Anderson W, Gordon E. Metabolic features of chronic fatigue syndrome. Proc Natl Acad Sci U S A. 2016 09 13; 113(37):E5472-80. PMID: 27573827; PMCID: PMC5027464.
      10. Pan LA, Martin P, Zimmer T, Segreti AM, Kassiff S, McKain BW, Baca CA, Rengasamy M, Hyland K, Walano N, Steinfeld R, Hughes M, Dobrowolski SK, Pasquino M, Diler R, Perel J, Finegold DN, Peters DG, Naviaux R, Brent DA, Vockley J. Neurometabolic Disorders: Potentially Treatable Abnormalities in Patients With Treatment-Refractory Depression and Suicidal Behavior. Am J Psychiatry. 2017 Jan 01; 174(1):42-50. PMID: 27523499.
        View in: PubMed
      11. Wall CE, Whyte J, Suh JM, Fan W, Collins B, Liddle C, Yu RT, Atkins AR, Naviaux JC, Li K, Bright AT, Alaynick WA, Downes M, Naviaux R, Evans RM. High-fat diet and FGF21 cooperatively promote aerobic thermogenesis in mtDNA mutator mice. Proc Natl Acad Sci U S A. 2015 Jul 14; 112(28):8714-9. PMID: 26124126; PMCID: PMC4507233.
      12. RamachandraRao SP, Matthias MA, Kokoy-Mondrogon C, Aghania E, Park C, Kong C, Ishaya M, Madrigal A, Horng J, Khoshaba R, Bounkhoun A, Basilico F, De Palma A, Agresta AM, Awdishu L, Naviaux R, Vinetz JM, Mauri P. Correction: Proteomic analysis of urine exosomes reveals renal tubule response to leptospiral colonization in experimentally infected rats. PLoS Negl Trop Dis. 2015 Apr; 9(4):e0003718. PMID: 25860882; PMCID: PMC4393270.
      13. RamachandraRao SP, Matthias MA, Kokoy-Mondragon C, Mondrogon CK, Aghania E, Park C, Kong C, Ishaya M, Madrigal A, Horng J, Khoshaba R, Bounkhoun A, Basilico F, De Palma A, Agresta AM, Awdishu L, Naviaux R, Vinetz JM, Mauri P. Proteomic analysis of urine exosomes reveals renal tubule response to leptospiral colonization in experimentally infected rats. PLoS Negl Trop Dis. 2015 Mar; 9(3):e0003640. PMID: 25793258; PMCID: PMC4368819.
      14. Naviaux JC, Wang L, Li K, Bright AT, Alaynick WA, Williams KR, Powell SB, Naviaux R. Antipurinergic therapy corrects the autism-like features in the Fragile X (Fmr1 knockout) mouse model. Mol Autism. 2015; 6:1. PMID: 25705365; PMCID: PMC4334917.
      15. Naviaux JC, Schuchbauer MA, Li K, Wang L, Risbrough VB, Powell SB, Naviaux R. Reversal of autism-like behaviors and metabolism in adult mice with single-dose antipurinergic therapy. Transl Psychiatry. 2014 Jun 17; 4:e400. PMID: 24937094; PMCID: PMC4080315.
      16. Declèves AE, Zolkipli Z, Satriano J, Wang L, Nakayama T, Rogac M, Le TP, Nortier JL, Farquhar MG, Naviaux R, Sharma K. Regulation of lipid accumulation by AMP-activated kinase [corrected] in high fat diet-induced kidney injury. Kidney Int. 2014 Mar; 85(3):611-23. PMID: 24304883; PMCID: PMC4244908.
      17. McCloskey D, Gangoiti JA, King ZA, Naviaux R, 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. Biotechnol Bioeng. 2014 Apr; 111(4):803-15. PMID: 24249002.
        View in: PubMed
      18. Dugan LL, You YH, Ali SS, Diamond-Stanic M, Miyamoto S, DeCleves AE, Andreyev A, Quach T, Ly S, Shekhtman G, Nguyen W, Chepetan A, Le TP, Wang L, Xu M, Paik KP, Fogo A, Viollet B, Murphy A, Brosius F, Naviaux R, Sharma K. AMPK dysregulation promotes diabetes-related reduction of superoxide and mitochondrial function. J Clin Invest. 2013 Nov; 123(11):4888-99. PMID: 24135141; PMCID: PMC3809777.
      19. Golomb BA, Erickson LC, Scott-Van Zeeland AA, Koperski S, Haas RH, Wallace DC, Naviaux R, Lincoln AJ, Reiner GE, Hamilton G. Assessing bioenergetic compromise in autism spectrum disorder with 31P magnetic resonance spectroscopy: preliminary report. J Child Neurol. 2014 Feb; 29(2):187-93. PMID: 24141271; PMCID: PMC3931549.
      20. Sharma K, Karl B, Mathew AV, Gangoiti JA, Wassel CL, Saito R, Pu M, Sharma S, You YH, Wang L, Diamond-Stanic M, Lindenmeyer MT, Forsblom C, Wu W, Ix JH, Ideker T, Kopp JB, Nigam SK, Cohen CD, Groop PH, Barshop BA, Natarajan L, Nyhan WL, Naviaux R. Metabolomics reveals signature of mitochondrial dysfunction in diabetic kidney disease. J Am Soc Nephrol. 2013 Nov; 24(11):1901-12. PMID: 23949796; PMCID: PMC3810086.
      21. Naviaux R. Metabolic features of the cell danger response. Mitochondrion. 2014 May; 16:7-17. PMID: 23981537.
        View in: PubMed
      22. Akizu N, Cantagrel V, Schroth J, Cai N, Vaux K, McCloskey D, Naviaux R, Van Vleet J, Fenstermaker AG, Silhavy JL, Scheliga JS, Toyama K, Morisaki H, Sonmez FM, Celep F, Oraby A, Zaki MS, Al-Baradie R, Faqeih EA, Saleh MA, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, Morisaki T, Holmes EW, Gleeson JG. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell. 2013 Aug 01; 154(3):505-17. PMID: 23911318; PMCID: PMC3815927.
      23. Naviaux R, Zolkipli Z, Wang L, Nakayama T, Naviaux JC, Le TP, 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. 2013; 8(3):e57380. PMID: 23516405; PMCID: PMC3596371.
      24. Saneto RP, Cohen BH, Copeland WC, Naviaux R. Alpers-Huttenlocher syndrome. Pediatr Neurol. 2013 Mar; 48(3):167-78. PMID: 23419467; PMCID: PMC3578656.
      25. Nguyen KV, Naviaux R, 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.
        View in: PubMed
      26. Naviaux R. Oxidative shielding or oxidative stress? J Pharmacol Exp Ther. 2012 Sep; 342(3):608-18. PMID: 22700427.
        View in: PubMed
      27. Smith M, Flodman PL, Gargus JJ, Simon MT, Verrell K, Haas R, Reiner GE, Naviaux R, Osann K, Spence MA, Wallace DC. Mitochondrial and ion channel gene alterations in autism. Biochim Biophys Acta. 2012 Oct; 1817(10):1796-802. PMID: 22538295; PMCID: PMC3423964.
      28. Nguyen KV, Naviaux R, 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; 31(8):616-29. PMID: 22908952.
        View in: PubMed
      29. Nguyen KV, Naviaux R, Paik KK, Nyhan WL. Novel mutations in the human HPRT gene. Nucleosides Nucleotides Nucleic Acids. 2011 Jun; 30(6):440-5. PMID: 21780909.
        View in: PubMed
      30. Du A, Naviaux R, Le T, Xu C, Sommer SS, Haas RH. Fibroblast immuno-diagnosis of cytochrome oxidase (COX) deficiency in mitochondrial disease. Mitochondrion. 2011 May; 11(3):430-6. PMID: 21187165.
        View in: PubMed
      31. Nguyen KV, Naviaux R, Patra S, Barshop BA, Nyhan WL. Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. Mol Genet Metab. 2011 Feb; 102(2):218-21. PMID: 21071250.
        View in: PubMed
      32. Gayen JR, Zhang K, RamachandraRao SP, Mahata M, Chen Y, Kim HS, Naviaux R, Sharma K, Mahata SK, O'Connor DT. Role of reactive oxygen species in hyperadrenergic hypertension: biochemical, physiological, and pharmacological evidence from targeted ablation of the chromogranin a (Chga) gene. Circ Cardiovasc Genet. 2010 Oct; 3(5):414-25. PMID: 20729505; PMCID: PMC3052689.
      33. Cohen BH, Naviaux R. The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders. Methods. 2010 Aug; 51(4):364-73. PMID: 20558295.
        View in: PubMed
      34. Saneto RP, Lee IC, Koenig MK, Bao X, Weng SW, Naviaux R, Wong LJ. POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. Seizure. 2010 Apr; 19(3):140-6. PMID: 20138553; PMCID: PMC3099441.
      35. Saneto RP, Naviaux R. Polymerase gamma disease through the ages. Dev Disabil Res Rev. 2010; 16(2):163-74. PMID: 20818731.
        View in: PubMed
      36. Angly FE, Willner D, Prieto-Davó A, Edwards RA, 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 R, Rodriguez-Mueller B, Stevens R, Wegley L, Zhang L, Zhu B, Rohwer F. The GAAS metagenomic tool and its estimations of viral and microbial average genome size in four major biomes. PLoS Comput Biol. 2009 Dec; 5(12):e1000593. PMID: 20011103; PMCID: PMC2781106.
      37. Chan SS, Naviaux R, Basinger AA, Casas KA, Copeland WC. De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome. Mitochondrion. 2009 Sep; 9(5):340-5. PMID: 19501198; PMCID: PMC2748142.
      38. Rardin MJ, Wiley SE, Naviaux R, Murphy AN, Dixon JE. Monitoring phosphorylation of the pyruvate dehydrogenase complex. Anal Biochem. 2009 Jun 15; 389(2):157-64. PMID: 19341700; PMCID: PMC2713743.
      39. Naviaux R, Le TP, Bedelbaeva K, Leferovich J, Gourevitch D, Sachadyn P, Zhang XM, Clark L, Heber-Katz E. Retained features of embryonic metabolism in the adult MRL mouse. Mol Genet Metab. 2009 Mar; 96(3):133-44. PMID: 19131261; PMCID: PMC3646557.
      40. Lim KS, Naviaux R, Haas RH. Determination of DNA mutation load in human tissues using denaturing HPLC-based heteroduplex analysis. Methods Mol Biol. 2009; 554:287-99. PMID: 19513681.
        View in: PubMed
      41. Wong LJ, Naviaux R, 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 diseases due to POLG mutations. Hum Mutat. 2008 Sep; 29(9):E150-72. PMID: 18546365.
        View in: PubMed
      42. Sachadyn P, Zhang XM, Clark LD, Naviaux R, Heber-Katz E. Naturally occurring mitochondrial DNA heteroplasmy in the MRL mouse. Mitochondrion. 2008 Dec; 8(5-6):358-66. PMID: 18761428; PMCID: PMC2631412.
      43. Naviaux R. Mitochondrial control of epigenetics. Cancer Biol Ther. 2008 Aug; 7(8):1191-3. PMID: 18719362.
        View in: PubMed
      44. Saitoh A, Haas RH, Naviaux R, Salva NG, Wong JK, Spector SA. Impact of nucleoside reverse transcriptase inhibitors on mitochondrial DNA and RNA in human skeletal muscle cells. Antimicrob Agents Chemother. 2008 Aug; 52(8):2825-30. PMID: 18541728; PMCID: PMC2493104.
      45. Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, Wong LJ, Cohen BH, Naviaux R. The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab. 2008 May; 94(1):16-37. PMID: 18243024; PMCID: PMC2810849.
      46. Lim KS, Naviaux R, Wong S, Haas RH. Pitfalls in the denaturing high-performance liquid chromatography analysis of mitochondrial DNA mutation. J Mol Diagn. 2008 Jan; 10(1):102-8. PMID: 18165269; PMCID: PMC2175549.
      47. Gourley PL, Hendricks JK, McDonald AE, Copeland RG, Yaffe MP, Naviaux R. Reactive biomolecular divergence in genetically altered yeast cells and isolated mitochondria as measured by biocavity laser spectroscopy: rapid diagnostic method for studying cellular responses to stress and disease. J Biomed Opt. 2007 Sep-Oct; 12(5):054003. PMID: 17994891.
        View in: PubMed
      48. Alaynick WA, Kondo RP, Xie W, He W, Dufour CR, Downes M, Jonker JW, Giles W, Naviaux R, Giguère V, Evans RM. ERRgamma directs and maintains the transition to oxidative metabolism in the postnatal heart. Cell Metab. 2007 Jul; 6(1):13-24. PMID: 17618853.
        View in: PubMed
      49. Ashley N, Adams S, Slama A, Zeviani M, Suomalainen A, Andreu AL, Naviaux R, Poulton J. Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances. Hum Mol Genet. 2007 Jun 15; 16(12):1400-11. PMID: 17483096.
        View in: PubMed
      50. Lim KS, Naviaux R, Haas RH. Quantitative mitochondrial DNA mutation analysis by denaturing HPLC. Clin Chem. 2007 Jun; 53(6):1046-52. PMID: 17446331.
        View in: PubMed
      51. Jiang Y, Hall TA, Hofstadler SA, Naviaux R. Mitochondrial DNA mutation detection by electrospray mass spectrometry. Clin Chem. 2007 Feb; 53(2):195-203. PMID: 17158195.
        View in: PubMed
      52. Nguyen KV, Sharief FS, Chan SS, Copeland WC, Naviaux R. Molecular diagnosis of Alpers syndrome. J Hepatol. 2006 Jul; 45(1):108-16. PMID: 16545482.
        View in: PubMed
      53. Gourley PL, Hendricks JK, McDonald AE, Copeland RG, Barrett KE, Gourley CR, Singh KK, Naviaux R. Mitochondrial correlation microscopy and nanolaser spectroscopy - new tools for biophotonic detection of cancer in single cells. Technol Cancer Res Treat. 2005 Dec; 4(6):585-92. PMID: 16292878.
        View in: PubMed
      54. Chan SS, Longley MJ, Naviaux R, Copeland WC. Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome. DNA Repair (Amst). 2005 Dec 08; 4(12):1381-9. PMID: 16181814.
        View in: PubMed
      55. Naviaux R, Nguyen KV. POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion. Ann Neurol. 2005 Sep; 58(3):491. PMID: 16130100.
        View in: PubMed
      56. Petit C, Piétri-Rouxel F, Lesne A, Leste-Lasserre T, Mathez D, Naviaux R, Sonigo P, Bouillaud F, Leibowitch J. Oxygen consumption by cultured human cells is impaired by a nucleoside analogue cocktail that inhibits mitochondrial DNA synthesis. Mitochondrion. 2005 Jun; 5(3):154-61. PMID: 16050981.
        View in: PubMed
      57. Naviaux R. Developing a systematic approach to the diagnosis and classification of mitochondrial disease. Mitochondrion. 2004 Sep; 4(5-6):351-61. PMID: 16120397.
        View in: PubMed
      58. Barshop BA, Naviaux R, McGowan KA, Levine F, Nyhan WL, Loupis-Geller A, Haas RH. Chronic treatment of mitochondrial disease patients with dichloroacetate. Mol Genet Metab. 2004 Sep-Oct; 83(1-2):138-49. PMID: 15464428.
        View in: PubMed
      59. Naviaux R, Nguyen KV. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol. 2004 May; 55(5):706-12. PMID: 15122711.
        View in: PubMed
      60. McGowan KA, Nyhan WL, Barshop BA, Naviaux R, Yu A, Haas RH, Townsend JJ. The role of methionine in ethylmalonic encephalopathy with petechiae. Arch Neurol. 2004 Apr; 61(4):570-4. PMID: 15096407.
        View in: PubMed
      61. Petit C, Mathez D, Barthélémy C, Leste-Lasserre T, Naviaux R, 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. 2003 Aug 01; 33(4):461-9. PMID: 12869834.
        View in: PubMed
      62. Nyhan WL, Khanna A, Barshop BA, Naviaux R, Precht AF, Lavine JE, Hart MA, Hainline BE, Wappner RS, Nichols S, Haas RH. Pyruvate carboxylase deficiency--insights from liver transplantation. Mol Genet Metab. 2002 Sep-Oct; 77(1-2):143-9. PMID: 12359142.
        View in: PubMed
      63. Edmonds JL, Kirse DJ, Kearns D, Deutsch R, Spruijt L, Naviaux R. The otolaryngological manifestations of mitochondrial disease and the risk of neurodegeneration with infection. Arch Otolaryngol Head Neck Surg. 2002 Apr; 128(4):355-62. PMID: 11926907.
        View in: PubMed
      64. Naviaux R. Assay of mtDNA polymerase gamma from human tissues. Methods Mol Biol. 2002; 197:259-71. PMID: 12013801.
        View in: PubMed