Publications

Our lab was founded in 1994 to help children and adults with mitochondrial disease. This work has launched us on a trail of discovery that is now shedding light on the role of mitochondria in cell danger and healing with implications for over half of all complex chronic disease from Autism to Alzheimer’s

Most Recent Publications:

  • Metabolic features of chronic fatigue syndrome. Naviaux RK, Naviaux JC, Li K, Bright AT, Alaynick WA, Wang L, Baxter A, Nathan N, Anderson W, Gordon E. Proc Natl Acad Sci U S A. 2016 Aug 29. PMID: N/A (PDF)

    Here we report a metabolomics study of Chronic Fatigue Syndrome (CFS) in 45 CFS patients and 39 controls. Our data show that despite the heterogeneity of factors leading to CFS, the cellular metabolic response in patients was homogeneous, statistically robust, and chemically similar to the evolutionarily conserved persistence response to environmental stress known as dauer.

  • Neurometabolic Disorders: Potentially Treatable Abnormalities in Patients With Treatment-Refractory Depression and Suicidal Behavior. 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 RK, Brent DA, Vockley J. Am J Psychiatry. 2016 Aug 13. PMID: 27523499

    A metabolomic evaluation of 33 adolescent and young adult patients with well-characterized histories of treatment-refractory depression and 16 healthy comparison subjects. Examination of metabolic disorders in treatment-refractory depression identified an unexpectedly large proportion of patients with potentially treatable abnormalities. The etiology of these abnormalities remains to be determined.

  • Metabolic features of the cell danger response. Naviaux RK. Mitochondrion. 2014 May;16:7-17. doi: 10.1016/j.mito.2013.08.006. Epub 2013 Aug 24. Review. PMID: 23981537 (PDF)

    We review the cell danger response (CDR), the evolutionarily conserved metabolic response that protects cells and hosts from harm.

  • More Publications:

    High-fat diet and FGF21 cooperatively promote aerobic thermogenesis in mtDNA mutator mice. 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 RK, Evans RM. Proc Natl Acad Sci U S A. 2015 Jul 14;112(28):8714-9. PMID: 26124126

    Antipurinergic therapy corrects the autism-like features in the Fragile X (Fmr1 knockout) mouse model. Naviaux JC, Wang L, Li K, Bright AT, Alaynick WA, Williams KR, Powell SB, Naviaux RK. Mol Autism. 2015 Jan 13;6:1. doi: 10.1186/2040-2392-6-1. eCollection 2015. PMID: 25705365

    Reversal of autism-like behaviors and metabolism in adult mice with single-dose antipurinergic therapy. Naviaux JC, Schuchbauer MA, Li K, Wang L, Risbrough VB, Powell SB, Naviaux RK. Transl Psychiatry. 2014 Jun 17;4:e400. doi: 10.1038/tp.2014.33. PMID: 24937094

    A model-driven quantitative metabolomics analysis of aerobic and anaerobic metabolism in E. coli K-12 MG1655 that is biochemically and thermodynamically consistent. McCloskey D, Gangoiti JA, King ZA, Naviaux RK, Barshop BA, Palsson BO, Feist AM. Biotechnol Bioeng. 2014 Apr;111(4):803-15. PMID: 24249002

    AMPK dysregulation promotes diabetes-related reduction of superoxide and mitochondrial function. 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 RK, Sharma K. J Clin Invest. 2013 Nov;123(11):4888-99. PMID: 24135141

    Metabolomics reveals signature of mitochondrial dysfunction in diabetic kidney disease. 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, et al. J Am Soc Nephrol. 2013 Nov;24(11):1901-12. PMID: 23949796

    AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Akizu N, Cantagrel V, Schroth J, Cai N, Vaux K, McCloskey D, Naviaux RK, 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, et al. Cell. 2013 Aug 1;154(3):505-17. PMID: 23911318

    Antipurinergic therapy corrects the autism-like features in the poly(IC) mouse model. Naviaux RK, Zolkipli Z, Wang L, Nakayama T, Naviaux JC, Le TP, Schuchbauer MA, Rogac M, Tang Q, Dugan LL, Powell SB. PLoS One. 2013;8(3):e57380. PMID: 23516405

    Alpers-Huttenlocher syndrome. Saneto RP, Cohen BH, Copeland WC, Naviaux RK. Pediatr Neurol. 2013 Mar;48(3):167-78. PMID: 23419467

    Lesch-Nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family members. Nguyen KV, Naviaux RK, Paik KK, Nakayama T, Nyhan WL. Nucleosides Nucleotides Nucleic Acids. 2012;31(8):616-29. PMID: 22908952

    Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA. Nguyen KV, Naviaux RK, Paik KK, Nyhan WL. Mol Genet Metab. 2012 Aug;106(4):498-501. PMID: 22766437

    Oxidative shielding or oxidative stress? Naviaux RK. J Pharmacol Exp Ther. 2012 Sep;342(3):608-18. PMID: 22700427 (PDF)

    Novel mutations in the human HPRT gene. Nguyen KV, Naviaux RK, Paik KK, Nyhan WL. Nucleosides Nucleotides Nucleic Acids. 2011 Jun;30(6):440-5. PMID: 21780909

    Fibroblast immuno-diagnosis of cytochrome oxidase (COX) deficiency in mitochondrial disease. Du A, Naviaux RK, Le T, Xu C, Sommer SS, Haas RH. Mitochondrion. 2011 May;11(3):430-6. PMID: 21187165

    Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. Nguyen KV, Naviaux RK, Patra S, Barshop BA, Nyhan WL. Mol Genet Metab. 2011 Feb;102(2):218-21. PMID: 21071250

    Polymerase gamma disease through the ages. Saneto RP, Naviaux RK. Dev Disabil Res Rev. 2010;16(2):163-74. PMID: 20818731

    Role of reactive oxygen species in hyperadrenergic hypertension: biochemical, physiological, and pharmacological evidence from targeted ablation of the chromogranin a (Chga) gene. Gayen JR, Zhang K, RamachandraRao SP, Mahata M, Chen Y, Kim HS, Naviaux RK, Sharma K, Mahata SK, O'Connor DT. Circ Cardiovasc Genet. 2010 Oct;3(5):414-25. PMID: 20729505

    The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders. Cohen BH, Naviaux RK. Methods. 2010 Aug;51(4):364-73. PMID: 20558295

    POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. Saneto RP, Lee IC, Koenig MK, Bao X, Weng SW, Naviaux RK, Wong LJ. Seizure. 2010 Apr;19(3):140-6. PMID: 20138553

    The GAAS metagenomic tool and its estimations of viral and microbial average genome size in four major biomes. Angly FE, Willner D, Prieto-Dav 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 RK, et al. PLoS Comput Biol. 2009 Dec;5(12):e1000593. PMID: 20011103

    Determination of DNA mutation load in human tissues using denaturing HPLC-based heteroduplex analysis. Lim KS, Naviaux RK, Haas RH. Methods Mol Biol. 2009;554:287-99. PMID: 19513681

    De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome. Chan SS, Naviaux RK, Basinger AA, Casas KA, Copeland WC. Mitochondrion. 2009 Sep;9(5):340-5. PMID: 19501198

    Monitoring phosphorylation of the pyruvate dehydrogenase complex. Rardin MJ, Wiley SE, Naviaux RK, Murphy AN, Dixon JE. Anal Biochem. 2009 Jun 15;389(2):157-64. PMID: 19341700

    Retained features of embryonic metabolism in the adult MRL mouse. Naviaux RK, Le TP, Bedelbaeva K, Leferovich J, Gourevitch D, Sachadyn P, Zhang XM, Clark L, Heber-Katz E. Mol Genet Metab. 2009 Mar;96(3):133-44. PMID: 19131261

    Naturally occurring mitochondrial DNA heteroplasmy in the MRL mouse. Sachadyn P, Zhang XM, Clark LD, Naviaux RK, Heber-Katz E. Mitochondrion. 2008 Dec;8(5-6):358-66. PMID: 18761428

    Mitochondrial control of epigenetics. Naviaux RK. Cancer Biol Ther. 2008 Aug;7(8):1191-3.PMID: 18719362

    Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Wong LJ, 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. Hum Mutat. 2008 Sep;29(9):E150-72. PMID: 18546365

    Impact of nucleoside reverse transcriptase inhibitors on mitochondrial DNA and RNA in human skeletal muscle cells. Saitoh A, Haas RH, Naviaux RK, Salva NG, Wong JK, Spector SA. Antimicrob Agents Chemother. 2008 Aug;52(8):2825-30. PMID: 18541728

    The in-depth evaluation of suspected mitochondrial disease. Mitochondrial Medicine Society's Committee on Diagnosis, Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, Wong LJ, Cohen BH, Naviaux RK. Mol Genet Metab. 2008 May;94(1):16-37. PMID: 18243024

    Pitfalls in the denaturing high-performance liquid chromatography analysis of mitochondrial DNA mutation. Lim KS, Naviaux RK, Wong S, Haas RH. J Mol Diagn. 2008 Jan;10(1):102-8. PMID: 18165269

    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. Gourley PL, Hendricks JK, McDonald AE, Copeland RG, Yaffe MP, Naviaux RK. J Biomed Opt. 2007 Sep-Oct;12(5):054003.PMID: 17994891

    ERRgamma directs and maintains the transition to oxidative metabolism in the postnatal heart. Alaynick WA, Kondo RP, Xie W, He W, Dufour CR, Downes M, Jonker JW, Giles W, Naviaux RK, Gigure V, Evans RM. Cell Metab. 2007 Jul;6(1):13-24.PMID: 17618853

    Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances. Ashley N, Adams S, Slama A, Zeviani M, Suomalainen A, Andreu AL, Naviaux RK, Poulton J. Hum Mol Genet. 2007 Jun 15;16(12):1400-11.PMID: 17483096

    Quantitative mitochondrial DNA mutation analysis by denaturing HPLC. Lim KS, Naviaux RK, Haas RH. Clin Chem. 2007 Jun;53(6):1046-52.PMID: 17446331

    Meeting report: mitochondrial DNA and cancer epidemiology. Verma M, Naviaux RK, Tanaka M, Kumar D, Franceschi C, Singh KK. Cancer Res. 2007 Jan 15;67(2):437-9.PMID: 17213255

    Mitochondrial DNA mutation detection by electrospray mass spectrometry. Jiang Y, Hall TA, Hofstadler SA, Naviaux RK. Clin Chem. 2007 Feb;53(2):195-203.PMID: 17158195

    Molecular diagnosis of Alpers syndrome. Nguyen KV, Sharief FS, Chan SS, Copeland WC, Naviaux RK. J Hepatol. 2006 Jul;45(1):108-16.PMID: 16545482

    Sand DNA - a genetic library of life at the water's edge Naviaux RK, Good B, McPherson JD, Steffen DL, Markusic D, Ransom B, Coreil J. Marine Ecology Progress Series. 2005;301:9-22. PMID: 0

    Ultrafast nanolaser flow device for detecting cancer in single cells. Gourley PL, Hendricks JK, McDonald AE, Copeland RG, Barrett KE, Gourley CR, Naviaux RK. Biomed Microdevices. 2005 Dec;7(4):331-9.PMID: 16404511

    Mitochondrial correlation microscopy and nanolaser spectroscopy - new tools for biophotonic detection of cancer in single cells. Gourley PL, Hendricks JK, McDonald AE, Copeland RG, Barrett KE, Gourley CR, Singh KK, Naviaux RK. Technol Cancer Res Treat. 2005 Dec;4(6):585-92.PMID: 16292878

    Mitochondrial correlation as a biophotonic marker for detecting cancer in a single cell Gourley PL, Hendricks JK, McDonald AE, Copeland RG, Barrett KE, Gourley CR, Naviaux RK. Biomedical Optics. 2005, Mar 29;pp. 461-472.PMID: 0

    Optical phenotyping of human mitochondria in a biocavity laser Gourley PL, Naviaux RK. IEEE Journal of Selected Topics in Quantum Electronics. 2005;11:818-826.PMID: 0

    Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome. Chan SS, Longley MJ, Naviaux RK, Copeland WC. DNA Repair (Amst). 2005 Dec 8;4(12):1381-9.PMID: 16181814

    POLG mutations in Alpers syndrome. Nguyen KV, stergaard E, Ravn SH, Balslev T, Danielsen ER, Vardag A, McKiernan PJ, Gray G, Naviaux RK. Neurology. 2005 Nov 8;65(9):1493-5.PMID: 16177225

    POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion. Naviaux RK, Nguyen KV. Ann Neurol. 2005 Sep;58(3):491.PMID: 16130100

    Developing a systematic approach to the diagnosis and classification of mitochondrial disease. Naviaux RK. Mitochondrion. 2004 Sep;4(5-6):351-61.PMID: 16120397

    Oxygen consumption by cultured human cells is impaired by a nucleoside analogue cocktail that inhibits mitochondrial DNA synthesis. Petit C, Pitri-Rouxel F, Lesne A, Leste-Lasserre T, Mathez D, Naviaux RK, Sonigo P, Bouillaud F, Leibowitch J. Mitochondrion. 2005 Jun;5(3):154-61.PMID: 16050981

    Statin myotoxicity is associated with changes in the cardiopulmonary function. Phillips PS, Phillips CT, Sullivan MJ, Naviaux RK, Haas RH. Atherosclerosis. 2004 Nov;177(1):183-8.PMID: 15488882

    Chronic treatment of mitochondrial disease patients with dichloroacetate. Barshop BA, Naviaux RK, McGowan KA, Levine F, Nyhan WL, Loupis-Geller A, Haas RH. Mol Genet Metab. 2004 Sep-Oct;83(1-2):138-49.PMID: 15464428

    POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Naviaux RK, Nguyen KV. Ann Neurol. 2004 May;55(5):706-12.PMID: 15122711

    The role of methionine in ethylmalonic encephalopathy with petechiae. McGowan KA, Nyhan WL, Barshop BA, Naviaux RK, Yu A, Haas RH, Townsend JJ. Arch Neurol. 2004 Apr;61(4):570-4.PMID: 15096407

    Quantitation of blood lymphocyte mitochondrial DNA for the monitoring of antiretroviral drug-induced mitochondrial DNA depletion. Petit C, Mathez D, Barthmy C, Leste-Lasserre T, Naviaux RK, Sonigo P, Leibowitch J. J Acquir Immune Defic Syndr. 2003 Aug 1;33(4):461-9.PMID: 12869834

    Pyruvate carboxylase deficiency--insights from liver transplantation. Nyhan WL, Khanna A, Barshop BA, Naviaux RK, Precht AF, Lavine JE, Hart MA, Hainline BE, Wappner RS, Nichols S, Haas RH. Mol Genet Metab. 2002 Sep-Oct;77(1-2):143-9.PMID: 12359142

    Assay of mtDNA polymerase gamma from human tissues. Naviaux RK. Methods Mol Biol. 2002;197:259-71.PMID: 12013801

    The otolaryngological manifestations of mitochondrial disease and the risk of neurodegeneration with infection. Edmonds JL, Kirse DJ, Kearns D, Deutsch R, Spruijt L, Naviaux RK. Arch Otolaryngol Head Neck Surg. 2002 Apr;128(4):355-62.PMID: 11926907

    Need for public debate about fertility treatments. Naviaux RK, Singh KK. Nature. 2001 Sep 27;413(6854):347.PMID: 11574848

    Nerve conduction changes in patients with mitochondrial diseases treated with dichloroacetate. Spruijt L, Naviaux RK, McGowan KA, Nyhan WL, Sheean G, Haas RH, Barshop BA. Muscle Nerve. 2001 Jul;24(7):916-24.PMID: 11410919

    Medium-chain acyl coenzyme A dehydrogenase deficiency: occurrence in an infant and his father. Bodman M, Smith D, Nyhan WL, Naviaux RK. Arch Neurol. 2001 May;58(5):811-4.PMID: 11346377

    Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria. Scaglia F, Sutton VR, Bodamer OA, Vogel H, Shapira SK, Naviaux RK, Vladutiu GD. J Child Neurol. 2001 Feb;16(2):136-8.PMID: 11292221

    Mitochondrial DNA disorders. Naviaux RK. Eur J Pediatr. 2000 Dec;159 Suppl 3:S219-26.PMID: 11216904

    Organismal effects of mitochondrial dysfunction. Naviaux RK, McGowan KA. Hum Reprod. 2000 Jul;15 Suppl 2:44-56.PMID: 11041512

    Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation. Graf WD, Marin-Garcia J, Gao HG, Pizzo S, Naviaux RK, Markusic D, Barshop BA, Courchesne E, Haas RH. J Child Neurol. 2000 Jun;15(6):357-61.PMID: 10868777

    Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria. Barshop BA, Nyhan WL, Naviaux RK, McGowan KA, Friedlander M, Haas RH. Mol Genet Metab. 2000 Jan;69(1):64-8.PMID: 10655159

    Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria. Barshop BA, Nyhan WL, Naviaux RK, McGowan KA, Friedlander M, Haas RH. Mol Genet Metab. 2000 Jan;69(1):64-8.PMID: 10655159

    Sensitive assay for mitochondrial DNA polymerase gamma. Naviaux RK, Markusic D, Barshop BA, Nyhan WL, Haas RH. Clin Chem. 1999 Oct;45(10):1725-33.PMID: 10508117

    Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome. Naviaux RK, Nyhan WL, Barshop BA, Poulton J, Markusic D, Karpinski NC, Haas RH. Ann Neurol. 1999 Jan;45(1):54-8.PMID: 9894877

    Restoration of growth arrest by p16INK4, p21WAF1, pRB, and p53 is dependent on the integrity of the endogenous cell-cycle control pathways in human glioblastoma cell lines. Costanzi-Strauss E, Strauss BE, Naviaux RK, Haas M. Exp Cell Res. 1998 Jan 10;238(1):51-62.PMID: 9457056

    The pCL vector system: rapid production of helper-free, high-titer, recombinant retroviruses. Naviaux RK, Costanzi E, Haas M, Verma IM. J Virol. 1996 Aug;70(8):5701-5.PMID: 8764092

    Cytokine gene therapy with interleukin-2-transduced fibroblasts: effects of IL-2 dose on anti-tumor immunity. Fakhrai H, Shawler DL, Gjerset R, Naviaux RK, Koziol J, Royston I, Sobol RE. Hum Gene Ther. 1995 May;6(5):591-601.PMID: 7578396

    Gene therapy via primary myoblasts: long-term expression of factor IX protein following transplantation in vivo. Dai Y, Roman M, Naviaux RK, Verma IM. Proc Natl Acad Sci U S A. 1992 Nov 15;89(22):10892-5.PMID: 1332058

    Retroviral vectors for persistent expression in vivo. Naviaux RK, Verma IM. Curr Opin Biotechnol. 1992 Oct;3(5):540-7.PMID: 1368938

    Circulating human or canine factor IX from retrovirally transduced primary myoblasts and established myoblast cell lines grafted into murine skeletal muscle. Roman M, Axelrod JH, Dai Y, Naviaux RK, Friedmann T, Verma IM. Somat Cell Mol Genet. 1992 May;18(3):247-58.PMID: 1496420

    Human gene therapy. Verma IM, Naviaux RK. Curr Opin Genet Dev. 1991 Jun;1(1):54-9.PMID: 1840879

    Construction and characterization of two infectious molecular clones of encephalomyocarditis virus. Naviaux RK, Cohen SH, Vanden Brink KM, Jordan GW. J Virol. 1990 Feb;64(2):913-7.PMID: 2153252

    Comparison of the nucleotide sequences of diabetogenic and nondiabetogenic encephalomyocarditis virus. Cohen SH, Naviaux RK, vanden Brink KM, Jordan GW. Virology. 1988 Oct;166(2):603-7.PMID: 2845665

    Micro competition enzyme linked immunosorbant assay for human apolipoprotein B. Unune A, Naviaux RK, Christian JC, Goldstein DJ. Ann Clin Lab Sci. 1986 Jul-Aug;16(4):278-88.PMID: 3740797

    Microimmunoassay permits determination of concentrations in immunohistochemistry controls. Goldstein DJ, Davis MM, Naviaux RK, Dailey TL, Ulbright TM. J Histochem Cytochem. 1986 Apr;34(4):543-5.PMID: 2419398