Robert K Naviaux

Summary

Affiliation: University of California
Country: USA

Publications

  1. pmc Antipurinergic therapy corrects the autism-like features in the poly(IC) mouse model
    Robert K Naviaux
    The Mitochondrial and Metabolic Disease Center, University of California San Diego School of Medicine, San Diego, California, USA
    PLoS ONE 8:e57380. 2013
  2. doi request reprint Oxidative shielding or oxidative stress?
    Robert K Naviaux
    University of California San Diego School of Medicine, 214 Dickinson St, Bldg CTF, Rm C102, San Diego, CA 92103 8467, USA
    J Pharmacol Exp Ther 342:608-18. 2012
  3. ncbi request reprint POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion
    Robert K Naviaux
    Department of Medicine, Mitochondrial and Metabolic Disease Center, University of California, San Diego School of Medicine, San Diego, CA 92103 8467, USA
    Ann Neurol 55:706-12. 2004
  4. pmc Retained features of embryonic metabolism in the adult MRL mouse
    Robert K Naviaux
    Departments of Medicine and Pediatrics, The Mitochondrial and Metabolic Disease Center, University of California, San Diego, CA 92103 8467, USA
    Mol Genet Metab 96:133-44. 2009
  5. ncbi request reprint Sensitive assay for mitochondrial DNA polymerase gamma
    R K Naviaux
    The Mitochondrial and Metabolic Disease Center, University of California, San Diego, USA
    Clin Chem 45:1725-33. 1999
  6. ncbi request reprint Mitochondrial DNA disorders
    R K Naviaux
    Department of Medicine, University of California, San Diego 92103 8467, USA
    Eur J Pediatr 159:S219-26. 2000
  7. ncbi request reprint Organismal effects of mitochondrial dysfunction
    R K Naviaux
    Mitochondrial and Metabolic Disease Center, University of California, San Diego, School of Medicine, 92103 8467, USA
    Hum Reprod 15:44-56. 2000
  8. doi request reprint Lesch-Nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family members
    Khue Vu Nguyen
    Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California San Diego, San Diego, California 92103 8467, USA
    Nucleosides Nucleotides Nucleic Acids 31:616-29. 2012
  9. pmc Pitfalls in the denaturing high-performance liquid chromatography analysis of mitochondrial DNA mutation
    Kok Seong Lim
    Department of Neurosciences, School of Medicine, University of California San Diego, La Jolla, California, USA
    J Mol Diagn 10:102-8. 2008
  10. doi request reprint Regulation of lipid accumulation by AMK-activated kinase in high fat diet-induced kidney injury
    Anne Emilie Declèves
    1 Center for Renal Translational Medicine, Division of Nephrology Hypertension, Department of Medicine, University of California, San Diego, California, USA 2 Division of Nephrology Hypertension, Veterans Affairs San Diego Healthcare System, Veterans Medical Research Foundation, San Diego, California, USA 3 Laboratory of Experimental Nephrology, Faculty of Medicine, Universite Libre de Bruxelles ULB, Brussels, Belgium
    Kidney Int 85:611-23. 2014

Collaborators

Detail Information

Publications34

  1. pmc Antipurinergic therapy corrects the autism-like features in the poly(IC) mouse model
    Robert K Naviaux
    The Mitochondrial and Metabolic Disease Center, University of California San Diego School of Medicine, San Diego, California, USA
    PLoS ONE 8:e57380. 2013
    ..The role of purinergic signaling has not yet been explored in autism spectrum disorders...
  2. doi request reprint Oxidative shielding or oxidative stress?
    Robert K Naviaux
    University of California San Diego School of Medicine, 214 Dickinson St, Bldg CTF, Rm C102, San Diego, CA 92103 8467, USA
    J Pharmacol Exp Ther 342:608-18. 2012
    ..Identification of the causal chemistry and environmental factors that trigger innate immunity and metabolic memory that initiate and sustain oxidative shielding is paramount for human health...
  3. ncbi request reprint POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion
    Robert K Naviaux
    Department of Medicine, Mitochondrial and Metabolic Disease Center, University of California, San Diego School of Medicine, San Diego, CA 92103 8467, USA
    Ann Neurol 55:706-12. 2004
    ..In addition, each affected child was heterozygous for the G1681A mutation in exon 7 that led to an Ala467Thr substitution in POLG, within the linker region of the protein...
  4. pmc Retained features of embryonic metabolism in the adult MRL mouse
    Robert K Naviaux
    Departments of Medicine and Pediatrics, The Mitochondrial and Metabolic Disease Center, University of California, San Diego, CA 92103 8467, USA
    Mol Genet Metab 96:133-44. 2009
    ..The retention of embryonic features of metabolism in adulthood is rare in mammals. The MRL mouse provides a unique experimental window into the relationship between metabolism, stem cell biology, and regeneration...
  5. ncbi request reprint Sensitive assay for mitochondrial DNA polymerase gamma
    R K Naviaux
    The Mitochondrial and Metabolic Disease Center, University of California, San Diego, USA
    Clin Chem 45:1725-33. 1999
    ..Primary or secondary deficiencies in the activity of DNA polymerase gamma may lead to mitochondrial DNA depletion. We describe a sensitive and robust clinical assay for this enzyme...
  6. ncbi request reprint Mitochondrial DNA disorders
    R K Naviaux
    Department of Medicine, University of California, San Diego 92103 8467, USA
    Eur J Pediatr 159:S219-26. 2000
    ..Mutations in respiratory chain proteins encoded by mtDNA result in phenotypes ranging from exercise intolerance to blindness, ataxia, dystonia, dementia, and Leigh syndrome...
  7. ncbi request reprint Organismal effects of mitochondrial dysfunction
    R K Naviaux
    Mitochondrial and Metabolic Disease Center, University of California, San Diego, School of Medicine, 92103 8467, USA
    Hum Reprod 15:44-56. 2000
    ..The principles of the mitochondrial clinical assessment scale I (MCAS-I) are presented to assist in the development of diagnostic spectra of mitochondrial disease...
  8. doi request reprint Lesch-Nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family members
    Khue Vu Nguyen
    Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California San Diego, San Diego, California 92103 8467, USA
    Nucleosides Nucleotides Nucleic Acids 31:616-29. 2012
    ..This approach can be applied for understanding genotype-phenotype correlations for other human genetic diseases...
  9. pmc Pitfalls in the denaturing high-performance liquid chromatography analysis of mitochondrial DNA mutation
    Kok Seong Lim
    Department of Neurosciences, School of Medicine, University of California San Diego, La Jolla, California, USA
    J Mol Diagn 10:102-8. 2008
    ....
  10. doi request reprint Regulation of lipid accumulation by AMK-activated kinase in high fat diet-induced kidney injury
    Anne Emilie Declèves
    1 Center for Renal Translational Medicine, Division of Nephrology Hypertension, Department of Medicine, University of California, San Diego, California, USA 2 Division of Nephrology Hypertension, Veterans Affairs San Diego Healthcare System, Veterans Medical Research Foundation, San Diego, California, USA 3 Laboratory of Experimental Nephrology, Faculty of Medicine, Universite Libre de Bruxelles ULB, Brussels, Belgium
    Kidney Int 85:611-23. 2014
    ..AMPK activation normalizes the changes in renal lipid content despite chronic exposure to lipid challenge. ..
  11. doi request reprint Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA
    Khue Vu Nguyen
    Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, University of California, San Diego, School of Medicine, San Diego, CA 92103 8467, USA
    Mol Genet Metab 106:498-501. 2012
    ....
  12. ncbi request reprint Molecular diagnosis of Alpers syndrome
    Khue V Nguyen
    Department of Medicine, University of California, San Diego School of Medicine, 214 Dickinson Street, Bldg CTF, Rm C 103, San Diego, CA 92103 8467, USA
    J Hepatol 45:108-16. 2006
    ..Mutations in the gene for the mitochondrial DNA polymerase (POLG) have recently been shown to cause this disorder...
  13. ncbi request reprint Chronic treatment of mitochondrial disease patients with dichloroacetate
    Bruce A Barshop
    Department of Pediatrics, University of California San Diego, La Jolla, CA 92093 0830, USA
    Mol Genet Metab 83:138-49. 2004
    ....
  14. pmc Impact of nucleoside reverse transcriptase inhibitors on mitochondrial DNA and RNA in human skeletal muscle cells
    Akihiko Saitoh
    Division of Infectious Diseases, Department of Pediatrics, University of California San Diego, 9500 Gilman Drive, La Jolla, CA 92093 0672, USA
    Antimicrob Agents Chemother 52:2825-30. 2008
    ..These findings may be of particular importance in developing countries, where ddI is widely used for first-line treatment of HIV-infected children...
  15. pmc The in-depth evaluation of suspected mitochondrial disease
    Richard H Haas
    Department of Neurosciences, University of California San Diego, La Jolla, CA and Rady Children s Hospital San Diego, San Diego, CA, United States
    Mol Genet Metab 94:16-37. 2008
    ..The aim of this work is to facilitate the diagnosis of mitochondrial disease by geneticists, neurologists, and other metabolic specialists who face the challenge of evaluating patients of all ages with suspected mitochondrial disease...
  16. ncbi request reprint Assay of mtDNA polymerase gamma from human tissues
    Robert K Naviaux
    Mitochondrial and Metabolic Disease Center, Department of Medicine, University of California, San Diego, School of Medicine, San Diego, CA, USA
    Methods Mol Biol 197:259-71. 2002
  17. doi request reprint Novel mutations in the human HPRT gene
    Khue Vu Nguyen
    Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, University of California, San Diego, School of Medicine, San Diego, California 92103 8467, USA
    Nucleosides Nucleotides Nucleic Acids 30:440-5. 2011
    ..133A > G, p.45R > G; c.35A > C, p.12D > A; c.88delG; exon 7: c.530A > T, p.177D > V; and c.318 + 1G > C: IVS3 + 1G > C splice site mutation...
  18. pmc Monitoring phosphorylation of the pyruvate dehydrogenase complex
    Matthew J Rardin
    Department of Pharmacology, University of California, San Diego, La Jolla, CA 92093, USA
    Anal Biochem 389:157-64. 2009
    ....
  19. ncbi request reprint POLG mutations in Alpers syndrome
    K V Nguyen
    Mitochondrial and Metabolic Disease Center, Department of Medicine, University of California, San Diego, CA, USA
    Neurology 65:1493-5. 2005
    ..Mitochondrial respiratory chain studies in skeletal muscle were normal in each case. Nine combinations of mutant POLG alleles that cause Alpers syndrome are summarized...
  20. doi request reprint A model-driven quantitative metabolomics analysis of aerobic and anaerobic metabolism in E. coli K-12 MG1655 that is biochemically and thermodynamically consistent
    Douglas McCloskey
    Department of Bioengineering, University of California, San Diego, 9500 Gilman Drive, La Jolla, California, 92093 0412
    Biotechnol Bioeng 111:803-15. 2014
    ..This analysis also identified enzyme promiscuity for the pykA gene, that is critical for anaerobic growth, and which has not been previously incorporated into metabolic models of E coli...
  21. doi request reprint Assessing bioenergetic compromise in autism spectrum disorder with 31P magnetic resonance spectroscopy: preliminary report
    Beatrice A Golomb
    1Department of Family and Preventive Medicine, University of California, San Diego, La Jolla, CA, USA
    J Child Neurol 29:187-93. 2014
    ....
  22. doi request reprint Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria
    Khue Vu Nguyen
    Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California San Diego, La Jolla, CA 92093, USA
    Mol Genet Metab 102:218-21. 2011
    ..1065A>T; p.355L>F), (exon 15: c.1430A>G; p.477Q>R), (exon 16: c.1549G>A; p.517G>R), (exon 16: c.1559A>C; p.520Y>S) mutant alleles from five MCC-deficient patients...
  23. ncbi request reprint Quantitative mitochondrial DNA mutation analysis by denaturing HPLC
    Kok Seong Lim
    Department of Neurosciences, School of Medicine, University of California San Diego, La Jolla, CA 92093 0935, USA
    Clin Chem 53:1046-52. 2007
    ..The quantification and mathematical modeling of DHPLC results is, however, underexplored...
  24. ncbi request reprint Pyruvate carboxylase deficiency--insights from liver transplantation
    William L Nyhan
    Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA
    Mol Genet Metab 77:143-9. 2002
    ..Concentrations of glutamine in cerebrospinal fluid were low and did not improve with liver transplantation...
  25. ncbi request reprint The otolaryngological manifestations of mitochondrial disease and the risk of neurodegeneration with infection
    Joseph L Edmonds
    The Mitochondrial and Metabolic Disease Center, University of California San Diego School of Medicine, 200 W Arbor Dr, San Diego, CA 92103 8467
    Arch Otolaryngol Head Neck Surg 128:355-62. 2002
    ..To report the nature and extent of hearing loss and other otolaryngological problems in patients with mitochondrial disease, and to document the risk of neurodegeneration with infection...
  26. ncbi request reprint POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion
    Robert K Naviaux
    Ann Neurol 58:491. 2005
  27. ncbi request reprint Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome
    Sherine S L Chan
    Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institute of Health, Research Triangle Park, NC 27709, USA
    DNA Repair (Amst) 4:1381-9. 2005
    ..Therefore, the Alpers phenotype in this patient was a consequence of a single-copy gene dose of the A467T allele, and selective elimination of transcripts bearing the E873stop mutation...
  28. ncbi request reprint Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances
    Neil Ashley
    Mitochondrial Genetics Group, Nuffield Department of Obstetrics and Gynaecology, Level 3, Women s Centre, The John Radcliffe Hospital, Oxford OX3 9DU, UK
    Hum Mol Genet 16:1400-11. 2007
    ..Because deviations from the normal concentrations of dNTPs are known to be mutagenic, we suggest that intramitochondrial nucleotide imbalance could underlie the multiple mtDNA mutations observed in these patients...
  29. ncbi request reprint Mitochondrial correlation microscopy and nanolaser spectroscopy - new tools for biophotonic detection of cancer in single cells
    Paul L Gourley
    Biomolecular Interfaces and Systems, Sandia National Laboratories, Albuquerque, NM 87185, USA
    Technol Cancer Res Treat 4:585-92. 2005
    ..These optical methods represent powerful new tools that hold promise for detecting cancer at an early stage and may help to limit delays in diagnosis and treatment...
  30. ncbi request reprint Mitochondrial DNA mutation detection by electrospray mass spectrometry
    Yun Jiang
    Ibis Biosciences, A Division of Isis Pharmaceuticals, Carlsbad, CA, USA
    Clin Chem 53:195-203. 2007
    ..We describe the novel application of electrospray ionization Fourier transform ion cyclotron resonance mass spectrometry (ESI-FTICR MS) to the rapid and accurate identification of pathogenic mtDNA variants...
  31. ncbi request reprint Meeting report: mitochondrial DNA and cancer epidemiology
    Mukesh Verma
    Analytic Epidemiology Research Branch, National Cancer Institute, Rockville, Maryland 20852, USA
    Cancer Res 67:437-9. 2007
  32. ncbi request reprint Oxygen consumption by cultured human cells is impaired by a nucleoside analogue cocktail that inhibits mitochondrial DNA synthesis
    Caroline Petit
    Département Maladies Infectieuses, Institut Cochin, INSERM U567, CNRS UMR 8104, Universite Rene Descartes, Laboratoire Génétique des Virus, 22 rue Mechain, 75014 Paris, France
    Mitochondrion 5:154-61. 2005
    ..This model explains how NRTI-related respiratory deficits may lead to the presentation of opposing lipodystrophic syndromes in same patient...
  33. ncbi request reprint 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
    Paul L Gourley
    Sandia National Laboratories, Department 8331, MS 1413, Albuquerque, New Mexico 87185, USA
    J Biomed Opt 12:054003. 2007
    ..These features reflect a new state of stressed or diseased cells that we call a reactive biomolecular divergence (RBD) that reflects the vital interdependence of mitochondria and the nucleus...
  34. ncbi request reprint Quantitation of blood lymphocyte mitochondrial DNA for the monitoring of antiretroviral drug-induced mitochondrial DNA depletion
    Caroline Petit
    Laboratoire Génétique des Virus, Institut Cochin, INSERM U567, CNRS UMR 8104, Universite Paris, France
    J Acquir Immune Defic Syndr 33:461-9. 2003
    ..To investigate the impact of antiretroviral treatment on the mitochondrial DNA (mtDNA) content of peripheral blood mononuclear cells (PBMCs) from HIV-1-infected patients...