Research Topics
Species | Robert K NaviauxSummaryAffiliation: University of California Country: USA Publications
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Publications
Antipurinergic therapy corrects the autism-like features in the poly(IC) mouse modelRobert 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...- 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... - Retained features of embryonic metabolism in the adult MRL mouseRobert 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... 
Sensitive assay for mitochondrial DNA polymerase gammaR 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...- POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletionRobert 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... - Mitochondrial DNA disordersR K Naviaux
Department of Medicine, University of California, San Diego 92103 8467, USA
Eur J Pediatr 159:S219-26. 2000..Organ-specific, non-ATP related functions of mitochondria are discussed as important considerations in evaluating the pathogenesis of mitochondrial disease... - Organismal effects of mitochondrial dysfunctionR 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... - Lesch-Nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family membersKhue 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... 
Pitfalls in the denaturing high-performance liquid chromatography analysis of mitochondrial DNA mutationKok Seong Lim
Department of Neurosciences, School of Medicine, University of California San Diego, La Jolla, California, USA
J Mol Diagn 10:102-8. 2008....- Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNAKhue 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.... - Molecular diagnosis of Alpers syndromeKhue 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... - Impact of nucleoside reverse transcriptase inhibitors on mitochondrial DNA and RNA in human skeletal muscle cellsAkihiko 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... - The in-depth evaluation of suspected mitochondrial diseaseRichard 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... - Chronic treatment of mitochondrial disease patients with dichloroacetateBruce A Barshop
Department of Pediatrics, University of California San Diego, La Jolla, CA 92093 0830, USA
Mol Genet Metab 83:138-49. 2004.... - Assay of mtDNA polymerase gamma from human tissuesRobert 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 - Novel mutations in the human HPRT geneKhue 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... - Monitoring phosphorylation of the pyruvate dehydrogenase complexMatthew J Rardin
Department of Pharmacology, University of California, San Diego, La Jolla, CA 92093, USA
Anal Biochem 389:157-64. 2009.... - POLG mutations in Alpers syndromeK 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... - Quantitative mitochondrial DNA mutation analysis by denaturing HPLCKok 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... - Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuriaKhue 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..46G>E), (IVS7-1G>A splice site mutation), and four novel MCCB (exon 11: c.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... - The otolaryngological manifestations of mitochondrial disease and the risk of neurodegeneration with infectionJoseph 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..Knowledge of these features can lead to more rapid diagnosis and improved medical and surgical management for this special group of patients with fundamental defects in bioenergy metabolism... - Pyruvate carboxylase deficiency--insights from liver transplantationWilliam 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... - Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalancesNeil 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... - Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndromeSherine 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... - POLG mutations associated with Alpers syndrome and mitochondrial DNA depletionRobert K Naviaux
Ann Neurol 58:491. 2005 - 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 diseasePaul 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... - Meeting report: mitochondrial DNA and cancer epidemiologyMukesh Verma
Analytic Epidemiology Research Branch, National Cancer Institute, Rockville, Maryland 20852, USA
Cancer Res 67:437-9. 2007 - Mitochondrial correlation microscopy and nanolaser spectroscopy - new tools for biophotonic detection of cancer in single cellsPaul 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... - Oxygen consumption by cultured human cells is impaired by a nucleoside analogue cocktail that inhibits mitochondrial DNA synthesisCaroline Petit
, Institut Cochin, INSERM U567, CNRS UMR 8104, , , , 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... - Quantitation of blood lymphocyte mitochondrial DNA for the monitoring of antiretroviral drug-induced mitochondrial DNA depletionCaroline Petit
, Institut Cochin, INSERM U567, CNRS UMR 8104, , France
J Acquir Immune Defic Syndr 33:461-9. 2003.... - Mitochondrial DNA mutation detection by electrospray mass spectrometryYun 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...