Professor, Medicine, UCSD School of Medicine
Medical Genetics
Dr. Robert K. Naviaux, MD
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Robert Naviaux is an expert in the field of Medical Genetics. He attended Indiana University School of Medicine. Indiana University School of Medicine is ranked 45/47 in Research/PrimaryCare. Robert K. Naviaux, MD is a published MD. He published 74 publications, including: 'Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome.'
Publications
- Regulation of lipid accumulation by AMK-activated kinase in high fat diet-induced kidney injury.
- Assessing Bioenergetic Compromise in Autism Spectrum Disorder With 31P Magnetic Resonance Spectroscopy: Preliminary Report.
- A model-driven quantitative metabolomics analysis of aerobic and anaerobic metabolism in E. coli K-12 MG1655 that is biochemically and thermodynamically consistent.
- Metabolic features of the cell danger response.
- AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder.
- Antipurinergic Therapy Corrects the Autism-Like Features in the Poly(IC) Mouse Model.
- Alpers-huttenlocher syndrome.
- Lesch-Nyhan Syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA.
- Mitochondrial and ion channel gene alterations in autism.
- Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria.
- Role of reactive oxygen species in hyperadrenergic hypertension: biochemical, physiological, and pharmacological evidence from targeted ablation of the chromogranin a ...
- The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.
- Polymerase gamma disease through the ages.
- The GAAS metagenomic tool and its estimations of viral and microbial average genome size in four major biomes.
- Monitoring phosphorylation of the pyruvate dehydrogenase complex.
- Retained features of embryonic metabolism in the adult MRL mouse.
- Determination of DNA mutation load in human tissues using denaturing HPLC-based heteroduplex analysis.
- Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
- Impact of nucleoside reverse transcriptase inhibitors on mitochondrial DNA and RNA in human skeletal muscle cells.
- Mitochondrial control of epigenetics.
- Pitfalls in the denaturing high-performance liquid chromatography analysis of mitochondrial DNA mutation.
- Reactive biomolecular divergence in genetically altered yeast cells and isolated mitochondria as measured by biocavity laser spectroscopy: rapid diagnostic method for ...
- ERRgamma directs and maintains the transition to oxidative metabolism in the postnatal heart.
- Quantitative mitochondrial DNA mutation analysis by denaturing HPLC.
- Mitochondrial DNA mutation detection by electrospray mass spectrometry.
- Meeting report: mitochondrial DNA and cancer epidemiology.
- Mitochondrial correlation microscopy and nanolaser spectroscopy - new tools for biophotonic detection of cancer in single cells.
- POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion.
- Chronic treatment of mitochondrial disease patients with dichloroacetate.
- POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
- The role of methionine in ethylmalonic encephalopathy with petechiae.
- Quantitation of blood lymphocyte mitochondrial DNA for the monitoring of antiretroviral drug-induced mitochondrial DNA depletion.
- Pyruvate carboxylase deficiency--insights from liver transplantation.
- The otolaryngological manifestations of mitochondrial disease and the risk of neurodegeneration with infection.
- Assay of mtDNA polymerase gamma from human tissues.
- Antipurinergic therapy corrects the autism-like features in the Fragile X (Fmr1 knockout) mouse model.
- Reversal of autism-like behaviors and metabolism in adult mice with single-dose antipurinergic therapy.
- Need for public debate about fertility treatments.
- Nerve conduction changes in patients with mitochondrial diseases treated with dichloroacetate.
- Medium-chain acyl coenzyme A dehydrogenase deficiency: occurrence in an infant and his father.
- Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria.
- Mitochondrial DNA disorders.
- Organismal effects of mitochondrial dysfunction.
- Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation.
- Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria.
- Sensitive assay for mitochondrial DNA polymerase gamma.
- Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome.
- 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 l...
- The pCL vector system: rapid production of helper-free, high-titer, recombinant retroviruses.
- Cytokine gene therapy with interleukin-2-transduced fibroblasts: effects of IL-2 dose on anti-tumor immunity.
- Micro competition enzyme linked immunosorbant assay for human apolipoprotein B.
- Comparison of the nucleotide sequences of diabetogenic and nondiabetogenic encephalomyocarditis virus.
- Microimmunoassay permits determination of concentrations in immunohistochemistry controls.
- Construction and characterization of two infectious molecular clones of encephalomyocarditis virus.
- Human gene therapy.
- Circulating human or canine factor IX from retrovirally transduced primary myoblasts and established myoblast cell lines grafted into murine skeletal muscle.
- Retroviral vectors for persistent expression in vivo.
- Gene therapy via primary myoblasts: long-term expression of factor IX protein following transplantation in vivo.
- Developing a systematic approach to the diagnosis and classification of mitochondrial disease.
- Oxygen consumption by cultured human cells is impaired by a nucleoside analogue cocktail that inhibits mitochondrial DNA synthesis.
- Statin myotoxicity is associated with changes in the cardiopulmonary function.
- Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome.
- POLG mutations in Alpers syndrome.
- Molecular diagnosis of Alpers syndrome.
- Ultrafast nanolaser flow device for detecting cancer in single cells.
- Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances.
- The in-depth evaluation of suspected mitochondrial disease.
- Naturally occurring mitochondrial DNA heteroplasmy in the MRL mouse.
- De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.
- POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.
- Alterations in skeletal muscle indicators of mitochondrial structure and biogenesis in patients with type 2 diabetes and heart failure: effects of epicatechin rich cocoa.
- Novel mutations in the human HPRT gene.
- Fibroblast immuno-diagnosis of cytochrome oxidase (COX) deficiency in mitochondrial disease.
Schools
Indiana University School of Medicine
UC Davis
Doctors Specialties
- Internal Medicine
- Medical Genetics
Accepted Insurances
Education
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University of California Davis -
Indiana University School of Medicine
Hospital
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Rady Children's Hospital - San Diego
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