Vincent Procaccio

Summary

Affiliation: University of California
Country: USA

Publications

  1. pmc Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia
    Marla Gearing
    Department of Pathology and Laboratory Medicine, Emory University, Atlanta, GA, USA
    Ann Neurol 52:465-76. 2002
  2. doi Hereditary optic neuropathies share a common mitochondrial coupling defect
    Arnaud Chevrollier
    Institut National de la Sante et de la Recherche Medicale, U694, Départment de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France
    Ann Neurol 63:794-8. 2008
  3. pmc A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia
    Vincent Procaccio
    Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA 92697, USA
    Am J Hum Genet 78:947-60. 2006
  4. pmc Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations
    Vincent Procaccio
    Center for Molecular and Mitochondrial Medicine and Genetics MAMMAG, University of California, Irvine 92697 3940, USA
    Neurology 62:1899-901. 2004
  5. ncbi Detection of low levels of the mitochondrial tRNALeu(UUR) 3243A>G mutation in blood derived from patients with diabetes
    Vincent Procaccio
    Center for Molecular and Mitochondrial Medicine and Genetics, Department of Pediatrics, University of California, Irvine, California 92697, USA
    Mol Diagn Ther 10:381-9. 2006
  6. pmc A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease
    Prasanth Potluri
    Center for Molecular and Mitochondrial Medicine and Genetics MAMMAG, University of California, 2034 Hewitt Hall, Irvine, CA 92697 3940, USA
    Mol Genet Metab 96:189-95. 2009
  7. pmc Estrogen suppresses brain mitochondrial oxidative stress in female and male rats
    Ali Razmara
    Department of Pharmacology, School of Medicine, University of California, Irvine, CA 92697 4625, USA
    Brain Res 1176:71-81. 2007
  8. pmc Mitochondrial effects of estrogen are mediated by estrogen receptor alpha in brain endothelial cells
    Ali Razmara
    Department of Pharmacology, School of Medicine, University of California, Irvine, CA 92697 4625, USA
    J Pharmacol Exp Ther 325:782-90. 2008
  9. ncbi Adaptive selection of mitochondrial complex I subunits during primate radiation
    Dan Mishmar
    The Center for Molecular and Mitochondrial Medicine and Genetics, Hewitt Hall, room 2014, University of California, Irvine, Irvine, CA 92697 3940, USA
    Gene 378:11-8. 2006
  10. pmc MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences
    Marty C Brandon
    Department of Information and Computer Science, University of California, Irvine, Irvine, California 92697 3940, USA
    Hum Mutat 30:1-6. 2009

Collaborators

Detail Information

Publications30

  1. pmc Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia
    Marla Gearing
    Department of Pathology and Laboratory Medicine, Emory University, Atlanta, GA, USA
    Ann Neurol 52:465-76. 2002
    ..Thus, our findings may shed light on a novel neuropathological change associated with dystonia that may represent a new degenerative mechanism involving actin, a ubiquitous constituent of the cytoskeletal system...
  2. doi Hereditary optic neuropathies share a common mitochondrial coupling defect
    Arnaud Chevrollier
    Institut National de la Sante et de la Recherche Medicale, U694, Départment de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France
    Ann Neurol 63:794-8. 2008
    ..Interestingly, the energetic defect was significantly more pronounced in Leber's hereditary optic neuropathy and autosomal dominant optic atrophy patients with a more complex phenotype, the so-called plus phenotype...
  3. pmc A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia
    Vincent Procaccio
    Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA 92697, USA
    Am J Hum Genet 78:947-60. 2006
    ..These findings suggest that mutations in nonmuscle actins may be associated with a broad spectrum of developmental malformations and/or neurological abnormalities such as dystonia...
  4. pmc Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations
    Vincent Procaccio
    Center for Molecular and Mitochondrial Medicine and Genetics MAMMAG, University of California, Irvine 92697 3940, USA
    Neurology 62:1899-901. 2004
    ..Western blot analysis revealed a deficiency in the NDUFS8 polypeptide, but also reductions in other nuclear subunits of complex I, suggesting that this subunit is essential for either the assembly or stability of complex I...
  5. ncbi Detection of low levels of the mitochondrial tRNALeu(UUR) 3243A>G mutation in blood derived from patients with diabetes
    Vincent Procaccio
    Center for Molecular and Mitochondrial Medicine and Genetics, Department of Pediatrics, University of California, Irvine, California 92697, USA
    Mol Diagn Ther 10:381-9. 2006
    ..The proportions of mutant mitochondrial DNA (mtDNA) can vary between tissues and are usually significantly higher in muscle than in blood, but muscle biopsies from patients with diabetes are rarely available...
  6. pmc A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease
    Prasanth Potluri
    Center for Molecular and Mitochondrial Medicine and Genetics MAMMAG, University of California, 2034 Hewitt Hall, Irvine, CA 92697 3940, USA
    Mol Genet Metab 96:189-95. 2009
    ..Therefore, we hypothesize that the novel G32R mutation in NDUFA1 is causing complex I deficiency either by itself or in synergy with additional mtDNA variants...
  7. pmc Estrogen suppresses brain mitochondrial oxidative stress in female and male rats
    Ali Razmara
    Department of Pharmacology, School of Medicine, University of California, Irvine, CA 92697 4625, USA
    Brain Res 1176:71-81. 2007
    ..Thus, in contrast to the lack of effect of androgens on mitochondrial ROS, estrogen suppression of mitochondrial oxidative stress may influence neurological disease incidence and progression in both females and males...
  8. pmc Mitochondrial effects of estrogen are mediated by estrogen receptor alpha in brain endothelial cells
    Ali Razmara
    Department of Pharmacology, School of Medicine, University of California, Irvine, CA 92697 4625, USA
    J Pharmacol Exp Ther 325:782-90. 2008
    ..Mitochondrial protective effects of estrogen in cerebral endothelium may contribute to sex differences in the occurrence of stroke and other age-related neurodegenerative diseases...
  9. ncbi Adaptive selection of mitochondrial complex I subunits during primate radiation
    Dan Mishmar
    The Center for Molecular and Mitochondrial Medicine and Genetics, Hewitt Hall, room 2014, University of California, Irvine, Irvine, CA 92697 3940, USA
    Gene 378:11-8. 2006
    ..Changes in the nDNA NDUFC2 cysteine 39 were found to correlate with those in the mtDNA ND5 cysteine 330. Therefore, adaptive selection has influenced some nDNA complex I genes and nDNA and mtDNA complex I genes may have co-evolved...
  10. pmc MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences
    Marty C Brandon
    Department of Information and Computer Science, University of California, Irvine, Irvine, California 92697 3940, USA
    Hum Mutat 30:1-6. 2009
    ..This system should be beneficial for mtDNA analyses of biomedical physicians and investigators, population biologists and forensic scientists. MITOMASTER can be accessed at http://mammag.web.uci.edu/twiki/bin/view/Mitomaster...
  11. pmc Multiplex analysis of mitochondrial DNA pathogenic and polymorphic sequence variants
    Jason C Poole
    Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA 92697, USA
    Biol Chem 391:1115-30. 2010
    ..This system should permit rapid and inexpensive genotyping of pathogenic and lineage-specific mtDNA SNVs by clinical and research laboratories...
  12. pmc An enhanced MITOMAP with a global mtDNA mutational phylogeny
    Eduardo Ruiz-Pesini
    Center for Molecular and Mitochondrial Medicine and Genetics MAMMAG and Departments of Biological Chemistry, Ecology and Evolutionary Biology, and Pediatrics, University of California, Irvine, CA 92697 3900, USA
    Nucleic Acids Res 35:D823-8. 2007
    ..These additions position MITOMAP for the implementation of our automated mtDNA sequence analysis system, Mitomaster...
  13. pmc mtDNA lineage analysis of mouse L-cell lines reveals the accumulation of multiple mtDNA mutants and intermolecular recombination
    Weiwei Fan
    Center for Molecular and Mitochondrial Medicine and Genetics, University of California at Irvine, 92697, USA
    Genes Dev 26:384-94. 2012
    ..Therefore, deleterious mtDNA mutations that increase ROS production can provide a proliferative advantage to cancer or stem cells, and optimal combinations of mutant loci can be generated through recombination...
  14. pmc Mitochondrial energetics and therapeutics
    Douglas C Wallace
    Center for Molecular and Mitochondrial Medicine and Genetics and Departments of Biological Chemistry, Ecology and Evolutionary Biology, and Pediatrics, University of California at Irvine, Irvine, California 92697 3940, USA
    Annu Rev Pathol 5:297-348. 2010
    ....
  15. pmc Role of SUV3 helicase in maintaining mitochondrial homeostasis in human cells
    Lily Khidr
    Department of Biological Chemistry, School of Medicine, University of California, Irvine, California 92697, USA
    J Biol Chem 283:27064-73. 2008
    ..Thus, our results suggest that SUV3 is essential for maintaining proper mitochondrial function, likely through a conserved role in mitochondrial RNA regulation...
  16. pmc Increased prevalence of val(66)met BDNF genotype among subjects with cervical dystonia
    Steven C Cramer
    Department of Neurology, University of California, Irvine, CA, USA
    Neurosci Lett 468:42-5. 2010
    ..This was not true of ApoE genotype, which was similarly distributed across subject groups. The current findings suggest that the BDNF val(66)met polymorphism might play a role in the pathogenesis of cervical dystonia in some subjects...
  17. ncbi Effects of purifying and adaptive selection on regional variation in human mtDNA
    Eduardo Ruiz-Pesini
    Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA 92697 3940, USA
    Science 303:223-6. 2004
    ..Thus, specific mtDNA replacement mutations permitted our ancestors to adapt to more northern climates, and these same variants are influencing our health today...
  18. pmc Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome
    Mariella Simon
    Department of Developmental and Cellular Biology, School of Biological Sciences, University of California, Irvine, Irvine, California, United States of America CHOC Childrens, Division of Metabolics, Orange, California, United States of America
    PLoS Genet 11:e1005097. 2015
    ..Val213Phe mutant protein in these fibroblasts cannot complement the OCR and ETC defects. Our findings establish lesions in NARS2 as a new cause for nonsyndromic hearing loss and Leigh syndrome. ..
  19. pmc Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome
    Hailing Su
    Department of Pediatrics, Division of Genetics and Metabolism, University of California, Irvine, CA 92697, USA
    Neurosci Lett 487:129-33. 2011
    ..Therefore, mitochondrial dysfunction may contribute to the pathophysiology of Angelman syndrome...
  20. pmc BDNF val66met polymorphism influences motor system function in the human brain
    Stephanie A McHughen
    Department of Anatomy and Neurobiology, University of California, Irvine, CA 92697, USA
    Cereb Cortex 20:1254-62. 2010
    ..The broader implications of these findings are considered...
  21. ncbi Estrogen increases mitochondrial efficiency and reduces oxidative stress in cerebral blood vessels
    Chris Stirone
    Department of Pharmacology, University of California Irvine, CA 92697, USA
    Mol Pharmacol 68:959-65. 2005
    ..In summary, these novel findings suggest that vascular protection by E(2) is mediated, in part, by modulation of mitochondrial function, resulting in greater energy-producing capacity and decreased reactive oxygen species production...
  22. ncbi Estrogen and mitochondria: a new paradigm for vascular protection?
    Sue Piper Duckles
    Department of Pharmacology, University of California, Irvine, CA, USA
    Mol Interv 6:26-35. 2006
    ..Estrogen-mediated mitochondrial efficiency may also be a contributing factor to the longer lifespan of women...
  23. ncbi Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip
    Marianne Leveque
    INSERM U587, Pasteur Institute, Paris, France
    Eur J Hum Genet 15:1145-55. 2007
    ..These results indicate that the new MitoChip platform is a rapid and valuable tool for identification of new mtDNA mutations in deafness...
  24. ncbi A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia
    Emmanuelle Sarzi
    INSERM U781, Department of Genetics, Hopital Necker Enfants Malades, Paris, France
    Am J Med Genet A 143:33-41. 2007
    ..These results show that the 10197G>A mutation in the mitochondrial ND3 gene should be considered as a common mtDNA mutation responsible for LS and dystonia...
  25. ncbi Surveyor Nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects
    Sylvie Bannwarth
    Department of Medical Genetics, Hopital Archet 2, CHU Nice, France
    Hum Mutat 25:575-82. 2005
    ....
  26. ncbi Coordinated decrease of the expression of the mitochondrial and nuclear complex I genes in a mitochondrial mutant of Drosophila
    Geraldine Farge
    Equipe Genome Mitochondrial, UMR CNRS 6547, Universite Blaise Pascal, Clermont II, Aubiere, France
    J Bioenerg Biomembr 36:203-10. 2004
    ..These results suggest a coordination of the expression of the mitochondrial and nuclear genes coding for mitochondrial proteins...
  27. ncbi Friedreich ataxia: the oxidative stress paradox
    Hervé Seznec
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM Universite Louis Pasteur, 67404 Illkirch Cedex, CU de Strasbourg, France
    Hum Mol Genet 14:463-74. 2005
    ....
  28. ncbi Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay
    Mourad Naimi
    Department of Medical Genetics, Archet 2 Hospital, CHU Nice, France
    Eur J Hum Genet 14:917-22. 2006
    ....
  29. ncbi BDNF val66met polymorphism is associated with modified experience-dependent plasticity in human motor cortex
    Jeffrey A Kleim
    Brain Research Rehabilitation Center, Malcom Randall VA Hospital, 1601 SW Archer Road, Gainesville, Florida 32608, USA
    Nat Neurosci 9:735-7. 2006
    ..The results suggest that BDNF is involved in mediating experience-dependent plasticity of human motor cortex...
  30. ncbi Rapid identification of unknown heteroplasmic mutations across the entire human mitochondrial genome with mismatch-specific Surveyor Nuclease
    Sylvie Bannwarth
    Department of Medical Genetics, Archet 2 Hospital, CHU Nice, France
    Nat Protoc 1:2037-47. 2006
    ..It represents an important diagnostic approach for mitochondrial diseases that can be routinely used in molecular diagnostic laboratories...