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Genomes and Genes | Vincent ProcaccioSummaryAffiliation: University of California Country: USA Publications
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Publications
Aggregation of actin and cofilin in identical twins with juvenile-onset dystoniaMarla 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...- Hereditary optic neuropathies share a common mitochondrial coupling defectArnaud 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... - A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystoniaVincent 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... - Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutationsVincent 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... - Detection of low levels of the mitochondrial tRNALeu(UUR) 3243A>G mutation in blood derived from patients with diabetesVincent 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... - A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative diseasePrasanth 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... - Estrogen suppresses brain mitochondrial oxidative stress in female and male ratsAli 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... - Adaptive selection of mitochondrial complex I subunits during primate radiationDan 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... - Mitochondrial effects of estrogen are mediated by estrogen receptor alpha in brain endothelial cellsAli 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... - MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequencesMarty 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... - Multiplex analysis of mitochondrial DNA pathogenic and polymorphic sequence variantsJason 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... - mtDNA lineage analysis of mouse L-cell lines reveals the accumulation of multiple mtDNA mutants and intermolecular recombinationWeiwei 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... - An enhanced MITOMAP with a global mtDNA mutational phylogenyEduardo 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... - Mitochondrial energetics and therapeuticsDouglas 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.... - Role of SUV3 helicase in maintaining mitochondrial homeostasis in human cellsLily 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... - Increased prevalence of val(66)met BDNF genotype among subjects with cervical dystoniaSteven 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... - Effects of purifying and adaptive selection on regional variation in human mtDNAEduardo 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... - Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndromeHailing 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... - BDNF val66met polymorphism influences motor system function in the human brainStephanie 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... - 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... - Estrogen increases mitochondrial efficiency and reduces oxidative stress in cerebral blood vesselsChris 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... - A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystoniaEmmanuelle 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... - Surveyor Nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defectsSylvie Bannwarth
Department of Medical Genetics, Hopital Archet 2, CHU Nice, France
Hum Mutat 25:575-82. 2005.... - Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chipMarianne 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... - Friedreich ataxia: the oxidative stress paradoxHervé 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.... - Rapid identification of unknown heteroplasmic mutations across the entire human mitochondrial genome with mismatch-specific Surveyor NucleaseSylvie 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... - Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assayMourad Naimi
Department of Medical Genetics, Archet 2 Hospital, CHU Nice, France
Eur J Hum Genet 14:917-22. 2006.... - BDNF val66met polymorphism is associated with modified experience-dependent plasticity in human motor cortexJeffrey 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...