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Vincent Procaccio

Research Profile

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Konstantina Fragaki; Catherine Gire; Raymond Mengual; Samira Ait-El-Mkadem; Marie Bénéteau; Laurent Bonesso; Annabelle Chaussenot; Valérie Desquiret-Dumas; Vincent Procaccio; Jean-Ehrland Ricci; Agnès Rötig; Véronique Paquis-Flucklinger
Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.
K Tarhouni; Bertrand Toutain; F Lenfant; Laurent Loufrani; F Pinaud; Vincent Procaccio; J F Arnal; A Ayer; Christophe Baufreton; M L Freidja; L Grimaud; Anne-Laure Guihot; B Henrion; Daniel Henrion
Key role of estrogens and endothelial estrogen receptor α in blood flow-mediated remodeling of resistance arteries.
Joanna L Elson; Qing-Peng Kong; Marie T Lott; Robert D S Pitceathly; Vincent Procaccio; Antonio Salas; Mary G Sweeney; Robert W Taylor; David R Thorburn; Francois H van der Westhuizen; Douglas C Wallace; John W Yarham; Robert McFarland
Toward a mtDNA locus-specific mutation database using the LOVD platform.

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All Publications

2013: Konstantina Fragaki; Catherine Gire; Raymond Mengual; Samira Ait-El-Mkadem; Marie Bénéteau; Laurent Bonesso; Annabelle Chaussenot; Valérie Desquiret-Dumas; Vincent Procaccio; Jean-Ehrland Ricci; Agnès Rötig; Véronique Paquis-Flucklinger
Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.
European journal of human genetics : EJHG 2013;21(5):528-34.
2013: K Tarhouni; Bertrand Toutain; F Lenfant; Laurent Loufrani; F Pinaud; Vincent Procaccio; J F Arnal; A Ayer; Christophe Baufreton; M L Freidja; L Grimaud; Anne-Laure Guihot; B Henrion; Daniel Henrion
Key role of estrogens and endothelial estrogen receptor α in blood flow-mediated remodeling of resistance arteries.
Arteriosclerosis, thrombosis, and vascular biology 2013;33(3):605-11.
2012: Joanna L Elson; Qing-Peng Kong; Marie T Lott; Robert D S Pitceathly; Vincent Procaccio; Antonio Salas; Mary G Sweeney; Robert W Taylor; David R Thorburn; Francois H van der Westhuizen; Douglas C Wallace; John W Yarham; Robert McFarland
Toward a mtDNA locus-specific mutation database using the LOVD platform.
Human mutation 2012;33(9):1352-8.
2012: Arnaud Chevrollier; Valérie Desquiret-Dumas; Marc FERRE; Naïg Gueguen; Vincent Procaccio; Jennifer Alban; Patrizia Amati-Bonneau; Dominique Bonneau; Julien Cassereau; Pascal Reynier
Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function.
The international journal of biochemistry & cell biology 2012;44(6):980-8.
2012: Valerie Desquiret-Dumas; Naig Gueguen; Saege Hancock; Daniel Henrion; Patrizia Amati-Bonneau; Magalie Barth; Dominique Bonneau; Arnaud Chevrollier; Pascal Reynier; Douglas C Wallace; Vincent Procaccio
Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS.
Biochimica et biophysica acta 2012;1822(6):1019-29.
2012: Lydia W S Finley; Zoltan Arany; Kevin Bullock; Clary B Clish; Valérie Desquiret-Dumas; Jaewon Lee; Vincent Procaccio; Glenn C Rowe; Amanda Souza; Marcia Haigis
Skeletal muscle transcriptional coactivator PGC-1α mediates mitochondrial, but not metabolic, changes during calorie restriction.
Proceedings of the National Academy of Sciences of the United States of America 2012;109(8):2931-6.
2012: Weiwei Fan; Chun Shi Lin; Prasanth Potluri; Vincent Procaccio; Douglas C Wallace
mtDNA lineage analysis of mouse L-cell lines reveals the accumulation of multiple mtDNA mutants and intermolecular recombination.
Genes & development 2012;26(4):384-94.
2012: Alessandro Achilli; Patrizia Amati-Bonneau; Piero Barboni; Dominique Bonneau; Anna Maria De Negri; Helene Dollfus; Ghislaine Ducos; Sascha Fauser; Baharak Hooshiar Kashani; Luisa Iommarini; Chiara La Morgia; Beate Leo-Kottler; Rocco Liguori; Antoine Moulignier; Anna Olivieri; Christophe Orssaud; Maria Pala; Fabio Pizza; Vincent Procaccio; Pascal Reynier; Federico Sadun; Antonio Torroni; Maria Lucia Valentino; Bernd Wissinger; Massimo Zeviani; Valerio Carelli
Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy.
PloS one 2012;7(8):e42242.
2012: Guy Lenaers; Vincent Procaccio; Pascal Reynier; Patrizia Amati-Bonneau; Dominique Bonneau; Cécile Delettre; Christian Hamel; Dan Milea
Dominant optic atrophy.
Orphanet journal of rare diseases 2012;7():46.
2012: Cécile Rouzier; Annie Verschueren; Jean-François Pellissier; Jean Pouget; Vincent Procaccio; Sylvie Bannwarth; Nathalie Bonello-Palot; Aline Cano; Brigitte Chabrol; Annabelle Chaussenot; Arnaud Chevrollier; Konstantina Fragaki; Véronique Paquis-Flucklinger
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.
Brain : a journal of neurology 2012;135(Pt 1):23-34.
2011: Mohamed Lamine Freidja; Antoine Caillon; Valérie Desquiret; Diane Lambert; Laurent Loufrani; Vincent Procaccio; Bertrand Toutain; Daniel Henrion
Heme oxygenase 1 is differentially involved in blood flow-dependent arterial remodeling: role of inflammation, oxidative stress, and nitric oxide.
Hypertension 2011;58(2):225-31.
2011: Virginie Guillet; Naïg Gueguen; Romain Cartoni; Arnaud Chevrollier; Valérie Desquiret; Claire Angebault; Patrizia Amati-Bonneau; Vincent Procaccio; Dominique Bonneau; Jean-Claude Martinou; Pascal Reynier
Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2011;25(5):1618-27.
2011: J Cassereau; C Casasnovas; Naïg Gueguen; Marie-Claire Malinge; V Guillet; Pascal Reynier; Dominique Bonneau; Patrizia Amati-Bonneau; I Banchs; V Volpini; Vincent Procaccio; Arnaud Chevrollier
Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT.
Neurology 2011;76(17):1524-6.
2011: Hailing Su; Weiwei Fan; Pinar E Coskun; Jouni Vesa; June-Anne Gold; Yong-Hui Jiang; Prasanth Potluri; Vincent Procaccio; Allan Acab; John H Weiss; Douglas C Wallace; Virginia E Kimonis
Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome.
Neuroscience letters 2011;487(2):129-33.
2011: Julien Cassereau; Arnaud Chevrollier; Vincent Procaccio; Pascal Reynier; Christophe Verny; Dominique Bonneau; Marc FERRE
A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.
Orphanet journal of rare diseases 2011;6():87.
2011: Claire Angebault; Dominique Bonneau; Julien Cassereau; Arnaud Chevrollier; Valérie Desquiret-Dumas; Marc Ferre; Naïg Gueguen; Virginie Guillet; Dan Milea; Vincent Procaccio; Pascal Reynier; Christophe Verny; Patrizia Amati-Bonneau; Dominique Loiseau
Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration.
BMC research notes 2011;4():557.
2011: Julien Cassereau; Arnaud Chevrollier; Naïg Gueguen; Valérie Desquiret; Christophe Verny; Guillaume Nicolas; Frédéric Dubas; Patrizia Amati-Bonneau; Pascal Reynier; Dominique Bonneau; Vincent Procaccio
Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.
Experimental neurology 2011;227(1):31-41.
2011: Christophe Verny; Naig Guegen; Valerie Desquiret; Arnaud Chevrollier; Adriana Prundean; Frédéric Dubas; Julien Cassereau; Marc Ferre; Patrizia Amati-Bonneau; Dominique Bonneau; Pascal Reynier; Vincent Procaccio
Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation.
Mitochondrion 2011;11(1):70-5.
2010: C Scherer; Vincent Procaccio; M Ferre; V Guillet; Pascal Reynier; Patrizia Amati-Bonneau; Frédéric Dubas; Dominique Bonneau; Christophe Verny
[Hereditary optic atrophies].
Revue neurologique 2010;166(12):959-65.
2010: Poole Jason; Vincent Procaccio; Martin C Brandon; Greg Merrick; Douglas C Wallace
Multiplex analysis of mitochondrial DNA pathogenic and polymorphic sequence variants.
Biological chemistry 2010;391(10):1115-30.
2010: Stephanie A McHughen; Paul F Rodriguez; Jeffrey A Kleim; Erin D Kleim; Laura Marchal Crespo; Vincent Procaccio; Steven C Cramer
BDNF val66met polymorphism influences motor system function in the human brain.
Cerebral cortex (New York, N.Y. : 1991) 2010;20(5):1254-62.
2010: Douglas C Wallace; Weiwei Fan; Vincent Procaccio
Mitochondrial energetics and therapeutics.
Annual review of pathology 2010;5():297-348.
2010: Steven C Cramer; Ajay Sampat; Maureen Haske-Palomino; Shawn Nguyen; Vincent Procaccio; Neal Hermanowicz
Increased prevalence of val(66)met BDNF genotype among subjects with cervical dystonia.
Neuroscience letters 2010;468(1):42-5.
2009: Konstantina Fragaki; Vincent Procaccio; Sylvie Bannwarth; Valérie Serre; Sean O'Hearn; Prasanth Potluri; Gaelle Augé; Florence Casagrande; Céline Caruba; Jean Claude Lambert; Véronique Paquis-Flucklinger
A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene.
Mitochondrion 2009;9(5):346-52.
2009: Prasanth Potluri; Antonio Davila; Eduardo Ruiz-Pesini; Dan Mishmar; Sean O'Hearn; Saege Hancock; Mariella Simon; Immo E Scheffler; Douglas C Wallace; Vincent Procaccio
A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease.
Molecular genetics and metabolism 2009;96(4):189-95.
2009: Sylvie Bannwarth; Vincent Procaccio; Véronique Paquis-Flucklinger
Rapid identification of unknown heteroplasmic mitochondrial DNA mutations with mismatch-specific surveyor nuclease.
Methods in molecular biology (Clifton, N.J.) 2009;554():301-13.
2009: Martin Brandon; Eduardo Ruiz-Pesini; Dan Mishmar; Vincent Procaccio; Marie T Lott; Kevin Cuong Nguyen; Syawal Spolim; Upen Patil; Pierre Baldi; Douglas C Wallace
MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences.
Human mutation 2009;30(1):1-6.
2008: Lily Khidr; Guikai Wu; Antonio Davila; Vincent Procaccio; Douglas C Wallace; Wen-Hwa Lee
Role of SUV3 helicase in maintaining mitochondrial homeostasis in human cells.
The Journal of biological chemistry 2008;283(40):27064-73.
2008: Arnaud Chevrollier; Virginie Guillet; Dominique Loiseau; Naïg Gueguen; Marie-Anne Pou de Crescenzo; Christophe Verny; Marc Ferre; Hélène Dollfus; Sylvie Odent; Dan Milea; Cyril Goizet; Patrizia Amati-Bonneau; Vincent Procaccio; Dominique Bonneau; Pascal Reynier
Hereditary optic neuropathies share a common mitochondrial coupling defect.
Annals of neurology 2008;63(6):794-8.
2008: Ali Razmara; Lorraine Sunday; Chris Stirone; Xiao Bo Wang; Diana N Krause; Sue P Duckles; Vincent Procaccio
Mitochondrial effects of estrogen are mediated by estrogen receptor alpha in brain endothelial cells.
The Journal of pharmacology and experimental therapeutics 2008;325(3):782-90.
2008: Karen Cornille; Dan Milea; Patrizia Amati-Bonneau; Vincent Procaccio; Lydie Zazoun; Virginie Guillet; Ghizlane El Achouri; Cécile Delettre; Naïg Gueguen; Dominique Loiseau; Agnès Muller; Marc FERRE; Arnaud Chevrollier; Douglas C Wallace; Dominique Bonneau; Christian Hamel; Pascal Reynier; Guy Lenaers
Reversible optic neuropathy with OPA1 exon 5b mutation.
Annals of neurology 2008;63(5):667-71.
2008: Sylvie Bannwarth; Vincent Procaccio; C Rouzier; K Fragaki; J Poole; Brigitte Chabrol; Claude Desnuelle; Jean Pouget; J P Azulay; S Attarian; J F Pellissier; J J Gargus; J E Abdenur; T Mozaffar; P Calvas; P Labauge; M Pages; Douglas C Wallace; J C Lambert; Véronique Paquis-Flucklinger
Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.
Mitochondrion 2008;8(2):136-45.
2007: Marianne Lévêque; Sandrine Marlin; Laurence Jonard; Vincent Procaccio; Pascal Reynier; Patrizia Amati-Bonneau; Sylvain Baulande; Denis Pierron; Didier Lacombe; Françoise Duriez; Christine Francannet; Thierry Mom; Hubert Journel; Hélène Catros; Valérie Drouin-Garraud; Marie-Françoise Obstoy; Hélène Dollfus; Marie-Madeleine Eliot; Laurence Faivre; Christian Duvillard; Rémy Couderc; Erea-Noel Garabedian; Christine Petit; Delphine Feldmann; Françoise Denoyelle
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.
European journal of human genetics : EJHG 2007;15(11):1145-55.
2007: Ali Razmara; Sue P Duckles; Diana N Krause; Vincent Procaccio
Estrogen suppresses brain mitochondrial oxidative stress in female and male rats.
Brain research 2007;1176():71-81.
2007: Aline Cano; C Rouzier; Sophie Monnot; Brigitte Chabrol; J Conrath; P Lecomte; B Delobel; P Boileau; R Valero; Vincent Procaccio; Véronique Paquis-Flucklinger; Bernard Vialettes
Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome.
American journal of medical genetics. Part A 2007;143A(14):1605-12.
2007: Eduardo Ruiz-Pesini; Marie T Lott; Vincent Procaccio; Poole Jason; Martin Brandon; Dan Mishmar; Christina Yi; James Kreuziger; Pierre Baldi; Douglas C Wallace
An enhanced MITOMAP with a global mtDNA mutational phylogeny.
Nucleic acids research 2007;35(Database issue):D823-8.
2007: Emmanuelle Sarzi; Michael D Brown; Sophie Lebon; Dominique Chretien; Arnold Munnich; Agnès Rotig; Vincent Procaccio
A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.
American journal of medical genetics. Part A 2007;143(1):33-41.
2006: Dan Mishmar; Eduardo Ruiz-Pesini; Mariana Mondragon Palomino; Vincent Procaccio; Brandon S Gaut; Douglas C Wallace
Adaptive selection of mitochondrial complex I subunits during primate radiation.
Gene 2006;378():11-8.
2006: Mourad Naïmi; Sylvie Bannwarth; Vincent Procaccio; Jean Pouget; Claude Desnuelle; Jean-François Pellissier; Agnès Rötig; Arnold Munnich; Patrick Calvas; Christian Richelme; Philippe Jonveaux; Giovanni Castelnovo; Mariella Simon; Melvin Simon; Michel Clanet; Douglas C Wallace; Véronique Paquis-Flucklinger
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
European journal of human genetics : EJHG 2006;14(8):917-22.
2006: Vincent Procaccio; Gloria Salazar; Shoichiro Ono; Melanie L Styers; Marla Gearing; Antonio Davila; Richard Jimenez; Jorge L Juncos; Claire-Anne Gutekunst; Germana Meroni; Bianca Fontanella; Estelle Sontag; Jean-Marie Sontag; Victor Faundez; Bruce H Wainer
A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.
American journal of human genetics 2006;78(6):947-60.
2006: Jeffrey A Kleim; Sheila Chan; Erin Pringle; Kellan Schallert; Vincent Procaccio; Richard Jimenez; Steven C Cramer
BDNF val66met polymorphism is associated with modified experience-dependent plasticity in human motor cortex.
Nature neuroscience 2006;9(6):735-7.
2006: Sue P Duckles; Diana N Krause; Chris Stirone; Vincent Procaccio
Estrogen and mitochondria: a new paradigm for vascular protection?
Molecular interventions 2006;6(1):26-35.
2006: Sylvie Bannwarth; Vincent Procaccio; Véronique Paquis-Flucklinger
Rapid identification of unknown heteroplasmic mutations across the entire human mitochondrial genome with mismatch-specific Surveyor Nuclease.
Nature protocols 2006;1(4):2037-47.
2006: Vincent Procaccio; Nicolas Neckelmann; Véronique Paquis-Flucklinger; Sylvie Bannwarth; Richard Jimenez; Antonio Davila; Poole Jason; Douglas C Wallace
Detection of low levels of the mitochondrial tRNALeu(UUR) 3243A>G mutation in blood derived from patients with diabetes.
Molecular diagnosis & therapy 2006;10(6):381-9.
2005: Chris Stirone; Sue P Duckles; Diana N Krause; Vincent Procaccio
Estrogen increases mitochondrial efficiency and reduces oxidative stress in cerebral blood vessels.
Molecular pharmacology 2005;68(4):959-65.
2005: Sylvie Bannwarth; Vincent Procaccio; Véronique Paquis-Flucklinger
Surveyor Nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects.
Human mutation 2005;25(6):575-82.
2005: Hervé SEZNEC; Delphine Simon; Cécile Bouton; Laurence Reutenauer; Ariane Hertzog; Pawel Golik; Vincent Procaccio; Manisha Patel; Jean-Claude Drapier; Michel Koenig; Hélène Puccio
Friedreich ataxia: the oxidative stress paradox.
Human molecular genetics 2005;14(4):463-74.
2004: Vincent Procaccio; Douglas C Wallace
Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations.
Neurology 2004;62(10):1899-901.
2004: Géraldine Farge; Sylvie Touraille; Philippe Lachaume; Roger Debise; Vincent Procaccio; Serge Alziari
Coordinated decrease of the expression of the mitochondrial and nuclear complex I genes in a mitochondrial mutant of Drosophila.
Journal of bioenergetics and biomembranes 2004;36(2):203-10.
2004: Eduardo Ruiz-Pesini; Dan Mishmar; Martin Brandon; Vincent Procaccio; Douglas C Wallace
Effects of purifying and adaptive selection on regional variation in human mtDNA.
Science (New York, N.Y.) 2004;303(5655):223-6.
2002: Marla Gearing; Jorge L Juncos; Vincent Procaccio; Claire-Anne Gutekunst; Elaine M Marino-Rodriguez; Kymberly A Gyure; Shoichiro Ono; Robert Santoianni; Nicolas S Krawiecki; Douglas C Wallace; Bruce H Wainer
Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia.
Annals of neurology 2002;52(4):465-76.