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Papers authored by Procaccio V

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OPA1-associated disorders: phenotypes and pathophysiology.

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Amati-Bonneau P, Milea D, Bonneau D, Chevrollier A, Ferré M, Guillet V, Gueguen N, Loiseau D, de Crescenzo MA, Verny C, Procaccio V, Lenaers G, and Reynier P

The international journal of biochemistry & cell biology 41(10):1855-65, 2009 Oct - Who cited this? | PubMed ID: 19389487 | Fulltext

A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene.

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Fragaki K, Procaccio V, Bannwarth S, Serre V, O'Hearn S, Potluri P, Augé G, Casagrande F, Caruba C, Lambert JC, and Paquis-Flucklinger V

Mitochondrion 9(5):346-52, 2009 Sep - Who cited this? | PubMed ID: 19563916 | Fulltext

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

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Ferré M, Bonneau D, Milea D, Chevrollier A, Verny C, Dollfus H, Ayuso C, Defoort S, Vignal C, Zanlonghi X, Charlin JF, Kaplan J, Odent S, Hamel CP, Procaccio V, Reynier P,

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Human mutation 30(7):E692-705, 2009 Jul - Who cited this? | PubMed ID: 19319978 | Fulltext

A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease.

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Potluri P, Davila A, Ruiz-Pesini E, Mishmar D, O'Hearn S, Hancock S, Simon M, Scheffler IE, Wallace DC, and Procaccio V

Molecular genetics and metabolism 96(4):189-95, 2009 Apr - Who cited this? | PubMed ID: 19185523 | Fulltext

Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K).

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Cassereau J, Chevrollier A, Gueguen N, Malinge MC, Letournel F, Nicolas G, Richard L, Ferre M, Verny C, Dubas F, Procaccio V, Amati-Bonneau P, Bonneau D, and Reynier P

Neurogenetics 10(2):145-50, 2009 Apr - Who cited this? | PubMed ID: 19089472 | Fulltext

Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect.

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Nochez Y, Arsene S, Gueguen N, Chevrollier A, Ferré M, Guillet V, Desquiret V, Toutain A, Bonneau D, Procaccio V, Amati-Bonneau P, Pisella PJ, and Reynier P

Molecular vision 15:598-608, 2009 - Who cited this? | PubMed ID: 19325939 | Fulltext

Rapid identification of unknown heteroplasmic mitochondrial DNA mutations with mismatch-specific surveyor nuclease.

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Bannwarth S, Procaccio V, and Paquis-Flucklinger V

Methods in molecular biology (Clifton, N.J.) 554:301-13, 2009 - Who cited this? | PubMed ID: 19513682 | Fulltext

Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis.

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Verny C, Amati-Bonneau P, Letournel F, Person B, Dib N, Malinge MC, Slama A, Le Maréchal C, Ferec C, Procaccio V, Reynier P, and Bonneau D

Diabetes & metabolism 34(6):620-6, 2008 Dec - Who cited this? | PubMed ID: 18955007 | Fulltext

Role of SUV3 helicase in maintaining mitochondrial homeostasis in human cells.

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Khidr L, Wu G, Davila A, Procaccio V, Wallace D, and Lee WH

The Journal of biological chemistry, 2008 Aug 4 - Who cited this? | PubMed ID: 18678873 | Fulltext

MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences.

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Brandon MC, Ruiz-Pesini E, Mishmar D, Procaccio V, Lott MT, Nguyen KC, Spolim S, Patil U, Baldi P, and Wallace DC

Human mutation, 2008 Jun 19 - Who cited this? | PubMed ID: 18566966 | Fulltext

Mitochondrial effects of estrogen are mediated by estrogen receptor alpha in brain endothelial cells.

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Razmara A, Sunday L, Stirone C, Wang XB, Krause DN, Duckles SP, and Procaccio V

The Journal of pharmacology and experimental therapeutics 325(3):782, 2008 Jun - Who cited this? | PubMed ID: 18354059 | Fulltext

Hereditary optic neuropathies share a common mitochondrial coupling defect.

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Chevrollier A, Guillet V, Loiseau D, Gueguen N, de Crescenzo MA, Verny C, Eng MF, Dollfus H, Odent S, Milea D, Goizet C, Amati-Bonneau P, Procaccio V, Bonneau D, and Reynier P

Annals of neurology 63(6):794-8, 2008 Jun - Who cited this? | PubMed ID: 18496845 | Fulltext

Reversible optic neuropathy with OPA1 exon 5b mutation.

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Cornille K, Milea D, Amati-Bonneau P, Procaccio V, Zazoun L, Guillet V, El Achouri G, Delettre C, Gueguen N, Loiseau D, Muller A, Ferré M, Chevrollier A, Wallace DC, Bonneau D, Hamel C,

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Annals of neurology 63(5):667-71, 2008 May - Who cited this? | PubMed ID: 18360822 | Fulltext

Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.

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Bannwarth S, Procaccio V, Rouzier C, Fragaki K, Poole J, Chabrol B, Desnuelle C, Pouget J, Azulay JP, Attarian S, Pellissier JF, Gargus JJ, Abdenur JE, Mozaffar T, Calvas P, Labauge P,

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Mitochondrion 8(2):136, 2008 Mar - Who cited this? | PubMed ID: 18078792 | Fulltext

Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.

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Lévêque M, Marlin S, Jonard L, Procaccio V, Reynier P, Amati-Bonneau P, Baulande S, Pierron D, Lacombe D, Duriez F, Francannet C, Mom T, Journel H, Catros H, Drouin-Garraud V, Obstoy MF,

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European journal of human genetics : EJHG 15(11):1145-55, 2007 Nov - Who cited this? | PubMed ID: 17637808 | Fulltext

Estrogen suppresses brain mitochondrial oxidative stress in female and male rats.

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Razmara A, Duckles SP, Krause DN, and Procaccio V

Brain research 1176:71, 2007 Oct 24 - Who cited this? | PubMed ID: 17889838 | Fulltext

Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome.

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Cano A, Rouzier C, Monnot S, Chabrol B, Conrath J, Lecomte P, Delobel B, Boileau P, Valero R, Procaccio V, Paquis-Flucklinger V, French Group of Wolfram Syndrome, and Vialettes B

American journal of medical genetics. Part A 143(14):1605-12, 2007 Jul 15 - Who cited this? | PubMed ID: 17568405 | Fulltext

An enhanced MITOMAP with a global mtDNA mutational phylogeny.

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Ruiz-Pesini E, Lott MT, Procaccio V, Poole JC, Brandon MC, Mishmar D, Yi C, Kreuziger J, Baldi P, and Wallace DC

Nucleic acids research 35(Database issue), 2007 Jan - Who cited this? | PubMed ID: 17178747 | Fulltext

A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.

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Sarzi E, Brown MD, Lebon S, Chretien D, Munnich A, Rotig A, and Procaccio V

American journal of medical genetics. Part A 143(1):33-41, 2007 Jan 1 - Who cited this? | PubMed ID: 17152068 | Fulltext

Adaptive selection of mitochondrial complex I subunits during primate radiation.

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Mishmar D, Ruiz-Pesini E, Mondragon-Palomino M, Procaccio V, Gaut B, and Wallace DC

Gene 378:11-8, 2006 Aug 15 - Who cited this? | PubMed ID: 16828987 | Fulltext

Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.

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Naïmi M, Bannwarth S, Procaccio V, Pouget J, Desnuelle C, Pellissier JF, Rötig A, Munnich A, Calvas P, Richelme C, Jonveaux P, Castelnovo G, Simon M, Clanet M, Wallace D, and Paquis-Flucklinger V

European journal of human genetics : EJHG 14(8):917, 2006 Aug - Who cited this? | PubMed ID: 16639411 | Fulltext

A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.

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Procaccio V, Salazar G, Ono S, Styers ML, Gearing M, Davila A, Jimenez R, Juncos J, Gutekunst CA, Meroni G, Fontanella B, Sontag E, Sontag JM, Faundez V, and Wainer BH

American journal of human genetics 78(6):947-60, 2006 Jun - Who cited this? | PubMed ID: 16685646 | Fulltext

BDNF val66met polymorphism is associated with modified experience-dependent plasticity in human motor cortex.

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Kleim JA, Chan S, Pringle E, Schallert K, Procaccio V, Jimenez R, and Cramer SC

Nature neuroscience 9(6):735-7, 2006 Jun - Who cited this? | PubMed ID: 16680163 | Fulltext

Estrogen and mitochondria: a new paradigm for vascular protection?.

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Duckles SP, Krause DN, Stirone C, and Procaccio V

Molecular interventions 6(1):26-35, 2006 Feb - Who cited this? | PubMed ID: 16507748 | Fulltext

Rapid identification of unknown heteroplasmic mutations across the entire human mitochondrial genome with mismatch-specific Surveyor Nuclease.

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Bannwarth S, Procaccio V, and Paquis-Flucklinger V

Nature protocols 1(4):2037, 2006 - Who cited this? | PubMed ID: 17487193 | Fulltext

Detection of low levels of the mitochondrial tRNALeu(UUR) 3243A>G mutation in blood derived from patients with diabetes.

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Procaccio V, Neckelmann N, Paquis-Flucklinger V, Bannwarth S, Jimenez R, Davila A, Poole JC, and Wallace DC

Molecular diagnosis & therapy 10(6):381, 2006 - Who cited this? | PubMed ID: 17154655 | Fulltext

[Spectrum of pathogenic mtDNA mutations in Leber hereditary optic neuropathy families from Siberia].

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Volod'ko NV, L'vova MA, Starikovskaia EB, Derbeneva OA, Bychkov IIu, Mikhaĭlovskaia IE, Pogozheva IV, Fedotov FF, Soyan GV, Procaccio V, Wallace DC, and Sukernik RI

Genetika 42(1):89-97, 2006 Jan - Who cited this? | PubMed ID: 16523671 | Fulltext

Estrogen increases mitochondrial efficiency and reduces oxidative stress in cerebral blood vessels.

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Stirone C, Duckles SP, Krause DN, and Procaccio V

Molecular pharmacology 68(4):959-65, 2005 Oct - Who cited this? | PubMed ID: 15994367 | Fulltext

Surveyor Nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects.

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Bannwarth S, Procaccio V, and Paquis-Flucklinger V

Human mutation 25(6):575, 2005 Jun - Who cited this? | PubMed ID: 15880407 | Fulltext

Friedreich ataxia: the oxidative stress paradox.

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Seznec H, Simon D, Bouton C, Reutenauer L, Hertzog A, Golik P, Procaccio V, Patel M, Drapier JC, Koenig M, and Puccio H

Human molecular genetics 14(4):463-74, 2005 Feb 15 - Who cited this? | PubMed ID: 15615771 | Fulltext

Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations.

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Procaccio V and Wallace DC

Neurology 62(10):1899-901, 2004 May 25 - Who cited this? | PubMed ID: 15159508 | Fulltext

Coordinated decrease of the expression of the mitochondrial and nuclear complex I genes in a mitochondrial mutant of Drosophila.

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Farge G, Touraille S, Lachaume P, Debise R, Procaccio V, and Alziari S

Journal of bioenergetics and biomembranes 36(2):203-10, 2004 Apr - Who cited this? | PubMed ID: 15224970 | Fulltext

Effects of purifying and adaptive selection on regional variation in human mtDNA.

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Ruiz-Pesini E, Mishmar D, Brandon M, Procaccio V, and Wallace DC

Science (New York, N.Y.) 303(5655):223, 2004 Jan 9 - Who cited this? | PubMed ID: 14716012 | Fulltext

Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia.

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Gearing M, Juncos JL, Procaccio V, Gutekunst CA, Marino-Rodriguez EM, Gyure KA, Ono S, Santoianni R, Krawiecki NS, Wallace DC, and Wainer BH

Annals of neurology 52(4):465-76, 2002 Oct - Who cited this? | PubMed ID: 12325076 | Fulltext

Human NDUFS3 gene coding for the 30-kDa subunit of mitochondrial complex I: genomic organization and expression.

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Procaccio V, Lescuyer P, Bourges I, Beugnot R, Duborjal H, Depetris D, Mousson B, Montfort MF, Smeets H, De Coo R, and Issartel JP

Mammalian genome : official journal of the International Mammalian Genome Society 11(9):808-10, 2000 Sep - Who cited this? | PubMed ID: 10967146 | Fulltext

Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts.

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Procaccio V, Mousson B, Beugnot R, Duborjal H, Feillet F, Putet G, Pignot-Paintrand I, Lombès A, De Coo R, Smeets H, Lunardi J, and Issartel JP

The Journal of clinical investigation 104(1):83-92, 1999 Jul - Who cited this? | PubMed ID: 10393702 | Fulltext

Genomic structure of the human NDUFS8 gene coding for the iron-sulfur TYKY subunit of the mitochondrial NADH:ubiquinone oxidoreductase.

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de Sury R, Martinez P, Procaccio V, Lunardi J, and Issartel JP

Gene 215(1):1-10, 1998 Jul 17 - Who cited this? | PubMed ID: 9666055 | Fulltext

Mapping to 1q23 of the human gene (NDUFS2) encoding the 49-kDa subunit of the mitochondrial respiratory Complex I and immunodetection of the mature protein in mitochondria.

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Procaccio V, de Sury R, Martinez P, Depetris D, Rabilloud T, Soularue P, Lunardi J, and Issartel J

Mammalian genome : official journal of the International Mammalian Genome Society 9(6):482-4, 1998 Jun - Who cited this? | PubMed ID: 9585441 | Fulltext

Two-dimensional electrophoresis of human placental mitochondria and protein identification by mass spectrometry: toward a human mitochondrial proteome.

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Rabilloud T, Kieffer S, Procaccio V, Louwagie M, Courchesne PL, Patterson SD, Martinez P, Garin J, and Lunardi J

Electrophoresis 19(6):1006-14, 1998 May - Who cited this? | PubMed ID: 9638947 | Fulltext

A nonradioactive double detection method for the assignment of spots in two-dimensional blots.

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Chevallet M, Procaccio V, and Rabilloud T

Analytical biochemistry 251(1):69-72, 1997 Aug 15 - Who cited this? | PubMed ID: 9300084 | Fulltext

Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle.

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Monnier N, Procaccio V, Stieglitz P, and Lunardi J

American journal of human genetics 60(6):1316-25, 1997 Jun - Who cited this? | PubMed ID: 9199552 | Fulltext

cDNA sequence and chromosomal localization of the NDUFS8 human gene coding for the 23 kDa subunit of the mitochondrial complex I.

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Procaccio V, Depetris D, Soularue P, Mattei MG, Lunardi J, and Issartel JP

Biochimica et biophysica acta 1351(1-2):37-41, 1997 Mar 20 - Who cited this? | PubMed ID: 9116042 | Fulltext

Identification of five Rhodobacter capsulatus genes encoding the equivalent of ND subunits of the mitochondrial NADH-ubiquinone oxidoreductase.

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Dupuis A, Peinnequin A, Chevallet M, Lunardi J, Darrouzet E, Pierrard B, Procaccio V, and Issartel JP

Gene 167(1-2):99-104, 1995 Dec 29 - Who cited this? | PubMed ID: 8566820 | Fulltext

Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1.

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Sudbrak R, Procaccio V, Klausnitzer M, Curran JL, Monsieurs K, van Broeckhoven C, Ellis R, Heyetens L, Hartung EJ, and Kozak-Ribbens G

American journal of human genetics 56(3):684-91, 1995 Mar - Who cited this? | PubMed ID: 7887423 | Fulltext

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Papers authored by Procaccio V

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