Search Results - "Brivet, Michele"

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients by Baruteau, Julien, Sachs, Philippe, Broué, Pierre, Brivet, Michèle, Abdoul, Hendy, Vianey-Saban, Christine, Ogier de Baulny, Hélène

“…Introduction Mitochondrial fatty acid β-oxidation defects (FAODs) are a group of severe inherited metabolic diseases, most of which can be treated with…”
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Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis by BARNERIAS, CHRISTINE, SAUDUBRAY, JEAN‐MARIE, TOUATI, GUY, DE LONLAY, PASCALE, DULAC, OLIVIER, PONSOT, GERARD, MARSAC, CÉCILE, BRIVET, MICHÈLE, DESGUERRE, ISABELLE

“…Aim  To describe the phenotype and genotype of pyruvate dehydrogenase complex (PDHc) deficiency. Method  Twenty‐two participants with enzymologically and…”
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LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood by Michot, Caroline, Hubert, Laurence, Brivet, Michèle, De Meirleir, Linda, Valayannopoulos, Vassili, Müller-Felber, Wolfgang, Venkateswaran, Ramesh, Ogier, Hélène, Desguerre, Isabelle, Altuzarra, Cécilia, Thompson, Elizabeth, Smitka, Martin, Huebner, Angela, Husson, Marie, Horvath, Rita, Chinnery, Patrick, Vaz, Frederic M, Munnich, Arnold, Elpeleg, Orly, Delahodde, Agnès, de Keyzer, Yves, de Lonlay, Pascale

“…Autosomal recessive LPIN1mutations have been recently described as a novel cause of rhabdomyolysis in a few families. The purpose of the study was to evaluate…”
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Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency by Laforêt, Pascal, Acquaviva-Bourdain, Cécile, Rigal, Odile, Brivet, Michèle, Penisson-Besnier, Isabelle, Chabrol, Brigitte, Chaigne, Denys, Boespflug-Tanguy, Odile, Laroche, Cécile, Bedat-Millet, Anne-Laure, Behin, Anthony, Delevaux, Isabelle, Lombès, Anne, Andresen, Brage S, Eymard, Bruno, Vianey-Saban, Christine

“…Abstract Very Long-Chain Acyl-CoA dehydrogenase (VLCAD) deficiency is an inborn error of mitochondrial long-chain fatty acid oxidation (FAO) most often…”
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The SR Protein SC35 Is Responsible for Aberrant Splicing of the E1α Pyruvate Dehydrogenase mRNA in a Case of Mental Retardation with Lactic Acidosis by Gabut, Mathieu, Miné, Manuèle, Marsac, Cécile, Brivet, Michèle, Tazi, Jamal, Soret, Johann

“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element by Miné, Manuèle, Chen, Jian-Min, Brivet, Michèle, Desguerre, Isabelle, Marchant, Dominique, de Lonlay, Pascale, Bernard, Aral, Férec, Claude, Abitbol, Marc, Ricquier, Daniel, Marsac, Cécile

“…The long interspersed element‐1 (LINE‐1 or L1) retrotransposition has altered the human genome in many ways. In particular, recent in vitro studies have…”
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A Mitochondrial Pyruvate Carrier Required for Pyruvate Uptake in Yeast, Drosophila, and Humans by Bricker, Daniel K., Taylor, Eric B., Schell, John C., Orsak, Thomas, Boutron, Audrey, Chen, Yu-Chan, Cox, James E., Cardon, Caleb M., Van Vranken, Jonathan G., Dephoure, Noah, Redin, Claire, Boudina, Sihem, Gygi, Steven P., Brivet, Michèle, Thummel, Carl S., Rutter, Jared

“…Pyruvate constitutes a critical branch point in cellular carbon metabolism. We have identified two proteins, Mpc1 and Mpc2, as essential for mitochondrial…”
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Post-mortem MRI reveals CPT2 deficiency after sudden infant death by Bouchireb, Karim, Teychene, Anne-Marie, Rigal, Odile, de Lonlay, Pascale, Valayannopoulos, Vassili, Gaudelus, Joel, Sellier, Nicolas, Bonnefont, J. P., Brivet, Michèle, de Pontual, Loic

“…Inherited metabolic disorders are the cause of a small but significant number of sudden infant deaths in infants. We report on a boy who suddenly died at…”
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Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency by Feillet, François, Merten, Marc, Battaglia-Hsu, Shyue-Fang, Rabier, Daniel, Kobayashi, Keiko, Straczek, Jean, Brivet, Michèle, Favre, Elisabeth, Guéant, Jean-Louis

“…Classical galactosemia is an autosomal recessive disorder caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase. Undoubtedly, some of…”
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First characterization of a large deletion of the PDHA1 gene by Brivet, Michèle, Moutard, Marie-Laure, Zater, Mokhtar, Venet, Lydia, Chenel, Claude, Mine, Manuele, Legrand, A.

“…Pyruvate dehydrogenase complex (PDC) deficiency is one of the major recognized causes of congenital lactic acidosis. The most common form is due to PDHA1 gene…”
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E4F1 controls a transcriptional program essential for pyruvate dehydrogenase activity by Lacroix, Matthieu, Rodier, Geneviève, Kirsh, Olivier, Houles, Thibault, Delpech, Hélène, Seyran, Berfin, Gayte, Laurie, Casas, Francois, Pessemesse, Laurence, Heuillet, Maud, Bellvert, Floriant, Portais, Jean-Charles, Berthet, Charlene, Bernex, Florence, Brivet, Michele, Boutron, Audrey, Le Cam, Laurent, Sardet, Claude

“…The mitochondrial pyruvate dehydrogenase (PDH) complex (PDC) acts as a central metabolic node that mediates pyruvate oxidation and fuels the tricarboxylic acid…”
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A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency by Miné, Manuèle, Brivet, Michèle, Schiff, Manuel, de Baulny, Hélène Ogier, Chuzhanova, Nadia, Marsac, Cécile

“…We report here the molecular analysis of a pyruvate dehydrogenase E3-binding protein (PDH-E3BP) deficiency in a new patient, born to first cousin parents. She…”
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Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children by BONNET, D, MARTIN, D, DE LONLAY, P, VILLAIN, E, JOUVET, P, RABIER, D, BRIVET, M, SAUDUBRAY, J.-M

“…The clinical manifestations of inherited disorders of fatty acid oxidation vary according to the enzymatic defect. They may present as isolated cardiomyopathy,…”
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Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development by Shelihan, Ivan, Rossignol, Elsa, Décarie, Jean‐Claude, Bonnefont, Jean‐Paul, Brivet, Michèle, Brunel‐Guitton, Catherine, Mitchell, Grant A.

“…Objective To report an adolescent with infantile‐onset carnitine palmitoyltransferase 2 (CPT2) deficiency and cerebral malformations and to review the…”
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Ovarian tissue cryopreservation and subsequent spontaneous pregnancies in a patient with classic galactosemia by Forges, Thierry, M.D., Ph.D, Monnier, Patricia, M.D., Ph.D, Leheup, Bruno, M.D., Ph.D, Cheillan, David, Ph.D, Brivet, Michèle, M.D, Barbarino, Aurelio, M.D, Guéant, Jean-Louis, M.D., Sc.D, Feillet, François, M.D., Ph.D

“…Objective To report two consecutive spontaneous pregnancies in a compound heterozygous patient with classic galactosemia and a heterozygous partner, 6 years…”
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Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations by Boutron, Audrey, Marabotti, Anna, Facchiano, Angelo, Cheillan, David, Zater, Mokhtar, Oliveira, Christophe, Costa, Catherine, Labrune, Philippe, Brivet, Michèle

“…Classic galactosemia refers to galactose-1-phosphate uridyltransferase (GALT) deficiency and is characterized by long-term complications of unknown mechanism…”
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Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients by Tajir, Mariam, Arnoux, Jean Baptiste, Boutron, Audrey, Elalaoui, Siham Chafai, De Lonlay, Pascale, Sefiani, Abdelaziz, Brivet, Michèle

“…Abstract Pyruvate dehydrogenase deficiency is one of the genetic defects of mitochondrial energy metabolism. Clinical features are heterogeneous, ranging from…”
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Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects by Pagniez-Mammeri, Hélène, Lombes, Anne, Brivet, Michèle, Ogier-de Baulny, Hélène, Landrieu, Pierre, Legrand, Alain, Slama, Abdelhamid

“…Complex I or reduced nicotinamide adenine dinucleotide (NADH): ubiquinone oxydoreductase deficiency is the most common cause of respiratory chain defects…”
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A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis by HAUT, Sandrine, BRIVET, Michèle, TOUATI, Guy, RUSTIN, Pierre, LEBON, Sophie, GARCIA-CAZORLA, Angela, SAUDUBRAY, Jean Marie, BOUTRON, Audrey, LEGRAND, Alain, SLAMA, Abdelhamid

“…Mitochondrial respiratory chain complex III (ubiquinol-cytochrome c reductase) consists of 11 subunits, only one (cytochrome b) being encoded by the…”
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Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy by Barth, Magalie, Ottolenghi, Chris, Hubert, Laurence, Chrétien, Dominique, Serre, Valérie, Gobin, Stéphanie, Romano, Stéphane, Vassault, Anne, Sefiani, Aziz, Ricquier, Daniel, Boddaert, Nathalie, Brivet, Michèle, de Keyzer, Yves, Munnich, Arnold, Duran, Marinus, Rabier, Daniel, Valayannopoulos, Vassili, de Lonlay, Pascale

“…Ethylmalonic encephalopathy (EE) is a rare metabolic disorder caused by dysfunction of ETHE1, a mitochondrial dioxygenase involved in hydrogen sulfide (H 2 S)…”
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