Publications by authors named "Michele Brivet"

30 Publications

  • Page 1 of 1

E4F1 controls a transcriptional program essential for pyruvate dehydrogenase activity.

Proc Natl Acad Sci U S A 2016 09 12;113(39):10998-1003. Epub 2016 Sep 12.

Institut de Recherche en Cancérologie de Montpellier, Montpellier F-34298, France; INSERM, U1194, Montpellier F-34298, France; Université Montpellier, Montpellier F-34090, France; Institut du Cancer Montpellier, Montpellier F-34298, France; Equipe labellisée Ligue Contre le Cancer, 75013 Paris, France; Institut de Génétique Moléculaire de Montpellier, UMR5535, CNRS, Montpellier F-34293, France;

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September 2016

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.

Ann Clin Transl Neurol 2014 Jul 19;1(7):462-70. Epub 2014 Jun 19.

Telethon Institute of Genetics and Medicine Naples, Italy ; Department of Translational Medicine, Federico II University of Naples Naples, Italy.

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July 2014

A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency.

JIMD Rep 2012 31;6:7-14. Epub 2012 Jan 31.

Laboratory of Hormonology, Metabolism-Nutrition & Oncology (HMNO), Center of Biology and Pathology, CHRU Lille, 59037, Lille, France.

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February 2013

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients.

J Inherit Metab Dis 2013 Sep 3;36(5):795-803. Epub 2012 Oct 3.

Hépatologie Pédiatrique et Maladies Métaboliques, Hôpital des Enfants-CHU Toulouse, Toulouse, France.

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September 2013

Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients.

Eur J Med Genet 2012 Oct 20;55(10):535-40. Epub 2012 Jul 20.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V Souissi, Rabat, Morocco.

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October 2012

Ovarian tissue cryopreservation and subsequent spontaneous pregnancies in a patient with classic galactosemia.

Fertil Steril 2011 Jan;95(1):290.e1-3

INSERM U954, Nutrition, Genetics, and Environmental Risk Exposure, Nancy University Medical School, and Department of Pediatrics and Clinical Genetics, University Hospital of Nancy, Vandoeuvre lès Nancy, France.

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January 2011

Post-mortem MRI reveals CPT2 deficiency after sudden infant death.

Eur J Pediatr 2010 Dec 27;169(12):1561-3. Epub 2010 Jul 27.

Service de Pédiatrie, Université Paris XIII, Hôpital Jean Verdier, Assistance Publique-Hôpitaux de Paris, Avenue du 14 Juillet, 93140 Bondy, France.

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December 2010

Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects.

Mol Genet Metab 2009 Apr 22;96(4):196-200. Epub 2009 Jan 22.

Laboratoire de Biochimie, APHP Hôpital de Bicêtre, 78, rue du Général Leclerc, 94275 Le Kremlin-Bicêtre Cedex, France.

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April 2009

Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.

J Hepatol 2008 Mar 31;48(3):517-22. Epub 2007 Dec 31.

Centre de Référence des Maladies Héréditaires du Métabolisme et Inserm U724, CHU et Faculté de Médecine de Nancy, France.

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March 2008

Leigh's disease due to a new mutation in the PDHX gene.

Ann Neurol 2006 Apr;59(4):709-14

Service de Neuropédiatrie et Maladies métaboliques, Hôpital Robert Debré, Paris, France.

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April 2006

Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency.

Eur J Pediatr 2006 Jun 8;165(6):389-91. Epub 2006 Mar 8.

Groupement de Médecine Pédiatrique, Hôpital Clocheville, 49 Boulevard Béranger, 37 044 Tours, Cedex 1, France.

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June 2006

First characterization of a large deletion of the PDHA 1 gene.

Mol Genet Metab 2005 Dec 25;86(4):456-61. Epub 2005 Oct 25.

Laboratoire de Biochimie 1, AP-HP hôpital de Bicêtre, France.

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December 2005

The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis.

Mol Cell Biol 2005 Apr;25(8):3286-94

UMR 5535, IFR122, CNRS-UMII, Institut de Génétique Moléculaire de Montpellier, 1919 route de Mende, 34293 Montpellier, France.

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April 2005

Respiratory chain defects may present only with hypoglycemia.

J Clin Endocrinol Metab 2005 Jun 22;90(6):3780-5. Epub 2005 Mar 22.

Service des Maladies Métaboliques, Hôpital Necker Enfants-Malades, 149 rue de Sèvres, Paris 75015, France.

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June 2005

A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis.

Hum Genet 2003 Jul 23;113(2):118-22. Epub 2003 Apr 23.

Laboratoire de Biochimie 1, AP-HP Hôpital de Bicêtre, 78 Rue du Général Leclerc, Cédex, 94275 Le Kremlin Bicetre, France.

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July 2003

Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation.

J Biol Chem 2003 Apr 27;278(14):11768-72. Epub 2003 Jan 27.

Laboratoire Centre de Recherche Thérapeutique en Ophtalmologie, Faculté de Médecine Necker, 156 rue de Vaugirard 75015 Paris, France.

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April 2003