Publications by authors named "Audrey Boutron"

27Publications

Two human patient mitochondrial pyruvate carrier mutations reveal distinct molecular mechanisms of dysfunction.

JCI Insight 2019 05 30;5. Epub 2019 May 30.

Department of Biochemistry, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.

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May 2019

Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.

Mol Genet Metab 2018 04 12;123(4):441-448. Epub 2018 Feb 12.

Department of Biochemistry and Molecular Biology, Laboratory of Endocrinology, Metabolism-Nutrition, Oncology, Biology Pathology Center, CHRU Lille, 59037 Lille, France; Univ. Lille, RADEME - Maladies RAres du Développement et du Métabolisme: du phénotype au génotype et à la Fonction, Lille, EA 7364, France; Inserm, Lille, France. Electronic address:

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April 2018

UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia.

J Hum Genet 2017 Jul 9;62(7):729-731. Epub 2017 Mar 9.

APHP-CHU de Bicêtre, Biochemistry Department, 78, rue du Général Leclerc, Le Kremlin Bicêtre, France.

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July 2017

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

Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy.

Muscle Nerve 2017 06 26;55(6):919-922. Epub 2017 Mar 26.

Nice Sophia Antipolis University, Institute for Research on Cancer and Aging (IRCAN), CNRS, INSERM, UMR 7284 and U1081, School of Medicine, 28 avenue de Valombrose, 06107, Nice cedex 2, France.

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June 2017

AIP mutations impair AhR signaling in pituitary adenoma patients fibroblasts and in GH3 cells.

Endocr Relat Cancer 2016 05 14;23(5):433-43. Epub 2016 Apr 14.

Institut National de la Santé et de la Recherche Médicale (Inserm) U1185Le Kremlin-Bicêtre, France Université Paris-SudFaculté de Médecine Paris-Sud, Université Paris Saclay, Le Kremlin-Bicêtre, France Assistance Publique-Hôpitaux de ParisService d'Endocrinologie et des Maladies de la Reproduction, Hôpital Bicêtre, Le Kremlin-Bicêtre, France

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May 2016

Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency.

J Neuropathol Exp Neurol 2016 Mar 9;75(3):227-38. Epub 2016 Feb 9.

From the Department of Radiology (NP), Pathology Laboratory (MC, AL), and Department of Metabolic Biochemistry (AS, SB), Rouen University Hospital, Rouen, France; Pathology Department (HAB), Lariboisière University Hospital, Rouen, France; Pathology Laboratory (MB), Jean Verdier University Hospital, Paris-Bondy, Rouen, France; Biochemistry and Genetics Laboratory (AB), Bicêtre University Hospital, Paris-le Kremlin Bicêtre, Paris, France; Department of Obstetrics and Gynecology (LC), Jean Verdier University Hospital, Paris-Bondy, France; Intensive Care Unit (CM), Trousseau University Hospital, Paris, France; Belvédère Maternity Hospital (LT), Mont Saint Aignan, France; and NeoVasc Region-Inserm Team ERI28, Laboratory of Microvascular Endothelium and Neonate Brain Lesions (SB, AL), Institute for Research and Innovation in Biomedicine, University of Rouen, Rouen, France.

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March 2016

New spastic paraplegia phenotype associated to mutation of NFU1.

Orphanet J Rare Dis 2015 Feb 8;10:13. Epub 2015 Feb 8.

Paris Diderot University - Sorbonne Paris Cité; Inserm U1141, DHU PROTECT, Robert Debré Hospital, Paris, France.

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February 2015

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

Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency.

Mitochondrion 2014 Mar 22;15:59-64. Epub 2014 Jan 22.

Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, APHP, Paris, France. Electronic address:

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March 2014