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Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.
Lebigot, E; Gaignard, P; Dorboz, I; Slama, A; Rio, M; de Lonlay, P; Héron, B; Sabourdy, F; Boespflug-Tanguy, O; Cardoso, A; Habarou, F; Ottolenghi, C; Thérond, P; Bouton, C; Golinelli-Cohen, M P; Boutron, A.
Afiliação
  • Lebigot E; Biochemistry Department, Hôpital de Bicêtre, Hôpitaux universitaires Paris-Sud, Assistance Publique - Hôpitaux de Paris, 94270 Le Kremlin Bicêtre, France; Institut de Chimie des Substances Naturelles (ICSN), CNRS UPR 2301, Univ. Paris-Sud, Université Paris-Saclay, 91198 Gif-sur-Yvette cedex, France.
  • Gaignard P; Biochemistry Department, Hôpital de Bicêtre, Hôpitaux universitaires Paris-Sud, Assistance Publique - Hôpitaux de Paris, 94270 Le Kremlin Bicêtre, France.
  • Dorboz I; Inserm U1141, Paris Diderot University, Sorbonne Paris Cité, DHU PROTECT, Hôpital Robert Debré, Paris, France.
  • Slama A; Biochemistry Department, Hôpital de Bicêtre, Hôpitaux universitaires Paris-Sud, Assistance Publique - Hôpitaux de Paris, 94270 Le Kremlin Bicêtre, France.
  • Rio M; Reference Center of Inherited Metabolic Diseases, Hôpital Necker Enfants Malades, Institut Imagine, Assistance Publique - Hôpitaux de Paris, Université Paris-Descartes, 75015 Paris, France.
  • de Lonlay P; Reference Center of Inherited Metabolic Diseases, Hôpital Necker Enfants Malades, Institut Imagine, Assistance Publique - Hôpitaux de Paris, Université Paris-Descartes, 75015 Paris, France.
  • Héron B; Neuropediatrics Department, Hôpital Trousseau, Assistance Publique - Hôpitaux de Paris, 75012 Paris, GCR Concer-LD Sorbonne Universités UPMC, Univ 06, Paris, France.
  • Sabourdy F; Metabolic Biochemistry Department, Hôpital des Enfants, 31059 Toulouse cedex, France.
  • Boespflug-Tanguy O; Inserm U1141, Paris Diderot University, Sorbonne Paris Cité, DHU PROTECT, Hôpital Robert Debré, Paris, France; Neuropediatrics Department, Hôpital Robert Debré, Assistance Publique - Hôpitaux de Paris, 75019 Paris, France.
  • Cardoso A; Biochemistry Department, Hôpital de Bicêtre, Hôpitaux universitaires Paris-Sud, Assistance Publique - Hôpitaux de Paris, 94270 Le Kremlin Bicêtre, France.
  • Habarou F; Metabolic Biochemistry Department, Hôpital Necker Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.
  • Ottolenghi C; Metabolic Biochemistry Department, Hôpital Necker Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.
  • Thérond P; Biochemistry Department, Hôpital de Bicêtre, Hôpitaux universitaires Paris-Sud, Assistance Publique - Hôpitaux de Paris, 94270 Le Kremlin Bicêtre, France.
  • Bouton C; Institut de Chimie des Substances Naturelles (ICSN), CNRS UPR 2301, Univ. Paris-Sud, Université Paris-Saclay, 91198 Gif-sur-Yvette cedex, France.
  • Golinelli-Cohen MP; Institut de Chimie des Substances Naturelles (ICSN), CNRS UPR 2301, Univ. Paris-Sud, Université Paris-Saclay, 91198 Gif-sur-Yvette cedex, France.
  • Boutron A; Biochemistry Department, Hôpital de Bicêtre, Hôpitaux universitaires Paris-Sud, Assistance Publique - Hôpitaux de Paris, 94270 Le Kremlin Bicêtre, France. Electronic address: audrey.boutron@aphp.fr.
Mol Genet Metab ; 122(3): 85-94, 2017 11.
Article em En | MEDLINE | ID: mdl-28803783
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ácido Tióctico / Proteínas Mitocondriais / Fibroblastos / Proteínas Ferro-Enxofre / Mutação Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2017 Tipo de documento: Article País de afiliação: França País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ácido Tióctico / Proteínas Mitocondriais / Fibroblastos / Proteínas Ferro-Enxofre / Mutação Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2017 Tipo de documento: Article País de afiliação: França País de publicação: Estados Unidos