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MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy.
Pujol, Claire; Lebigot, Elise; Gaignard, Pauline; Galai, Said; Kraoua, Ichraf; Bault, Jean-Philippe; Dard, Rodolphe; Youssef-Turki, Ilhem Ben; Omar, Souheil; Boutron, Audrey; Wai, Timothy; Slama, Abdelhamid.
Afiliação
  • Pujol C; Mitochondrial Biology Group, Institut Pasteur, CNRS UMR 3691, 75015 Paris, France.
  • Lebigot E; Université Paris Cité, 75006 Paris, France.
  • Gaignard P; Biochemistry Department, Bicêtre Hospital, APHP Paris Saclay, 94270 Le Kremlin Bicêtre, France.
  • Galai S; Biochemistry Department, Bicêtre Hospital, APHP Paris Saclay, 94270 Le Kremlin Bicêtre, France.
  • Kraoua I; Research Laboratory of Neurological Diseases of the Child (LR18SP04), Department of Clinical Biology, Faculty of Medicine of Tunis, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, 1068 Tunis, Tunisia.
  • Bault JP; Research Laboratory of Neurological Diseases of the Child (LR18SP04), Department of Pediatric Neurology, National Institute Mongi Ben Hmida of Neurology, Faculty of Medicine of Tunis, University of Tunis El Manar, 1068 Tunis, Tunisia.
  • Dard R; Research Laboratory of Neurological Diseases of the Child (LR18SP04), Department of Pediatric Neurology, National Institute Mongi Ben Hmida of Neurology, Faculty of Medicine of Tunis, University of Tunis El Manar, 1068 Tunis, Tunisia.
  • Youssef-Turki IB; Department of Gynecology, Poissy-Saint Germain en Laye Hospital, 78300 Poissy, France.
  • Omar S; Department of Gynecology, Poissy-Saint Germain en Laye Hospital, 78300 Poissy, France.
  • Boutron A; Department of Medical Genetics, Poissy-Saint Germain en Laye Hospital, 78300 Poissy, France.
  • Wai T; Research Laboratory of Neurological Diseases of the Child (LR18SP04), Department of Pediatric Neurology, National Institute Mongi Ben Hmida of Neurology, Faculty of Medicine of Tunis, University of Tunis El Manar, 1068 Tunis, Tunisia.
  • Slama A; Research Laboratory of Neurological Diseases of the Child (LR18SP04), Department of Clinical Biology, Faculty of Medicine of Tunis, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, 1068 Tunis, Tunisia.
Brain ; 146(3): 858-864, 2023 03 01.
Article em En | MEDLINE | ID: mdl-36417180
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte da Membrana Mitocondrial / Mitocôndrias Idioma: En Ano de publicação: 2023 Tipo de documento: Article País de afiliação: França
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte da Membrana Mitocondrial / Mitocôndrias Idioma: En Ano de publicação: 2023 Tipo de documento: Article País de afiliação: França