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A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.
Rouzier, Cécile; Moore, David; Delorme, Cécile; Lacas-Gervais, Sandra; Ait-El-Mkadem, Samira; Fragaki, Konstantina; Burté, Florence; Serre, Valérie; Bannwarth, Sylvie; Chaussenot, Annabelle; Catala, Martin; Yu-Wai-Man, Patrick; Paquis-Flucklinger, Véronique.
Afiliação
  • Rouzier C; Université Côte d'Azur, CHU, Inserm, CNRS, IRCAN, France.
  • Moore D; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Delorme C; Fédération de Neurologie, Université Pierre et Marie Curie et Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
  • Lacas-Gervais S; Joint Centre for Applied Electron Microscopy, Nice Sophia-Antipolis University, Nice, France.
  • Ait-El-Mkadem S; Université Côte d'Azur, CHU, Inserm, CNRS, IRCAN, France.
  • Fragaki K; Université Côte d'Azur, CHU, Inserm, CNRS, IRCAN, France.
  • Burté F; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Serre V; UMR7592 CNRS, Jacques Monod Institute, Paris Diderot University, Paris, France.
  • Bannwarth S; Université Côte d'Azur, CHU, Inserm, CNRS, IRCAN, France.
  • Chaussenot A; Université Côte d'Azur, CHU, Inserm, CNRS, IRCAN, France.
  • Catala M; UMR 7622 CNRS et UPMC et Fédération de Neurologie, Université Pierre et Marie Curie et Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
  • Yu-Wai-Man P; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Paquis-Flucklinger V; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK.
Hum Mol Genet ; 26(9): 1599-1611, 2017 05 01.
Article em En | MEDLINE | ID: mdl-28335035
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Óptica / Senilidade Prematura / Doenças Mitocondriais / Perda Auditiva Neurossensorial / Proteínas de Membrana Tipo de estudo: Risk_factors_studies Limite: Humans / Male / Middle aged Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: França
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Óptica / Senilidade Prematura / Doenças Mitocondriais / Perda Auditiva Neurossensorial / Proteínas de Membrana Tipo de estudo: Risk_factors_studies Limite: Humans / Male / Middle aged Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: França