A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions | Zendy

Cécile Rouzier | Zendy; David Moore | Zendy; Cécile Delorme | Zendy; Sandra LacasGervais | Zendy; Samira Ait-El-Mkadem | Zendy; Konstantina Fragaki | Zendy; Florence Burté | Zendy; Valérie Serre | Zendy; Sylvie Bannwarth | Zendy; Annabelle Chaussenot | Zendy; Martin Catala | Zendy; Patrick YuWaiMan | Zendy; Véronique PaquisFlucklinger | Zendy

Open Access

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions

Author(s) -

Cécile Rouzier,

David Moore,

Cécile Delorme,

Sandra LacasGervais,

Samira Ait-El-Mkadem,

Konstantina Fragaki,

Florence Burté,

Valérie Serre,

Sylvie Bannwarth,

Annabelle Chaussenot,

Martin Catala,

Patrick YuWaiMan,

Véronique PaquisFlucklinger

Publication year - 2017

Publication title -

human molecular genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.811

H-Index - 276

eISSN - 1460-2083

pISSN - 0964-6906

DOI - 10.1093/hmg/ddx130

Subject(s) - wolfram syndrome , biology , mitochondrion , mutation , atrophy , phenotype , homeostasis , glucose homeostasis , genetics , endocrinology , microbiology and biotechnology , medicine , diabetes mellitus , gene , insulin resistance

International audienceno abstrac

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