A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.
about
A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients.The unique fold and lability of the [2Fe-2S] clusters of NEET proteins mediate their key functions in health and disease.Dysfunction in the mitochondrial Fe-S assembly machinery leads to formation of the chemoresistant truncated VDAC1 isoform without HIF-1α activation.Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies.
P2860
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.
description
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2017 թուականի Մարտին հրատարակուած գիտական յօդուած
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2017 թվականի մարտին հրատարակված գիտական հոդված
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2017年の論文
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2017年論文
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2017年論文
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2017年論文
@zh-mo
2017年論文
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2017年论文
@wuu
name
A novel CISD2 mutation associa ...... ER-mitochondria interactions.
@ast
A novel CISD2 mutation associa ...... ER-mitochondria interactions.
@en
type
label
A novel CISD2 mutation associa ...... ER-mitochondria interactions.
@ast
A novel CISD2 mutation associa ...... ER-mitochondria interactions.
@en
prefLabel
A novel CISD2 mutation associa ...... ER-mitochondria interactions.
@ast
A novel CISD2 mutation associa ...... ER-mitochondria interactions.
@en
P2093
P2860
P356
P1476
A novel CISD2 mutation associa ...... ER-mitochondria interactions.
@en
P2093
Annabelle Chaussenot
Cécile Delorme
Cécile Rouzier
David Moore
Florence Burté
Konstantina Fragaki
Martin Catala
Samira Ait-El-Mkadem
Sandra Lacas-Gervais
Sylvie Bannwarth
P2860
P304
P356
10.1093/HMG/DDX060
P577
2017-03-06T00:00:00Z