Functional Mutation of SMAC/DIABLO, Encoding a Mitochondrial Proapoptotic Protein, Causes Human Progressive Hearing Loss DFNA64

SMAC/DIABLO is a mitochondrial proapoptotic protein that is released from mitochondria during apoptosis and counters the inhibitory activities of inhibitor of apoptosis proteins, IAPs. By linkage analysis and candidate screening, we identified a heterozygous SMAC/DIABLO mutation, c.377C>T (p.Ser1...

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Hoofdauteurs: Cheng, Jing, Zhu, Yuhua, He, Sudan, Lu, Yanping, Chen, Jing, Han, Bing, Petrillo, Marco, Wrzeszczynski, Kazimierz O., Yang, Shiming, Dai, Pu, Zhai, Suoqiang, Han, Dongyi, Zhang, Michael Q., Li, Wei, Liu, Xuezhong, Li, Huawei, Chen, Zheng-Yi, Yuan, Huijun
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2011
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3135809/
https://ncbi.nlm.nih.gov/pubmed/21722859
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.05.027
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