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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Veröffentlicht in:	American journal of human genetics 2011-07, Vol.89 (1), p.56-66
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Age of Onset Aged Amino Acid Sequence Animals Apoptosis Apoptosis - genetics Asian Continental Ancestry Group Biological and medical sciences DNA Mutational Analysis Down-Regulation Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology Female Fundamental and applied biological sciences. Psychology Gene Expression Regulation, Developmental General aspects. Genetic counseling Genetic disorders Genetic Linkage Genetics of eukaryotes. Biological and molecular evolution Hearing loss Hearing Loss - genetics Hearing Loss - pathology HeLa Cells Humans Immunohistochemistry Immunoprecipitation Intracellular Signaling Peptides and Proteins - genetics Intracellular Signaling Peptides and Proteins - metabolism Male Medical genetics Medical sciences Membrane Potentials - genetics Mice Middle Aged Mitochondrial Proteins - genetics Mitochondrial Proteins - metabolism Molecular and cellular biology Molecular Sequence Data Mutagenesis, Site-Directed Mutation Mutation, Missense Non tumoral diseases Otorhinolaryngology. Stomatology Pedigree Polymorphism, Single Nucleotide Proteins RNA, Small Interfering - metabolism Up-Regulation Young Adult
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