| pubmed-article:21722859 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:21722859 | lifeskim:mentions | umls-concept:C0086418 | lld:lifeskim |
| pubmed-article:21722859 | lifeskim:mentions | umls-concept:C1842138 | lld:lifeskim |
| pubmed-article:21722859 | lifeskim:mentions | umls-concept:C0015127 | lld:lifeskim |
| pubmed-article:21722859 | lifeskim:mentions | umls-concept:C0033684 | lld:lifeskim |
| pubmed-article:21722859 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:21722859 | lifeskim:mentions | umls-concept:C0521451 | lld:lifeskim |
| pubmed-article:21722859 | lifeskim:mentions | umls-concept:C0205245 | lld:lifeskim |
| pubmed-article:21722859 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
| pubmed-article:21722859 | lifeskim:mentions | umls-concept:C1427590 | lld:lifeskim |
| pubmed-article:21722859 | lifeskim:mentions | umls-concept:C0679058 | lld:lifeskim |
| pubmed-article:21722859 | lifeskim:mentions | umls-concept:C1547699 | lld:lifeskim |
| pubmed-article:21722859 | lifeskim:mentions | umls-concept:C2700640 | lld:lifeskim |
| pubmed-article:21722859 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:21722859 | pubmed:dateCreated | 2011-7-18 | lld:pubmed |
| pubmed-article:21722859 | pubmed:abstractText | 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.Ser126Leu, refers to p.Ser71Leu in the mature protein) in a six-generation Chinese kindred characterized by dominant progressive nonsyndromic hearing loss, designated as DFNA64. SMAC/DIABLO is highly expressed in human embryonic ears and is enriched in the developing mouse inner-ear hair cells, suggesting it has a role in the development and homeostasis of hair cells. We used a functional study to demonstrate that the SMAC/DIABLO(S71L) mutant, while retaining the proapoptotic function, triggers significant degradation of both wild-type and mutant SMAC/DIABLO and renders host mitochondria susceptible to calcium-induced loss of the membrane potential. Our work identifies DFNA64 as the human genetic disorder associated with SMAC/DIABLO malfunction and suggests that mutant SMAC/DIABLO(S71L) might cause mitochondrial dysfunction. | lld:pubmed |
| pubmed-article:21722859 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21722859 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21722859 | pubmed:language | eng | lld:pubmed |
| pubmed-article:21722859 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21722859 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:21722859 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21722859 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21722859 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21722859 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21722859 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:21722859 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:21722859 | pubmed:issn | 1537-6605 | lld:pubmed |
| pubmed-article:21722859 | pubmed:author | pubmed-author:AhoAA | lld:pubmed |
| pubmed-article:21722859 | pubmed:author | pubmed-author:FuY PYP | lld:pubmed |
| pubmed-article:21722859 | pubmed:author | pubmed-author:ChenJingJ | lld:pubmed |
| pubmed-article:21722859 | pubmed:author | pubmed-author:HanBingB | lld:pubmed |
| pubmed-article:21722859 | pubmed:author | pubmed-author:HanDongyiD | lld:pubmed |
| pubmed-article:21722859 | pubmed:author | pubmed-author:YuanHuijunH | lld:pubmed |
| pubmed-article:21722859 | pubmed:author | pubmed-author:YangShimingS | lld:pubmed |
| pubmed-article:21722859 | pubmed:author | pubmed-author:ChengJingJ | lld:pubmed |
| pubmed-article:21722859 | pubmed:author | pubmed-author:ChenZheng-YiZ... | lld:pubmed |
| pubmed-article:21722859 | pubmed:author | pubmed-author:ZhangMichael... | lld:pubmed |
| pubmed-article:21722859 | pubmed:author | pubmed-author:ZhaiSuoqiangS | lld:pubmed |
| pubmed-article:21722859 | pubmed:author | pubmed-author:LiHuaweiH | lld:pubmed |
| pubmed-article:21722859 | pubmed:author | pubmed-author:ZhuYuhuaY | lld:pubmed |
| pubmed-article:21722859 | pubmed:author | pubmed-author:Wrzeszczynski... | lld:pubmed |
| pubmed-article:21722859 | pubmed:author | pubmed-author:PetrilloMarco... | lld:pubmed |
| pubmed-article:21722859 | pubmed:author | pubmed-author:LiuXuezhongX | lld:pubmed |
| pubmed-article:21722859 | pubmed:author | pubmed-author:HeSudanS | lld:pubmed |
| pubmed-article:21722859 | pubmed:author | pubmed-author:LuYanpingY | lld:pubmed |
| pubmed-article:21722859 | pubmed:copyrightInfo | Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. | lld:pubmed |
| pubmed-article:21722859 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:21722859 | pubmed:day | 15 | lld:pubmed |
| pubmed-article:21722859 | pubmed:volume | 89 | lld:pubmed |
| pubmed-article:21722859 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:21722859 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:21722859 | pubmed:pagination | 56-66 | lld:pubmed |
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| pubmed-article:21722859 | pubmed:year | 2011 | lld:pubmed |
| pubmed-article:21722859 | pubmed:articleTitle | Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64. | lld:pubmed |
| pubmed-article:21722859 | pubmed:affiliation | Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China. | lld:pubmed |
| pubmed-article:21722859 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:21722859 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:21722859 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| pubmed-article:21722859 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
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| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:21722859 | lld:entrezgene |
