| pubmed-article:19953606 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:19953606 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:19953606 | lifeskim:mentions | umls-concept:C0016719 | lld:lifeskim |
| pubmed-article:19953606 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:19953606 | lifeskim:mentions | umls-concept:C0031437 | lld:lifeskim |
| pubmed-article:19953606 | lifeskim:mentions | umls-concept:C1416558 | lld:lifeskim |
| pubmed-article:19953606 | lifeskim:mentions | umls-concept:C2603343 | lld:lifeskim |
| pubmed-article:19953606 | lifeskim:mentions | umls-concept:C0439799 | lld:lifeskim |
| pubmed-article:19953606 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:19953606 | pubmed:dateCreated | 2010-2-1 | lld:pubmed |
| pubmed-article:19953606 | pubmed:abstractText | We recently identified KCNC3, encoding the Kv3.3 voltage-gated potassium channel, as the gene mutated in SCA13. One g.10684G>A (p.Arg420His) mutation caused late-onset ataxia resulting in a nonfunctional channel subunit with dominant-negative properties. A French early-onset pedigree with mild mental retardation segregated a g.10767T>C (p.Phe448Leu) mutation. This mutation changed the relative stability of the channel's open conformation. Coding exons were amplified and sequenced in 260 autosomal-dominant ataxia index cases of European descent. Functional analyses were performed using expression in Xenopus oocytes. The previously identified p.Arg420His mutation occurred in three families with late-onset ataxia. A novel mutation g.10693G>A (p.Arg423His) was identified in two families with early-onset. In one pedigree, a novel g.10522G>A (p.Arg366His) sequence variant was seen in one index case but did not segregate with affected status in the respective family. In a heterologous expression system, the p.Arg423His mutation exhibited dominant-negative properties. The p.Arg420His mutation, which results in a nonfunctional channel subunit, was recurrent and associated with late-onset progressive ataxia. In two families the p.Arg423His mutation was associated with early-onset slow-progressive ataxia. Despite a phenotype reminiscent of the p.Phe448Leu mutation, segregating in a large early-onset French pedigree, the p.Arg423His mutation resulted in a nonfunctional subunit with a strong dominant-negative effect. | lld:pubmed |
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| pubmed-article:19953606 | pubmed:language | eng | lld:pubmed |
| pubmed-article:19953606 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19953606 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:19953606 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:19953606 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:19953606 | pubmed:issn | 1098-1004 | lld:pubmed |
| pubmed-article:19953606 | pubmed:author | pubmed-author:DürrAlexandra... | lld:pubmed |
| pubmed-article:19953606 | pubmed:author | pubmed-author:BriceAlexisA | lld:pubmed |
| pubmed-article:19953606 | pubmed:author | pubmed-author:StevaninGiova... | lld:pubmed |
| pubmed-article:19953606 | pubmed:author | pubmed-author:ForlaniSylvie... | lld:pubmed |
| pubmed-article:19953606 | pubmed:author | pubmed-author:BürkKatrinK | lld:pubmed |
| pubmed-article:19953606 | pubmed:author | pubmed-author:PapazianDiane... | lld:pubmed |
| pubmed-article:19953606 | pubmed:author | pubmed-author:PulstStefan... | lld:pubmed |
| pubmed-article:19953606 | pubmed:author | pubmed-author:WatersMichael... | lld:pubmed |
| pubmed-article:19953606 | pubmed:author | pubmed-author:FigueroaKarla... | lld:pubmed |
| pubmed-article:19953606 | pubmed:author | pubmed-author:MinassianNata... | lld:pubmed |
| pubmed-article:19953606 | pubmed:author | pubmed-author:StrzelczykAda... | lld:pubmed |
| pubmed-article:19953606 | pubmed:author | pubmed-author:GaribyanVarta... | lld:pubmed |
| pubmed-article:19953606 | pubmed:copyrightInfo | (c) 2009 Wiley-Liss, Inc. | lld:pubmed |
| pubmed-article:19953606 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:19953606 | pubmed:volume | 31 | lld:pubmed |
| pubmed-article:19953606 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:19953606 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:19953606 | pubmed:pagination | 191-6 | lld:pubmed |
| pubmed-article:19953606 | pubmed:dateRevised | 2011-7-22 | lld:pubmed |
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| pubmed-article:19953606 | pubmed:year | 2010 | lld:pubmed |
| pubmed-article:19953606 | pubmed:articleTitle | KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients. | lld:pubmed |
| pubmed-article:19953606 | pubmed:affiliation | Department of Neurology, University of Utah, Salt Lake City, Utah, USA. | lld:pubmed |
| pubmed-article:19953606 | pubmed:publicationType | Journal Article | lld:pubmed |
| entrez-gene:3748 | entrezgene:pubmed | pubmed-article:19953606 | lld:entrezgene |
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