A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult

The autosomal dominant spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of disorders exhibiting cerebellar atrophy and Purkinje cell degeneration whose subtypes arise from 31 distinct genetic loci. Our group previously published the locus for SCA26 on chromosome 19p13.3. In this...

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Main Authors: Hekman, Katherine E., Yu, Guo-Yun, Brown, Christopher D., Zhu, Haipeng, Du, Xiaofei, Gervin, Kristina, Undlien, Dag Erik, Peterson, April, Stevanin, Giovanni, Clark, H. Brent, Pulst, Stefan M., Bird, Thomas D., White, Kevin P., Gomez, Christopher M.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2012
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3516132/
https://ncbi.nlm.nih.gov/pubmed/23001565
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds392
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