Llwytho...

β-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi

Spinocerebellar ataxia type 5 (SCA5) is an autosomal dominant neurodegenerative disorder caused by mutations in β-III spectrin. A mouse lacking full-length β-III spectrin has a phenotype closely mirroring symptoms of SCA5 patients. Here we report the analysis of heterozygous animals, which show no s...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Clarkson, Yvonne L., Gillespie, Trudi, Perkins, Emma M., Lyndon, Alastair R., Jackson, Mandy
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2010
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2928133/
https://ncbi.nlm.nih.gov/pubmed/20603325
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq279
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