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Article

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

5 Jul 2010

Abstract excerpt

Spinocerebellar ataxia type 5 (SCA5) is an autosomal dominant neurodegenerative disorder caused by mutations in beta-III spectrin. A mouse lacking full-length beta-III spectrin has a phenotype closely mirroring symptoms of SCA5 patients. Here we report the analysis of heterozygous animals, which show no signs of ataxia or cerebellar degeneration up to 2 years of age. This argues against haploinsufficiency as a...

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PMID: 20603325
DOI: 10.1093/hmg/ddq279

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