Loss of β-III Spectrin Leads to Purkinje Cell Dysfunction Recapitulating the Behavior and Neuropathology of Spinocerebellar Ataxia Type 5 in Humans

Mutations in SPTBN2, the gene encoding β-III spectrin, cause spinocerebellar ataxia type 5 in humans (SCA5), a neurodegenerative disorder resulting in loss of motor coordination. How these mutations give rise to progressive ataxia and what the precise role β-III spectrin plays in normal cerebellar p...

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Main Authors: Perkins, Emma M., Clarkson, Yvonne L., Sabatier, Nancy, Longhurst, David M., Millward, Christopher P., Jack, Jennifer, Toraiwa, Junko, Watanabe, Mitsunori, Rothstein, Jeffrey D., Lyndon, Alastair R., Wyllie, David J. A., Dutia, Mayank B., Jackson, Mandy
Formato: Artigo
Idioma:Inglês
Publicado: Society for Neuroscience 2010
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Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2857506/
https://ncbi.nlm.nih.gov/pubmed/20371805
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.6065-09.2010
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