Mutant β-III Spectrin Causes mGluR1α Mislocalization and Functional Deficits in a Mouse Model of Spinocerebellar Ataxia Type 5

Spinocerebellar ataxia type 5 (SCA5), a dominant neurodegenerative disease characterized by profound Purkinje cell loss, is caused by mutations in SPTBN2, a gene that encodes β-III spectrin. SCA5 is the first neurodegenerative disorder reported to be caused by mutations in a cytoskeletal spectrin ge...

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Hauptverfasser: Armbrust, Karen R., Wang, Xinming, Hathorn, Tyisha J., Cramer, Samuel W., Chen, Gang, Zu, Tao, Kangas, Takashi, Zink, Anastasia N., Öz, Gülin, Ebner, Timothy J., Ranum, Laura P. W.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Society for Neuroscience 2014
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Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4107406/
https://ncbi.nlm.nih.gov/pubmed/25057192
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.0876-14.2014
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