Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy or transcriptional dysregulation. The multifaceted aspects of a single mutation.

Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy or transcriptional dysregulation. The multifaceted aspects of a single mutation.

Spinocerebellar Ataxia type 6 is an autosomal dominant neurodegenerative disease characterized by late onset, slowly progressive, mostly pure cerebellar ataxia. It is one of three allelic disorders associated to CACNA1A gene, coding for the Alpha1 A subunit of P/Q type calcium channel Cav2.1 express...

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Bibliographic Details
Main Authors: Paola eGiunti, Elide eMantuano, Marina eFrontali, Liana eVeneziano
Format: Article
Language:English
Published: Frontiers Media S.A. 2015-02-01
Series:Frontiers in Cellular Neuroscience
Subjects:
CACNA1A
channelopathy
polyglutamine disorder
Spinocerebellar ataxia type 6
CaV2.1
P/Q type calcium channel
Online Access:http://journal.frontiersin.org/Journal/10.3389/fncel.2015.00036/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fncel.2015.00036/full

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