A variant of Nesprin1 giant devoid of KASH domain underlies the molecular etiology of autosomal recessive cerebellar ataxia type I

A variant of Nesprin1 giant devoid of KASH domain underlies the molecular etiology of autosomal recessive cerebellar ataxia type I

Nonsense mutations across the whole coding sequence of Syne1/Nesprin1 have been linked to autosomal recessive cerebellar ataxia Type I (ARCA1). However, nothing is known about the molecular etiology of this late-onset debilitating pathology. In this work, we report that Nesprin1 giant is specificall...

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Bibliographic Details
Main Authors: David Razafsky, Didier Hodzic
Format: Article
Language:English
Published: Elsevier 2015-06-01
Series:Neurobiology of Disease
Subjects:
ARCA1
Autosomal recessive cerebellar ataxia Type I
Cerebellar granule neuron
Cerebellar mossy fiber
Cerebellum
KASH
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996115001059

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http://www.sciencedirect.com/science/article/pii/S0969996115001059

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