Abstract:
:Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disease caused by the expansion of a polyglutamine tract within the SCA1 product, ataxin-1. Previously, using transgenic mice, it was demonstrated that in order for a mutant allele of ataxin-1 to cause disease it must be transported to the nucleus of the neuron. Using an in vitro RNA-binding assay, we demonstrate that ataxin-1 does bind RNA and that this binding diminishes as the length of its polyglutamine tract increases. These observations suggest that ataxin-1 plays a role in RNA metabolism and that the expansion of the polyglutamine tract may alter this function.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Yue S,Serra HG,Zoghbi HY,Orr HTdoi
10.1093/hmg/10.1.25subject
Has Abstractpub_date
2001-01-01 00:00:00pages
25-30issue
1eissn
0964-6906issn
1460-2083journal_volume
10pub_type
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