Erschienen in:
01.09.2011 | Correspondence
Spinocerebellar ataxia type 2 (SCA2) is associated with TDP-43 pathology
verfasst von:
Yasuko Toyoshima, Hajime Tanaka, Mitsuteru Shimohata, Kakuhei Kimura, Takashi Morita, Akiyoshi Kakita, Hitoshi Takahashi
Erschienen in:
Acta Neuropathologica
|
Ausgabe 3/2011
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Excerpt
Abnormality of the nuclear protein TDP-43 is associated with amyotrophic lateral sclerosis (ALS), a usually sporadic, fatal neurological disease. Recently, the yeast ortholog of ataxin 2, Pbp 1, was shown to enhance the toxicity of TDP-43 [
1], and ataxin 2 intermediate-length polyglutamine (polyQ) expansions were found to be associated with ALS [
1,
2]. Ataxin 2 is a polyQ protein that is mutated in spinocerebellar ataxia type 2 (SCA2), an autosomal-dominant neurological disease, by an expansion of CAG repeats in the SCA2 gene (
ATXN2). …