The modulation of Amyotrophic Lateral Sclerosis risk by Ataxin-2 intermediate polyglutamine expansions is a specific effect
The modulation of Amyotrophic Lateral Sclerosis risk by Ataxin-2 intermediate polyglutamine expansions is a specific effect
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DOI：
10.1016/j.nbd.2011.08.021
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发表时间：
2012-01-01
影响因子：
6.1
通讯作者：
Auburger, Georg
中科院分区：
文献类型：
--
作者：
Gispert, Suzana;Kurz, Alexander;Auburger, Georg
多聚体相关蛋白共济失调蛋白-2（ATXN 2）内多聚谷氨酰胺结构域（polyQ >= 34）的完全扩增是多系统神经退行性疾病的原因，其通常表现为脊髓小脑共济失调，因此被称为SCA 2，但可能很少表现为左旋多巴反应性帕金森综合征或运动神经元疾病。中间扩展（27
Full expansions of the polyglutamine domain (polyQ >= 34) within the polysome-associated protein ataxin-2 (ATXN2) are the cause of a multi-system neurodegenerative disorder, which usually presents as a Spino-Cerebellar Ataxia and is therefore known as SCA2, but may rarely manifest as Levodopa-responsive Parkinson syndrome or as motor neuron disease. Intermediate expansions (27