PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption

Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by an expansion of a polyglutamine tract within the ATXN1 gene. Normal alleles have been reported to range from 6 to 35 repeats, intermediate alleles from 36 to 38 repeats and fully penetrant pathogenic a...

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Autori principali:	Suran Nethisinghe, Maria Lucia Pigazzini, Sally Pemble, Mary G. Sweeney, Robyn Labrum, Katarina Manso, David Moore, Jon Warner, Mary B. Davis, Paola Giunti
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Frontiers Media S.A. 2018-07-01
Serie:	Frontiers in Cellular Neuroscience
Soggetti:	PolyQ ataxia CAG repeat SCA1 neurodegeneration genetic counseling
Accesso online:	https://www.frontiersin.org/article/10.3389/fncel.2018.00200/full
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