Title : Spinocerebellar ataxia type 2: clinical presentation, molecular mechanisms, and therapeutic perspectives.

Pub. Date : 2013 Feb

PMID : 22996397






2 Functional Relationships(s)
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1 SCA2, one of the most common ataxias worldwide, is caused by the expansion of a CAG triplet repeat located in the N-terminal coding region of the ATXN2 gene, which results in the incorporation of a segment of polyglutamines in the mutant protein, being longer expansions associated with earlier onset and more sever disease in subsequent generations. polyglutamine ataxin 2 Homo sapiens
2 SCA2, one of the most common ataxias worldwide, is caused by the expansion of a CAG triplet repeat located in the N-terminal coding region of the ATXN2 gene, which results in the incorporation of a segment of polyglutamines in the mutant protein, being longer expansions associated with earlier onset and more sever disease in subsequent generations. polyglutamine ataxin 2 Homo sapiens