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Article

New alternative splicing variants of the ATXN2 transcript

2 Jul 2019

Abstract excerpt

BACKGROUND: Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant disorder with progressive degeneration of cerebellar Purkinje cells and selective loss of neurons in the brainstem. This neurodegenerative disorder is caused by the expansion of a polyglutamine domain in ataxin-2. Ataxin-2 is composed of 1312 amino acids, has a predicted molecular weight of 150-kDa and is widely expressed in neuronal and...

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PMID: 33324888
DOI: 10.1186/s42466-019-0025-1

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