Article

ATXN2 polyglutamine expansion impairs QKI-dependent alternative splicing and oligodendrocyte maintenance

2025-08-09

Abstract excerpt

<h4>Background</h4> Polyglutamine (polyQ) tract expansion mutations in Ataxin-2 gene ( ATXN2 ) are associated with neurodegenerative diseases spinocerebellar ataxia type 2 (SCA2) and amyotrophic lateral sclerosis (ALS), while the therapeutic reduction of ATXN2 confers strong health-/lifespan extension in models of both disorders. Although the involvement of ATXN2 in peripheral lipid metabolism has been elaborate...

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Literature Corpus work: c48a9e5e-b357-578d-957e-6d36e6fd6a8b
DOI: 10.1101/2025.08.08.669189

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