Article

Blood and cerebellar abundance of <i>ATXN3</i> splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease

2023-04-23

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease (MJD) is an autosomal dominant polyglutamine disease. SCA3/MJD causative gene, ATXN3 , is known to undergo alternative splicing (AS) and 54 transcripts are currently annotated. Differences in the toxicity of ataxin-3 protein isoforms, harbouring on its C-terminus two or three ubiquitin interacting motifs (UIMs), we...

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Literature Corpus work: 9ad81da8-eadb-5eee-84d4-5b471df73fbe
DOI: 10.1101/2023.04.22.537936

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