Article

Genetic<i>SNUPN</i>variants cause spinocerebellar atrophy by disrupting global splicing in Purkinje cells

2024-07-12

Abstract excerpt

We identified genetic variants in the SNUPN gene, which encodes the adapter protein snurportin-1 for the nuclear import of U1 snRNPs, in two families affected by spinocerebellar ataxia. We have elucidated the pathogenicity of these variants and the molecular pathomechanisms underlying this disease by assessing mutant snurportin-1 properties in vitro , cerebella at the morphological and molecular levels ex vivo , a...

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Literature Corpus work: f81fd61b-9adf-59fc-ab1f-a9de523257e6
DOI: 10.1101/2024.07.11.24310169

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