Article

SANS (USH1G) regulates pre-mRNA splicing by mediating the intra-nuclear transfer of tri-snRNP complexes

2020-11-11

Abstract excerpt

Splicing is catalyzed by the spliceosome, a compositionally dynamic complex assembled stepwise on pre-mRNA. We reveal links between splicing machinery components with the intrinsically disordered ciliopathy protein SANS. Pathogenic mutations in SANS/USH1G lead to Usher syndrome – the most common cause of deaf-blindness. SANS functions have been associated with cytoplasmic processes so far. Here, we reveal molecul...

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Literature Corpus work: 6b2753a9-b502-5b61-9600-46448defa49e
DOI: 10.1101/2020.11.11.378448

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