Article

The minor and major spliceosome interact to regulate alternative splicing around minor introns

2020-05-19

Abstract excerpt

Mutations in minor spliceosome components are linked to diseases such as Roifman syndrome, Lowry-Wood syndrome, and early-onset cerebellar ataxia (EOCA). Here we report that besides increased minor intron retention, Roifman syndrome and EOCA can also be characterized by elevated alternative splicing (AS) around minor introns. Consistent with the idea that the assembly/activity of the minor spliceosome informs AS i...

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Literature Corpus work: 507a555e-d489-554b-875a-5760ede4ca19
DOI: 10.1101/2020.05.18.101246

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