Article

A condensate forming tether for lariat debranching enzyme is defective in non-photosensitive trichothiodystrophy

2022-11-04

Abstract excerpt

<h4>Summary</h4> The pre-mRNA life cycle requires intron processing; yet, how intron processing defects influence splicing and gene expression is unclear. Here, we find TTDN1, which is frequently mutated in non-photosensitive trichothiodystrophy (NP-TTD), functionally links intron lariat processing to the spliceosome. The conserved TTDN1 C-terminal region directly binds lariat debranching enzyme DBR1, while its N...

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Literature Corpus work: 1575df4f-95b3-536c-9d5e-169cac8943e8
DOI: 10.1101/2022.11.03.515106

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