Article
Retinitis pigmentosa-linked mutations impair the snRNA unwinding activity of SNRNP200 and reduce pre-mRNA binding of PRPF8.
Cellular and molecular life sciences : CMLS - 5 Mar 2025
Zimmann Felix, McNicoll Francois, Thakur Prasoon Kumar, Blažíková Michaela, Kubovčiak Jan, Hernández Cañás María Clara, Nováková Zora, Bařinka Cyril, Kolář Michal, Staněk David, Müller-McNicoll Michaela, Cvačková Zuzana
Abstract excerpt
Retinitis pigmentosa (RP) is a hereditary disorder caused by mutations in more than 70 different genes including those that encode proteins important for pre-mRNA splicing. Most RP-associated mutations in splicing factors reduce either their expression, stability or incorporation into functional splicing complexes. However, we have previously shown that two RP mutations in PRPF8 (F2314L and Y2334N) and two in...
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