Identification of a PRPF4 Loss-of-Function Variant That Abrogates U4/U6.U5 Tri-snRNP Integration and Is Associated with Retinitis Pigmentosa

Pre-mRNA splicing by the spliceosome is an essential step in the maturation of nearly all human mRNAs. Mutations in six spliceosomal proteins, PRPF3, PRPF4, PRPF6, PRPF8, PRPF31 and SNRNP200, cause retinitis pigmentosa (RP), a disease characterized by progressive photoreceptor degeneration. All spli...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:PLoS One
Prif Awduron: Linder, Bastian, Hirmer, Anja, Gal, Andreas, Rüther, Klaus, Bolz, Hanno Jörn, Winkler, Christoph, Laggerbauer, Bernhard, Fischer, Utz
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2014
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4226509/
https://ncbi.nlm.nih.gov/pubmed/25383878
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0111754
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