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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...

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Detalles Bibliográficos
Autores principales:	Linder, Bastian, Hirmer, Anja, Gal, Andreas, Rüther, Klaus, Bolz, Hanno Jörn, Winkler, Christoph, Laggerbauer, Bernhard, Fischer, Utz
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4226509/ https://www.ncbi.nlm.nih.gov/pubmed/25383878 http://dx.doi.org/10.1371/journal.pone.0111754

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