prp8 mutations that cause human Retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast

Prp8 protein is a highly conserved pre-mRNA splicing factor and a component of spliceosomal U5 snRNPs. Intriguingly, although it is ubiquitously expressed, mutations in the C-terminus of human Prp8p cause the retina-specific disease Retinitis pigmentosa (RP). The biogenesis of U5 snRNPs is poorly ch...

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Hlavní autoři: Boon, Kum-Loong, Grainger, Richard J., Ehsani, Parastoo, Barrass, J. David, Auchynnikava, Tatsiana, Inglehearn, Chris F., Beggs, Jean D.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2007
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2584834/
https://ncbi.nlm.nih.gov/pubmed/17934474
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nsmb1303
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