Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond
Mutations in pre-mRNA processing factors (PRPF3, 4, 6, 8, 31, SNRNP200, and RP9) have been linked to 15–20% of autosomal dominant RP cases.
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Jan 21, 2021
SNRNP200 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
The SNRNP200 gene plays a key role in the maturation of pre-mRNA splicing with the indication for the etiology of retinitis pigmentosa (RP).
Mar 22, 2020
Approaches to Characterize novel pathogenic missense Variants in PRPF31
RP, classified as a rare disease, is the most common cause of inherited blindness worldwide, affecting 1:3500, but extremely heterogeneous.
Jul 1, 2019
Retinitis pigmentosa caused by variants in SNRNP200
SNRNP200 is a gene recently identified as a cause of autosomal dominant retinitis pigmentosa (RP).
Nov 25, 2016
Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa
Zilin Zhong , Min Yan , Wan Sun , Zehua Wu , Liyun Han , Zheng Zhou , Fang Zheng , Jianjun Chen | Scientific Reports | 6 | 37840 | 25...
Jul 30, 2011
Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa
RP mutations have also been identified in a group of housekeeping genes that are involved in pre-mRNA splicing and represent . . .
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