|
Retinitis Pigmentosa 13
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.
|
24938718 |
2014 |
|
Retinitis Pigmentosa 13
|
0.920 |
Biomarker
|
disease |
MGD |
Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration.
|
20811066 |
2011 |
|
Retinitis Pigmentosa 13
|
0.920 |
GeneticVariation
|
disease |
BEFREE |
Genes coding for components of the U4/U6.U5 tri small nuclear ribonucleoprotein (tri-snRNP) complex of the spliceosome stand out, because mutations in four genes cause RP, i.e., RP9 (PAP1), RP11 (PRPF31), RP13 (PRPF8), and RP18 (PRPF3), while there is no degeneration outside the retina despite global expression of these genes.
|
18334927 |
2008 |
|
Retinitis Pigmentosa 13
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
Structure of a multipartite protein-protein interaction domain in splicing factor prp8 and its link to retinitis pigmentosa.
|
17317632 |
2007 |
|
Retinitis Pigmentosa 13
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.
|
12714658 |
2003 |
|
Retinitis Pigmentosa 13
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13).
|
11910553 |
2002 |
|
Retinitis Pigmentosa 13
|
0.920 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).
|
11468273 |
2001 |
|
Retinitis Pigmentosa 13
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).
|
11468273 |
2001 |
|
Retinitis Pigmentosa 13
|
0.920 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Retinitis Pigmentosa 13
|
0.920 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Retinitis Pigmentosa 13
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Retinitis Pigmentosa 13
|
0.920 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Retinitis Pigmentosa
|
0.500 |
Biomarker
|
disease |
BEFREE |
Thus, these findings demonstrate that PRPF8 is essential for mitophagy and suggest that dysregulation of spliceosome-mediated mitophagy may contribute to pathogenesis of retinitis pigmentosa.
|
30103670 |
2018 |
|
Retinitis Pigmentosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We further found that PRPF8 mutants causing Retinitis pigmentosa assemble less efficiently with the U5 snRNP and bind more strongly to R2TP, with one mutant retained in the cytoplasm in an R2TP-dependent manner.
|
28515276 |
2017 |
|
Retinitis Pigmentosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our results implicate the transition between the first and second catalytic steps as a critical place in the splicing cycle where Prp8-RP mutants influence splicing efficiency.
|
26968627 |
2016 |
|
Retinitis Pigmentosa
|
0.500 |
Biomarker
|
disease |
BEFREE |
When stimulated by Prp8, wild type Δ247-Brr2 is able to unwind long stable duplexes in vitro, and even the RP mutants capable of binding RNA with tight affinity are incapable of fully unwinding short duplex RNAs.
|
27072132 |
2016 |
|
Retinitis Pigmentosa
|
0.500 |
Biomarker
|
disease |
BEFREE |
PRPF8 deficiency is linked to human diseases like retinitis pigmentosa or myeloid neoplasia, but its genome-wide effects on constitutive and alternative splicing remain unclear.
|
26392272 |
2015 |
|
Retinitis Pigmentosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ubiquitously expressed pre-mRNA processing factors 3, 8, and 31 (PRPF3, PRPF8, and PRPF31) cause nonsyndromic dominant retinitis pigmentosa in humans, an inherited retinal degeneration.
|
25111227 |
2014 |
|
Retinitis Pigmentosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Although these spliceosomal proteins are conserved in eukaryotes and are essential for survival, heterozygous mutations in human RP-PRPF genes lead to retinitis pigmentosa, a hereditary disease restricted to the eye.
|
21378395 |
2011 |
|
Retinitis Pigmentosa
|
0.500 |
Biomarker
|
disease |
BEFREE |
Clinical data for 75 PRPF8-RP patients were compared, revealing that while the effect on peripheral retinal function is severe, patients generally retain good visual acuity in at least one eye until the fifth or sixth decade.
|
20232351 |
2010 |
|
Retinitis Pigmentosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Notably, U4/U6 unwinding activity is not stimulated by fragments carrying alleles of prp8 that in humans confers an autosomal dominant form of retinitis pigmentosa.
|
19098916 |
2009 |
|
Retinitis Pigmentosa
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Phenotypic expression of a PRPF8 gene mutation in a Large African American family.
|
18695108 |
2008 |
|
Retinitis Pigmentosa
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
The aim of this study was to use lymphoblast cell lines derived from RP patients to determine whether mutations in two of these splicing factors, PRPF8 and PRPF31, cause measurable deficiencies in pre-mRNA splicing.
|
19096719 |
2008 |
|
Retinitis Pigmentosa
|
0.500 |
Biomarker
|
disease |
BEFREE |
We conclude that the expanded Prp8 Jab1/MPN domain represents a pseudoenzyme converted into a protein-protein interaction platform and that dysfunction of this platform underlies Retinitis pigmentosa.
|
17317632 |
2007 |
|
Retinitis Pigmentosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Although it is ubiquitously expressed, mutations in the C terminus of human Prp8p cause the retina-specific disease retinitis pigmentosa (RP).
|
17934474 |
2007 |