Associated Papers
Decoding retinitis pigmentosa: molecular targets and therapy with focus on pre-mRNA splicing.
Banik P et al.
Cellular and Molecular Life Sciences : Cmls, 2025
Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.
Jiang Y et al.
Biomolecules, 2025
PRPF31-retinitis pigmentosa: Challenges and opportunities for clinical translation.
Aweidah H et al.
Vision Research, 2023
Retinal organoids provide unique insights into molecular signatures of inherited retinal disease throughout retinogenesis.
Watson A et al.
Journal of Anatomy, 2023
Retinitis pigmentosa-associated mutations in mouse Prpf8 cause misexpression of circRNAs and degeneration of cerebellar granule cells.
Krausová M et al.
Life Science Alliance, 2023
Gene augmentation prevents retinal degeneration in a CRISPR/Cas9-based mouse model of PRPF31 retinitis pigmentosa.
Xi Z et al.
Nature Communications, 2022
Cilia regeneration requires an RNA splicing factor from the ciliary base.
Xu K et al.
Cell Regeneration (london, England), 2022
Aberrant Retinal Pigment Epithelial Cells Derived from Induced Pluripotent Stem Cells of a Retinitis Pigmentosa Patient with the PRPF6 Mutation.
Liang Y et al.
International Journal of Molecular Sciences, 2022
Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient-induced pluripotent stem cell-derived retinal pigment epithelium cells.
Georgiou M et al.
Clinical and Translational Medicine, 2022
The role of splicing factors in retinitis pigmentosa: links to cilia.
Maxwell DW et al.
Biochemical Society Transactions, 2021
Clinical Evidence for the Importance of the Wild-Type PRPF31 Allele in the Phenotypic Expression of RP11.
Roshandel D et al.
Genes, 2021
A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies.
Nazlamova L et al.
Human Genetics, 2021
The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease.
Aísa-Marín I et al.
International Journal of Molecular Sciences, 2021
NOPCHAP1 is a PAQosome cofactor that helps loading NOP58 on RUVBL1/2 during box C/D snoRNP biogenesis.
Abel Y et al.
Nucleic Acids Research, 2021
Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.
Wheway G et al.
Experimental Eye Research, 2020
Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins.
Valdés-Sánchez L et al.
Molecular Medicine (cambridge, Mass.), 2019
Identification of a novel pathogenic missense mutation in PRPF31 using whole exome sequencing: a case report.
Bryant L et al.
The British Journal of Ophthalmology, 2019
A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa.
Wheway G et al.
Frontiers in Genetics, 2019
Retinal Pigment Epithelial Cells: The Unveiled Component in the Etiology of Prpf Splicing Factor-Associated Retinitis Pigmentosa.
Hamieh A et al.
Advances in Experimental Medicine and Biology, 2019
A novel mutation in the PRPF31 in a North Indian adRP family with incomplete penetrance.
Bhatia S et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2018
snRNP proteins in health and disease.
Krausová M et al.
Seminars in Cell & Developmental Biology, 2018
Targeted Next Generation Sequencing Revealed Novel PRPF31 Mutations in Autosomal Dominant Retinitis Pigmentosa.
Xie D et al.
Genetic Testing and Molecular Biomarkers, 2018
Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives.
Dias MF et al.
Progress in Retinal and Eye Research, 2018
A novel mutation in PRPF31, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer.
Zheng Y et al.
International Journal of Ophthalmology, 2018
Formation of 53BP1 foci and ATM activation under oxidative stress is facilitated by RNA:DNA hybrids and loss of ATM-53BP1 expression promotes photoreceptor cell survival in mice.
Bhatia V et al.
F1000research, 2018
Mutations in spliceosomal proteins and retina degeneration.
Růžičková Š et al.
Rna Biology, 2017
NUFIP and the HSP90/R2TP chaperone bind the SMN complex and facilitate assembly of U4-specific proteins.
Bizarro J et al.
Nucleic Acids Research, 2015
Alternative splicing and retinal degeneration.
Liu MM et al.
Clinical Genetics, 2013
A novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration.
Lu F et al.
Plos One, 2013
A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family.
Saini S et al.
Experimental Eye Research, 2012
Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa.
Yin J et al.
Molecular Neurodegeneration, 2011
Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa.
Linder B et al.
Human Molecular Genetics, 2011
Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration.
Graziotto JJ et al.
Investigative Ophthalmology & Visual Science, 2011
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.
Audo I et al.
Bmc Medical Genetics, 2010
Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP).
Bujakowska K et al.
Investigative Ophthalmology & Visual Science, 2009
A mutation linked to retinitis pigmentosa in HPRP31 causes protein instability and impairs its interactions with spliceosomal snRNPs.
Huranová M et al.
Human Molecular Genetics, 2009
Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31.
Wilkie SE et al.
Molecular Vision, 2008
Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.
Rio Frio T et al.
The Journal of Clinical Investigation, 2008
Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31.
Ghazawy S et al.
The British Journal of Ophthalmology, 2007
A study of the nuclear trafficking of the splicing factor protein PRPF31 linked to autosomal dominant retinitis pigmentosa (ADRP).
Wilkie SE et al.
Biochimica Et Biophysica Acta, 2006
[Novel splice-site mutation in the pre-mRNA splicing gene PRPF31 in a Chinese family with autosomal dominant retinitis pigmentosa].
Lu SS et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2005
Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells.
Yuan L et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2005
Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family.
Wang L et al.
American Journal of Medical Genetics. Part A, 2003
Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31.
Deery EC et al.
Human Molecular Genetics, 2002
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).
Vithana EN et al.
Molecular Cell, 2001