Associated Papers
Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.
Jiang Y et al.
Biomolecules, 2025
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
Germline Variant Burden Warrants Universal Genetic Testing in Pediatric Myeloid Leukemia.
Harmon LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Mitophagy in the retina: Viewing mitochondrial homeostasis through a new lens.
Jiménez-Loygorri JI et al.
Progress in Retinal and Eye Research, 2023
Autophagy regulation by RNA alternative splicing and implications in human diseases.
González-Rodríguez P et al.
Nature Communications, 2022
LUBAC regulates ciliogenesis by promoting CP110 removal from the mother centriole.
Shen XL et al.
The Journal of Cell Biology, 2022
The role of splicing factors in retinitis pigmentosa: links to cilia.
Maxwell DW et al.
Biochemical Society Transactions, 2021
EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening.
Numa S et al.
Scientific Reports, 2020
A Drosophila model to study retinitis pigmentosa pathology associated with mutations in the core splicing factor Prp8.
Stanković D et al.
Disease Models & Mechanisms, 2020
Autosomal dominant retinitis pigmentosa-associated gene PRPF8 is essential for hypoxia-induced mitophagy through regulating ULK1 mRNA splicing.
Xu G et al.
Autophagy, 2018
Assembly of the U5 snRNP component PRPF8 is controlled by the HSP90/R2TP chaperones.
Malinová A et al.
The Journal of Cell Biology, 2017
Novel regulatory principles of the spliceosomal Brr2 RNA helicase and links to retinal disease in humans.
Mozaffari-Jovin S et al.
Rna Biology, 2014
Alternative splicing and retinal degeneration.
Liu MM et al.
Clinical Genetics, 2013
Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.
Maubaret CG et al.
Investigative Ophthalmology & Visual Science, 2011
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.
Towns KV et al.
Human Mutation, 2010
Crystal structure of the C-terminal domain of splicing factor Prp8 carrying retinitis pigmentosa mutants.
Zhang L et al.
Protein Science : a Publication of the Protein Society, 2007
Structure of a multipartite protein-protein interaction domain in splicing factor prp8 and its link to retinitis pigmentosa.
Pena V et al.
Molecular Cell, 2007
Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.
Martínez-Gimeno M et al.
Investigative Ophthalmology & Visual Science, 2003
Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13).
van Lith-Verhoeven JJ et al.
Ophthalmic Genetics, 2002
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).
McKie AB et al.
Human Molecular Genetics, 2001
Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions.
Escher P et al.
Ophthalmic Genetics, 0