{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Nazlamova L"],"funding":["NIHR BioResource","National Institute for Health Research (NIHR)","Sight Research UK","Wellcome Trust","Academy of Medical Sciences"],"pagination":["1009430"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9513239"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["13"],"pubmed_abstract":["Retinitis pigmentosa (RP) is the most common cause of hereditary blindness, and may occur in isolation as a non-syndromic condition or alongside other features in a syndromic presentation. Biallelic or monoallelic mutations in one of eight genes encoding pre-mRNA splicing factors are associated with non-syndromic RP. The molecular mechanism of disease remains incompletely understood, limiting opportunities for targeted treatment. Here we use CRISPR and base edited <i>PRPF6</i> and <i>PRPF31</i> mutant cell lines, and publicly-available data from human <i>PRPF31</i> <sup><i>+/-</i></sup> patient derived retinal organoids and <i>PRPF31</i> siRNA-treated organotypic retinal cultures to confirm an enrichment of differential splicing of microtubule, centrosomal, cilium and DNA damage response p"],"journal":["Frontiers in genetics"],"pubmed_title":["Microtubule modification defects underlie cilium degeneration in cell models of retinitis pigmentosa associated with pre-mRNA splicing factor mutations."],"pmcid":["PMC9513239"],"funding_grant_id":["SBF004\\1038","RP-2016-07-011","204378/Z/16/Z"],"pubmed_authors":["Wheway G","Karthik V","Lakowski J","Nazlamova L","Villa Vasquez SS","Cheung MK","Lord J"],"additional_accession":[]},"is_claimable":false,"name":"Microtubule modification defects underlie cilium degeneration in cell models of retinitis pigmentosa associated with pre-mRNA splicing factor mutations.","description":"Retinitis pigmentosa (RP) is the most common cause of hereditary blindness, and may occur in isolation as a non-syndromic condition or alongside other features in a syndromic presentation. Biallelic or monoallelic mutations in one of eight genes encoding pre-mRNA splicing factors are associated with non-syndromic RP. The molecular mechanism of disease remains incompletely understood, limiting opportunities for targeted treatment. Here we use CRISPR and base edited <i>PRPF6</i> and <i>PRPF31</i> mutant cell lines, and publicly-available data from human <i>PRPF31</i> <sup><i>+/-</i></sup> patient derived retinal organoids and <i>PRPF31</i> siRNA-treated organotypic retinal cultures to confirm an enrichment of differential splicing of microtubule, centrosomal, cilium and DNA damage response p","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022","modification":"2026-05-08T03:12:39.119Z","creation":"2025-02-19T00:34:59.255Z"},"accession":"S-EPMC9513239","cross_references":{"pubmed":["36176300"],"doi":["10.3389/fgene.2022.1009430"]}}