{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Beryozkin A"],"funding":["The German Research Council/DFG in the frame of the SPP SPP2127","Israeli Ministry of Health","The German Research Council/DFG in the frame of the SPP SPP2127 -"],"pagination":["3541"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8998412"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["23(7)"],"pubmed_abstract":["Ataluren and Gentamicin are translational readthrough drugs (TRIDs) that induce premature termination codon (PTC) readthrough, resulting in the production of full-length proteins that usually harbor a single missense substitution. FAM161A is a ciliary protein which is expressed in photoreceptors, and pathogenic variants in this gene cause retinitis pigmentosa (RP). Applying TRIDs on fibroblasts from RP patients due to PTC in the <i>FAM161A</i> (p.Arg523*) gene may uncover whether TRIDs can restore expression, localization and function of this protein. Fibroblasts from six patients and five age-matched controls were starved prior to treatment with ataluren or gentamicin, and later FAM161A expression, ciliogenesis and cilia length were analyzed. In contrast to control cells, fibroblasts of p"],"journal":["International journal of molecular sciences"],"pubmed_title":["Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Termination Codon in <i>FAM161A</i>."],"pmcid":["PMC8998412"],"funding_grant_id":["FAUN","USHER2020","3-14995","NA1398/1-1"],"pubmed_authors":["Beryozkin A","Sharon D","Gopalakrishnan P","Nagel-Wolfrum K","Khateb S","Samanta A","Banin E"],"additional_accession":[]},"is_claimable":false,"name":"Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Termination Codon in <i>FAM161A</i>.","description":"Ataluren and Gentamicin are translational readthrough drugs (TRIDs) that induce premature termination codon (PTC) readthrough, resulting in the production of full-length proteins that usually harbor a single missense substitution. FAM161A is a ciliary protein which is expressed in photoreceptors, and pathogenic variants in this gene cause retinitis pigmentosa (RP). Applying TRIDs on fibroblasts from RP patients due to PTC in the <i>FAM161A</i> (p.Arg523*) gene may uncover whether TRIDs can restore expression, localization and function of this protein. Fibroblasts from six patients and five age-matched controls were starved prior to treatment with ataluren or gentamicin, and later FAM161A expression, ciliogenesis and cilia length were analyzed. In contrast to control cells, fibroblasts of p","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Mar","modification":"2026-06-19T03:12:34.84Z","creation":"2024-11-10T08:49:44.913Z"},"accession":"S-EPMC8998412","cross_references":{"pubmed":["35408898"],"doi":["10.3390/ijms23073541"]}}