biostudies-literatureBeryozkin AThe German Research Council/DFG in the frame of the SPP SPP2127Israeli Ministry of HealthThe German Research Council/DFG in the frame of the SPP SPP2127 -3541https://www.ebi.ac.uk/biostudies/studies/S-EPMC8998412biostudies-literatureUnknown23(7)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 pInternational journal of molecular sciencesTranslational 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>.PMC8998412FAUNUSHER20203-14995NA1398/1-1Beryozkin ASharon DGopalakrishnan PNagel-Wolfrum KKhateb SSamanta ABanin EfalseTranslational 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>.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 p2022-01-01T00:00:00Z2022 Mar2026-06-19T03:12:34.84Z2024-11-10T08:49:44.913ZS-EPMC89984123540889810.3390/ijms23073541