PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects.

doi:10.1038/s41467-024-47253-0

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Article

PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects.

Nature communications - 11 Apr 2024

Atkinson Robert, Georgiou Maria, Yang Chunbo, Szymanska Katarzyna, Lahat Albert, Vasconcelos Elton J R, Ji Yanlong, Moya Molina Marina, Collin Joseph, Queen Rachel, Dorgau Birthe, Watson Avril, Kurzawa-Akanbi Marzena, Laws Ross, Saxena Abhijit, Shyan Beh Chia, Siachisumo Chileleko, Goertler Franziska, Karwatka Magdalena, Davey Tracey, Inglehearn Chris F, McKibbin Martin, Lührmann Reinhard, Steel David H, Elliott David J, Armstrong Lyle, Urlaub Henning, Ali Robin R, Grellscheid Sushma-Nagaraja, Johnson Colin A, Mozaffari-Jovin Sina, Lako Majlinda

Abstract excerpt

The carboxy-terminus of the spliceosomal protein PRPF8, which regulates the RNA helicase Brr2, is a hotspot for mutations causing retinitis pigmentosa-type 13, with unclear role in human splicing and tissue-specificity mechanism. We used patient induced pluripotent stem cells-derived cells, carrying the heterozygous PRPF8 c.6926 A > C (p.H2309P) mutation to demonstrate retinal-specific endophenotypes comprising...

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PMID: 38605034
DOI: 10.1038/s41467-024-47253-0
PMCID: PMC11009313

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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