Article
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Proceedings of the National Academy of Sciences of the United States of America - 30 Jun 2020
Balogh Eszter, Chandler Jennifer C, Varga Máté, Tahoun Mona, Menyhárd Dóra K, Schay Gusztáv, Goncalves Tomas, Hamar Renáta, Légrádi Regina, Szekeres Ákos, Gribouval Olivier, Kleta Robert, Stanescu Horia, Bockenhauer Detlef, Kerti Andrea, Williams Hywel, Kinsler Veronica, Di Wei-Li, Curtis David, Kolatsi-Joannou Maria, Hammid Hafsa, Szőcs Anna, Perczel Kristóf, Maka Erika, Toldi Gergely, Sava Florentina, Arrondel Christelle, Kardos Magdolna, Fintha Attila, Hossain Ahmed, D'Arco Felipe, Kaliakatsos Mario, Koeglmeier Jutta, Mifsud William, Moosajee Mariya, Faro Ana, Jávorszky Eszter, Rudas Gábor, Saied Marwa H, Marzouk Salah, Kelen Kata, Götze Judit, Reusz George, Tulassay Tivadar, Dragon François, Mollet Géraldine, Motameny Susanne, Thiele Holger, Dorval Guillaume, Nürnberg Peter, Perczel András, Szabó Attila J, Long David A, Tomita Kazunori, Antignac Corinne, Waters Aoife M, Tory Kálmán
Abstract excerpt
RNA modifications play a fundamental role in cellular function. Pseudouridylation, the most abundant RNA modification, is catalyzed by the H/ACA small ribonucleoprotein (snoRNP) complex that shares four core proteins, dyskerin (DKC1), NOP10, NHP2, and GAR1. Mutations in DKC1, NOP10, or NHP2 cause dyskeratosis congenita (DC), a disorder characterized by telomere attrition. Here, we report a phenotype comprising...
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