Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis

Balogh, E; Chandler, JC; Varga, M; Tahoun, M; Menyhárd, DK; Schay, G; Goncalves, T; Hamar, R; Légrádi, R; Szekeres, Á; Gribouval, O; Kleta, R; Stanescu, H; Bockenhauer, D; Kerti, A; Williams, H; Kinsler, V; Di, W-L; Curtis, D; Kolatsi-Joannou, M; Hammid, H; Szőcs, A; Perczel, K; Maka, E; Toldi, G; Sava, F; Arrondel, C; Kardos, M; Fintha, A; Hossain, A; D’Arco, F; Kaliakatsos, M; Koeglmeier, J; Mifsud, W; Moosajee, M; Faro, A; Jávorszky, E; Rudas, G; Saied, MH; Marzouk, S; Kelen, K; Götze, J; Reusz, G; Tulassay, T; Dragon, F; Mollet, G; Motameny, S; Thiele, H; Dorval, G; Nürnberg, P; Perczel, A; Szabó, AJ; Long, DA; Tomita, K; Antignac, C; Waters, AM; Tory, K

Please use this identifier to cite or link to this item: http://bura.brunel.ac.uk/handle/2438/21100

Title:	Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis
Authors:	Balogh, E Chandler, JC Varga, M Tahoun, M Menyhárd, DK Schay, G Goncalves, T Hamar, R Légrádi, R Szekeres, Á Gribouval, O Kleta, R Stanescu, H Bockenhauer, D Kerti, A Williams, H Kinsler, V Di, W-L Curtis, D Kolatsi-Joannou, M Hammid, H Szőcs, A Perczel, K Maka, E Toldi, G Sava, F Arrondel, C Kardos, M Fintha, A Hossain, A D’Arco, F Kaliakatsos, M Koeglmeier, J Mifsud, W Moosajee, M Faro, A Jávorszky, E Rudas, G Saied, MH Marzouk, S Kelen, K Götze, J Reusz, G Tulassay, T Dragon, F Mollet, G Motameny, S Thiele, H Dorval, G Nürnberg, P Perczel, A Szabó, AJ Long, DA Tomita, K Antignac, C Waters, AM Tory, K
Keywords:	Pseudouridylation;H/ACA snoRNP;Pediatrics;Telomerer;RNA
Issue Date:	17-Jun-2020
Publisher:	Proceedings of the National Academy of Sciences
Citation:	Eszter Balogh, Jennifer C. Chandler, Máté Varga, Mona Tahoun, Dóra K. Menyhárd, Gusztáv Schay, Tomas Goncalves, Renáta Hamar, Regina Légrádi, Ákos Szekeres, Olivier Gribouval, Robert Kleta, Horia Stanescu, Detlef Bockenhauer, Andrea Kerti, Hywel Williams, Veronica Kinsler, Wei-Li Di, David Curtis, Maria Kolatsi-Joannou, Hafsa Hammid, Anna Szőcs, Kristóf Perczel, Erika Maka, Gergely Toldi, Florentina Sava, Christelle Arrondel, Magdolna Kardos, Attila Fintha, Ahmed Hossain, Felipe D’Arco, Mario Kaliakatsos, Jutta Koeglmeier, William Mifsud, Mariya Moosajee, Ana Faro, Eszter Jávorszky, Gábor Rudas, Marwa H. Saied, Salah Marzouk, Kata Kelen, Judit Götze, George Reusz, Tivadar Tulassay, François Dragon, Géraldine Mollet, Susanne Motameny, Holger Thiele, Guillaume Dorval, Peter Nürnberg, András Perczel, Attila J. Szabó, David A. Long, Kazunori Tomita, Corinne Antignac, Aoife M. Waters, Kálmán Tory; Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis; Proceedings of the National Academy of Sciences Jun 2020, 202002328;
URI:	http://bura.brunel.ac.uk/handle/2438/21100
DOI:	http://dx.doi.org/10.1073/pnas.2002328117
ISSN:	0027-8424
Appears in Collections:	Dept of Life Sciences Embargoed Research Papers

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