Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Felipe D'Arco"'
Autor:
Detlef Bockenhauer, François Dragon, Christelle Arrondel, Ákos Szekeres, Kristóf Perczel, Wei-Li Di, Susanne Motameny, Attila Fintha, Maria Kolatsi-Joannou, Eszter Jávorszky, Guillaume Dorval, Salah Marzouk, Kazunori Tomita, Jennifer C. Chandler, Peter Nürnberg, Gusztáv Schay, Veronica A. Kinsler, Ahmed Hossain, Andrea Kerti, András Perczel, Hafsa Hammid, Magdolna Kardos, William Mifsud, Florentina Sava, David Curtis, Corinne Antignac, Felipe D’Arco, Aoife M. Waters, Géraldine Mollet, Mona Tahoun, Gergely Toldi, Tivadar Tulassay, Ana Faro, Anna Szőcs, Jutta Koeglmeier, Kata Kelen, Marwa H. Saied, Holger Thiele, Hywel Williams, Kálmán Tory, Renáta Hamar, Erika Maka, Mario Kaliakatsos, Mariya Moosajee, Gábor Rudas, Máté Varga, Eszter Balogh, Attila Szabo, Dóra K. Menyhárd, Horia Stanescu, Tomas Goncalves, Olivier Gribouval, Regina Légrádi, George S. Reusz, Robert Kleta, Judit Götze, David A. Long
Publikováno v:
Proceedings of the National Academy of Sciences. 117:15137-15147
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, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48c70950ec857554bf1e04d93236b91c
https://doi.org/10.1073/pnas.2002328117
https://doi.org/10.1073/pnas.2002328117
Autor:
Detlef Bockenhauer, Salah Marzouk, Marwa H. Saied, Aoife M. Waters, Mona Tahoun, Jeffrey H. Miner, Mehul T. Dattani, Meei Hua Lin, Ji Soo Kim, Emma Ashton, Felipe D’Arco, Scott Haston, Athia Hannan, G. Anderson, Jennifer C. Chandler
Publikováno v:
The Journal of Clinical Endocrinology and Metabolism
Context Mutations in LAMB2, encoding the basement membrane protein, laminin β2, are associated with an autosomal recessive disorder characterized by congenital nephrotic syndrome, ocular abnormalities, and neurodevelopmental delay (Pierson syndrome)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::030d0f0ca46b9f88232afe4144c608b6
https://doi.org/10.1530/ey.17.1.3
https://doi.org/10.1530/ey.17.1.3
Autor:
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
Publikováno v:
Proc Natl Acad Sci U S A
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, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ed9767392e180665c2cb7a1e6caf982d
https://pubmed.ncbi.nlm.nih.gov/32554502
https://pubmed.ncbi.nlm.nih.gov/32554502