Germline NPM1 mutations lead to altered rRNA 2’-O-methylation and cause dyskeratosis congenita

RNA modifications are emerging as key determinants of development and of disease. However, compelling genetic demonstrations of their relevance to human disease are lacking. Here, we link rRNA 2’-O-methylation (2’-O-Me) to the etiology of dyskeratosis congenita (DC). We identify nucleophosmin (NPM1)...

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Detalles Bibliográficos
Autores principales: Nachmani, Daphna, Bothmer, Anne H., Grisendi, Silvia, Mele, Aldo, Bothmer, Dietmar, Lee, Jonathan D., Monteleone, Emanuele, Cheng, Ke, Zhang, Yang, Bester, Assaf C., Guzzetti, Alison, Mitchell, Caitlin A., Mendez, Lourdes M., Pozdnyakova, Olga, Sportoletti, Paolo, Martelli, Maria-Paola, Vulliamy, Tom J., Safra, Modi, Schwartz, Schraga, Luzzatto, Lucio, Bluteau, Olivier, Soulier, Jean, Darnell, Robert B., Falini, Brunangelo, Dokal, Inderjeet, Ito, Keisuke, Clohessy, John G., Pandolfi, Pier Paolo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6858547/
https://www.ncbi.nlm.nih.gov/pubmed/31570891
http://dx.doi.org/10.1038/s41588-019-0502-z

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