Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion

Warsaw Breakage Syndrome (WABS) is a rare disorder related to cohesinopathies and Fanconi anemia, caused by bi-allelic mutations in DDX11. Here, we report multiple compound heterozygous WABS cases, each displaying destabilized DDX11 protein and residual DDX11 function at the cellular level. Patient-...

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Detalles Bibliográficos
Autores principales: van Schie, Janne J. M., Faramarz, Atiq, Balk, Jesper A., Stewart, Grant S., Cantelli, Erika, Oostra, Anneke B., Rooimans, Martin A., Parish, Joanna L., de Almeida Estéves, Cynthia, Dumic, Katja, Barisic, Ingeborg, Diderich, Karin E. M., van Slegtenhorst, Marjon A., Mahtab, Mohammad, Pisani, Francesca M., te Riele, Hein, Ameziane, Najim, Wolthuis, Rob M. F., de Lange, Job
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7452896/
https://www.ncbi.nlm.nih.gov/pubmed/32855419
http://dx.doi.org/10.1038/s41467-020-18066-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7452896/
https://www.ncbi.nlm.nih.gov/pubmed/32855419
http://dx.doi.org/10.1038/s41467-020-18066-8

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