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BRAT1 links Integrator and defective RNA processing with neurodegeneration

Mutations in BRAT1, encoding BRCA1-associated ATM activator 1, have been associated with neurodevelopmental and neurodegenerative disorders characterized by heterogeneous phenotypes with varying levels of clinical severity. However, the underlying molecular mechanisms of disease pathology remain poo...

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Detalles Bibliográficos
Autores principales: Cihlarova, Zuzana, Kubovciak, Jan, Sobol, Margarita, Krejcikova, Katerina, Sachova, Jana, Kolar, Michal, Stanek, David, Barinka, Cyril, Yoon, Grace, Caldecott, Keith W., Hanzlikova, Hana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9418311/
https://www.ncbi.nlm.nih.gov/pubmed/36028512
http://dx.doi.org/10.1038/s41467-022-32763-6