Article
BRAT1 links Integrator and defective RNA processing with neurodegeneration.
Nature communications - 26 Aug 2022
Cihlarova Zuzana, Kubovciak Jan, Sobol Margarita, Krejcikova Katerina, Sachova Jana, Kolar Michal, Stanek David, Barinka Cyril, Yoon Grace, Caldecott Keith W, Hanzlikova Hana
Abstract excerpt
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 poorly understood. Here, we show that BRAT1 tightly interacts with INTS9/INTS11 subunits of the Integrator complex that...
Topics
Join the communities discussing this publication.