Article
A Carboxy-terminal Smarcb1 Point Mutation Induces Hydrocephalus Formation and Affects AP-1 and Neuronal Signalling Pathways in Mice.
Cellular and molecular neurobiology - 1 Oct 2023
Brugmans Aliska K, Walter Carolin, Moreno Natalia, Göbel Carolin, Holdhof Dörthe, de Faria Flavia W, Hotfilder Marc, Jeising Daniela, Frühwald Michael C, Skryabin Boris V, Rozhdestvensky Timofey S, Wachsmuth Lydia, Faber Cornelius, Dugas Martin, Varghese Julian, Schüller Ulrich, Albert Thomas K, Kerl Kornelius
Abstract excerpt
The BAF (BRG1/BRM-associated factor) chromatin remodelling complex is essential for the regulation of DNA accessibility and gene expression during neuronal differentiation. Mutations of its core subunit SMARCB1 result in a broad spectrum of pathologies, including aggressive rhabdoid tumours or neurodevelopmental disorders. Other mouse models have addressed the influence of a homo- or heterozygous loss of Smarcb1,...
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