Article
Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions.
Acta neuropathologica communications - 19 Feb 2026
Lemke Kristina I, Filatova Alina, Chiang Joanna, North Hannah, Kamphof Myrthe R M, Becker-Röck Michaela, Laube Bodo, Santen Gijs W E, Swaab Hanna, Nuber Ulrike A
Abstract excerpt
SMARCB1 encodes a core component of the BAF chromatin remodelling complex and pathogenic variants in this gene are associated with neurodevelopmental disorders such as Coffin-Siris syndrome and intellectual disability with choroid plexus hyperplasia. The relationship between reduced or dysfunctional SMARCB1 protein products and severe functional brain changes associated with Coffin-Siris syndrome, including...
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