Article
Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders.
Nature communications - 9 Nov 2021
Pagliaroli Luca, Porazzi Patrizia, Curtis Alyxandra T, Scopa Chiara, Mikkers Harald M M, Freund Christian, Daxinger Lucia, Deliard Sandra, Welsh Sarah A, Offley Sarah, Ott Connor A, Calabretta Bruno, Brugmann Samantha A, Santen Gijs W E, Trizzino Marco
Abstract excerpt
Subunit switches in the BAF chromatin remodeler are essential during development. ARID1B and its paralog ARID1A encode for mutually exclusive BAF subunits. De novo ARID1B haploinsufficient mutations cause neurodevelopmental disorders, including Coffin-Siris syndrome, which is characterized by neurological and craniofacial features. Here, we leveraged ARID1B+/- Coffin-Siris patient-derived iPSCs and modeled...
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