Article
Autism-like phenotypes and increased NMDAR2D expression in mice with KDM5B histone lysine demethylase deficiency.
Science advances - 22 May 2026
Pérez-Sisqués Leticia, Bhatt Shail U, Caruso Angela, Robb Josephine L, Donovan Alex P A, Bamford Rosemary, Torres-Cano Alejo, Spring Shoshana, Hendy Eleanor, Gileadi Talia E, Panasiuk Martyna, Trengove Jed, Jindal Neeru, Ahmed Mohi U, Sabbioni Mara, Taylor-Papadimitriou Joyce, Cash Diana, Clifton Nicholas, Ellegood Jacob, Andreae Laura C, Lerch Jason P, Scattoni Maria Luisa, Giese K Peter, Fernandes Cathy, Basson M Albert
Abstract excerpt
Loss-of-function mutations in genes encoding lysine demethylases specific for trimethylated lysine 4 of histone 3 (H3K4me3) are associated with neurodevelopmental conditions, including autism spectrum disorder (ASD) and intellectual disability (ID). To study the role of KDM5B (lysine demethylase 5B)-mediated H3K4me3 demethylation, we investigated neurodevelopmental phenotypes in mice without KDM5B demethylase...
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