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Wdr26 insufficiency causes Skraban-Deardorff syndrome-like behaviors in mice

ABSTRACT: Proteomic mass spectrometry analysis on brain tissue from Wdr26 WT and KO mouse embryos (E12.5)

ORGANISM(S): Mus Musculus

SUBMITTER: Xingshun Xu

PROVIDER: PXD072913 | iProX | Fri Jan 09 00:00:00 GMT 2026

REPOSITORIES: iProX

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Wdr26 insufficiency causes Skraban-Deardorff syndrome-like neurodevelopmental deficits in mice.

Xu Xingyun X Zhou Yaohui Y Xu Shiyao S Zhou Hongjie H Lin Xuexia X Luo Yuhao Y Xu Yu Y Miao Zhigang Z Ge Wei W Yang Hao H Xu Xingshun X

The Journal of clinical investigation 20260515 10

Skraban-Deardorff syndrome, a rare neurodevelopmental disorder caused by WD repeat domain 26 (WDR26) haploinsufficiency, is characterized by intellectual disability, seizures, autistic-like behaviors, and craniofacial anomalies. Despite its genetic association with variants disrupting the C-terminal to LisH (CTLH) E3 ubiquitin ligase complex, the molecular mechanisms linking WDR26 dysfunction to neurodevelopmental deficits remain unclear. Here, we demonstrate that Wdr26 heterozygous-KO mice (Wdr ...[more]

PMID: 42138082

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