Article
New CHARGE Syndrome Mouse Models Reveal the Contribution of the Enzymatic Activity of CHD7 in Pathogenesis.
Genesis (New York, N.Y. : 2000) - 1 Dec 2025
Wang Ze, Dong Shuhua, Huang Zhuxi, Zhang Huiling, Mao Shihang, Zhu Ming, Zhang Duanwu, Li Geng-Lin, Feng Weijun
Abstract excerpt
Genetic variants of CHD7, encoding a chromatin remodeler, lead to CHARGE syndrome with congenital deficits in multiple organs. One crucial unsolved question is the causal mechanisms of most protein-altering variants of CHD7. One hypothesis is that these variants impair the enzymatic activity of CHD7, that is ATPase and nucleosome remodeling activities. Herein, we compared the phenotype of two new mouse models for...
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