Article
Deamidation enables pathogenic SMAD6 variants to activate the BMP signaling pathway.
Science China. Life sciences - 1 Sept 2024
Li Ling, Lu Lei, Xiao Ziqi, Lv Jingyi, Huang Hefeng, Wu Bo, Zhao Tongjin, Li Chengtao, Wang Weimin, Wang Hongyan
Abstract excerpt
The BMP signaling pathway plays a crucial role in regulating early embryonic development and tissue homeostasis. SMAD6 encodes a negative regulator of BMP, and rare variants of SMAD6 are recurrently found in individuals with birth defects. However, we observed that a subset of rare pathogenic variants of SMAD6 consistently exhibited positive regulatory effects instead of the initial negative effects on the BMP...
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