Article
FAM91A1-TBC1D23 complex structure reveals human genetic variations susceptible for PCH.
Proceedings of the National Academy of Sciences of the United States of America - 7 Nov 2023
Zhao Lin, Deng Huaqing, Yang Qing, Tang Yingying, Zhao Jia, Li Ping, Zhang Sitao, Yong Xin, Li Tianxing, Billadeau Daniel D, Jia Da
Abstract excerpt
Pontocerebellar hypoplasia (PCH) is a group of rare neurodevelopmental disorders with limited diagnostic and therapeutic options. Mutations in WDR11, a subunit of the FAM91A1 complex, have been found in patients with PCH-like symptoms; however, definitive evidence that the mutations are causal is still lacking. Here, we show that depletion of FAM91A1 results in developmental defects in zebrafish similar to that...
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