Article
Loss of Ahi1 affects early development by impairing BM88/Cend1-mediated neuronal differentiation.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 8 May 2013
Weng Ling, Lin Yung-Feng, Li Alina L, Wang Chuan-En, Yan Sen, Sun Miao, Gaertig Marta A, Mitha Naureen, Kosaka Jun, Wakabayashi Taketoshi, Xu Xingshun, Tang Beisha, Li Shihua, Li Xiao-Jiang
Abstract excerpt
Mutations in the Abelson helper integration site-1 (AHI1) gene result in N-terminal Ahi1 fragments and cause Joubert syndrome, an autosomal recessive brain malformation disorder associated with delayed development. How AHI1 mutations lead to delayed development remains unclear. Here we report that full-length, but not N-terminal, Ahi1 binds Hap1, a huntingtin-associated protein that is essential for the postnatal...
Topics
- Adaptor Proteins, Vesicular Transport
- Age Factors
- Animals
- Animals, Newborn
- Cell Differentiation
- Cells, Cultured
- Gene Expression Regulation
- Hindlimb Suspension
- Humans