Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in mice

Joubert syndrome is an autosomal recessive disorder characterized by congenital malformation of the cerebellum and brainstem, with abnormal decussation in the brain. Mutations in the Abelson helper integration site 1 gene, which encodes the protein AHI1, have been shown to cause Joubert syndrome. In...

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Autori principali: Sheng, Guoqing, Xu, Xingshun, Lin, Yung-Feng, Wang, Chuan-En, Rong, Juan, Cheng, Dongmei, Peng, Junmin, Jiang, Xiaoyan, Li, Shi-Hua, Li, Xiao-Jiang
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Clinical Investigation 2008
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2467384/
https://ncbi.nlm.nih.gov/pubmed/18636121
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI35339
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