The Joubert Syndrome-associated Missense Mutation (V443D) in the Abelson-helper Integration Site 1 (AHI1) Protein Alters Its Localization and Protein-Protein Interactions

Mutations in AHI1 cause Joubert syndrome (JBTS), a neurodevelopmental ciliopathy, characterized by midbrain-hindbrain malformations and motor/cognitive deficits. Here, we show that primary cilia (PC) formation is decreased in fibroblasts from individuals with JBTS and AHI1 mutations. Most missense m...

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Main Authors: Tuz, Karina, Hsiao, Yi-Chun, Juárez, Oscar, Shi, Bingxing, Harmon, Erin Y., Phelps, Ian G., Lennartz, Michelle R., Glass, Ian A., Doherty, Dan, Ferland, Russell J.
Formato: Artigo
Idioma:Inglês
Publicado: American Society for Biochemistry and Molecular Biology 2013
Assuntos:
Molecular Bases of Disease
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3650405/
https://ncbi.nlm.nih.gov/pubmed/23532844
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M112.420786
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