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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: | , , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
American Society for Biochemistry and Molecular Biology
2013
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| Teme: | |
| Online dostop: | 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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