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CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium
Joubert syndrome (JS) is a developmental brain disorder characterized by cerebellar vermis hypoplasia, abnormal eye movement, ataxia and mental retardation. Mutations in CEP290 mutations are responsible for the cerebello–oculo–renal subtype of JS that includes kidney cysts and retinal degeneration,...
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| Main Authors: | , , |
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| Format: | Artigo |
| Language: | Inglês |
| Published: |
Oxford University Press
2008
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2722899/ https://ncbi.nlm.nih.gov/pubmed/18772192 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn277 |
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