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Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis
Ciliopathies are a group of genetic disorders caused by a failure to form functional cilia. Due to a lack of structural information, it is currently poorly understood how ciliopathic mutations affect protein functionality to give rise to the underlying disease. Using X-ray crystallography, we show t...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cell Press
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5990496/ https://www.ncbi.nlm.nih.gov/pubmed/29847808 http://dx.doi.org/10.1016/j.celrep.2018.04.100 |