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Genetic compensation for cilia defects in cep290 mutants by upregulation of cilia-associated small GTPases
Mutations in CEP290 (also known as NPHP6), a large multidomain coiled coil protein, are associated with multiple cilia-associated syndromes. Over 130 CEP290 mutations have been linked to a wide spectrum of human ciliopathies, raising the question of how mutations in a single gene cause different dis...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Company of Biologists Ltd
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8325957/ https://www.ncbi.nlm.nih.gov/pubmed/34155518 http://dx.doi.org/10.1242/jcs.258568 |