Á lódáil...
Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis
Mutations in the human NPHP5 gene cause retinal and renal disease but the precise mechanisms by which NPHP5 functions are not understood. We report that NPHP5 is a centriolar protein whose depletion inhibits an early step of ciliogenesis, a phenotype reminiscent of Cep290 loss and contrary to IFT88...
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| Main Authors: | , , , |
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| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
2013
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3797088/ https://ncbi.nlm.nih.gov/pubmed/23446637 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt100 |
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