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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Cell Sci
Prif Awduron: Cardenas-Rodriguez, Magdalena, Austin-Tse, Christina, Bergboer, Judith G. M., Molinari, Elisa, Sugano, Yuya, Bachmann-Gagescu, Ruxandra, Sayer, John A., Drummond, Iain A.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The Company of Biologists Ltd 2021
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC8325957/
https://ncbi.nlm.nih.gov/pubmed/34155518
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/jcs.258568
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