Article
Genetic compensation for cilia defects in cep290 mutants by upregulation of cilia-associated small GTPases.
Journal of cell science - 15 Jul 2021
Cardenas-Rodriguez Magdalena, Austin-Tse Christina, Bergboer Judith G M, Molinari Elisa, Sugano Yuya, Bachmann-Gagescu Ruxandra, Sayer John A, Drummond Iain A
Abstract excerpt
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 disease syndromes. In zebrafish, the expressivity of cep290 deficiencies were linked to the type of genetic ablation:...
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