Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.

doi:10.1172/JCI60981

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Article

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.

The Journal of clinical investigation - 1 Apr 2012

Rachel Rivka A, May-Simera Helen L, Veleri Shobi, Gotoh Norimoto, Choi Byung Yoon, Murga-Zamalloa Carlos, McIntyre Jeremy C, Marek Jonah, Lopez Irma, Hackett Alice N, Zhang Jun, Brooks Matthew, den Hollander Anneke I, Beales Philip L, Li Tiansen, Jacobson Samuel G, Sood Raman, Martens Jeffrey R, Liu Paul, Friedman Thomas B, Khanna Hemant, Koenekoop Robert K, Kelley Matthew W, Swaroop Anand

Abstract excerpt

Cilia are highly specialized microtubule-based organelles that have pivotal roles in numerous biological processes, including transducing sensory signals. Defects in cilia biogenesis and transport cause pleiotropic human ciliopathies. Mutations in over 30 different genes can lead to cilia defects, and complex interactions exist among ciliopathy-associated proteins. Mutations of the centrosomal protein 290 kDa...

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Identifiers

PMID: 22446187
DOI: 10.1172/JCI60981
PMCID: PMC3314468

Genes

MKKS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.PMID 22446187Read ↗

BBS mutations modify phenotypic expression of CEP290-related ciliopathies.Semantic proximity Read ↗

Ciliopathy-associated protein, CEP290, is required for ciliary necklace and outer segment membrane formation in retinal photoreceptorsSemantic proximity Read ↗

The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness.Semantic proximity Read ↗

Accumulation of the Raf-1 Kinase Inhibitory Protein (Rkip) Is Associated with Cep290-mediated Photoreceptor Degeneration in CiliopathiesSemantic proximity Read ↗

In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations.Semantic proximity Read ↗

Mks6 mutations reveal tissue- and cell type-specific roles for the cilia transition zone.Semantic proximity Read ↗

Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.Semantic proximity Read ↗

Genetic compensation for cilia defects in cep290 mutants by upregulation of cilia-associated small GTPases.Semantic proximity Read ↗

CEP290 myosin-tail homology domain is essential for protein confinement between inner and outer segments in photoreceptorsSemantic proximity Read ↗

Drosophila sensory cilia lacking MKS proteins exhibit striking defects in development but only subtle defects in adults.Semantic proximity Read ↗

<i>Drosophila</i> sensory cilia lacking MKS-proteins exhibit striking defects during development but only subtle defects in adultsSemantic proximity Read ↗

The myosin-tail homology domain of centrosomal protein 290 is essential for protein confinement between the inner and outer segments in photoreceptors.Semantic proximity Read ↗

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