Featured Publications
The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality
Boskovski MT, Yuan S, Pedersen NB, Goth CK, Makova S, Clausen H, Brueckner M, Khokha MK. The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality. Nature 2013, 504: 456-459. PMID: 24226769, PMCID: PMC3869867, DOI: 10.1038/nature12723.Peer-Reviewed Original Research
2024
The Heterotaxy Gene CCDC11 Is Important for Cytokinesis via RhoA Regulation
Kulkarni S, Stephenson R, Amalraj S, Arrigo A, Betleja E, Moresco J, Yates J, Mahjoub M, Miller A, Khokha M. The Heterotaxy Gene CCDC11 Is Important for Cytokinesis via RhoA Regulation. Cytoskeleton 2024 PMID: 39479942, DOI: 10.1002/cm.21952.Peer-Reviewed Original ResearchRhoA regulationCytokinetic contractile ringLeft-right organizerLR patterningRhoA protein levelsContractile ringGTPase RhoADepletion phenotypeMonociliated cellsCCDC11Loss of functionCytokinesisRhoAPatient phenotypesPhenotypeDisease pathogenesisProtein levelsMultiple ciliaCellsPotential mechanismsRegulationGTPaseCFAP53MulticiliationMutations
2023
CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability
Deniz E, Pasha M, Guerra M, Viviano S, Ji W, Konstantino M, Jeffries L, Lakhani S, Medne L, Skraban C, Krantz I, Khokha M. CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability. Developmental Biology 2023, 499: 75-88. PMID: 37172641, PMCID: PMC10373286, DOI: 10.1016/j.ydbio.2023.04.006.Peer-Reviewed Original ResearchConceptsLeft-right organizerCilia stabilityLeft-right patterningCongenital heart disease genesApical surfaceCell apical surfaceLive confocal imagingLeftward fluid flowHeart disease genesRecessive missense mutationLethal birth defectMotile monociliaProtein familyEarly embryogenesisMulticiliated cellsCiliary axonemeDisease genesFrog embryosGenetic underpinningsWhole-exome sequencingMissense mutationsConfocal imagingEmbryosCiliaCongenital heart disease