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
2020
Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects
Marquez J, Criscione J, Charney RM, Prasad MS, Hwang WY, Mis EK, García-Castro MI, Khokha MK. Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects. Journal Of Clinical Investigation 2020, 130: 813-826. PMID: 31904590, PMCID: PMC6994125, DOI: 10.1172/jci129308.Peer-Reviewed Original ResearchConceptsEndoplasmic reticulum (ER) membrane protein complexMultipass membrane proteinsNeural crest cellsMembrane proteinsHuman NCC developmentER membrane proteinsMembrane protein complexesCell-cell signalsMyriad of functionsNCC defectsNCC developmentProtein complexesUnbiased proteomicsXenopus modelTransmembrane proteinFunction allelesPatient phenotypesCrest cellsMolecular connectionNeural crestMolecular mechanismsBirth defectsPatient variantsEMC1Β-catenin