2022
Mink1 regulates spemann organizer cell fate in the xenopus gastrula via Hmga2
Colleluori V, Khokha M. Mink1 regulates spemann organizer cell fate in the xenopus gastrula via Hmga2. Developmental Biology 2022, 495: 42-53. PMID: 36572140, PMCID: PMC10116378, DOI: 10.1016/j.ydbio.2022.11.010.Peer-Reviewed Original ResearchConceptsSpemann organizerCell fateTranscription factorsMolecular mechanismsSerine/threonine kinaseLeft-right patterningProper heart developmentUnbiased proteomic approachArchitectural transcription factorPlausible molecular mechanismCHD candidate genesVertebrate embryosThreonine kinaseProteomic approachXenopus gastrulaCommon birth defectsHeart developmentCandidate genesCanonical WntOrganizer cellsSequencing studiesMINK1Critical effectorΒ-cateninHMGA2
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