2021
A change of heart: new roles for cilia in cardiac development and disease
Djenoune L, Berg K, Brueckner M, Yuan S. A change of heart: new roles for cilia in cardiac development and disease. Nature Reviews Cardiology 2021, 19: 211-227. PMID: 34862511, PMCID: PMC10161238, DOI: 10.1038/s41569-021-00635-z.Peer-Reviewed Original ResearchConceptsCongenital heart diseaseHeart diseaseCardiac valve disordersAortic valve diseaseMitral valve prolapseCardiac developmentValve diseaseValve prolapseMyocardial fibrosisValve disordersCardiac abnormalitiesPresence of ciliaCardiac fibroblastsCilia functionContractile forceDiseaseFunction contributesLines of evidenceDefective primary ciliaPotential roleHeart regenerationBroader roleHeartDisordersLatest findings
2019
Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility
Robson A, Makova SZ, Barish S, Zaidi S, Mehta S, Drozd J, Jin SC, Gelb BD, Seidman CE, Chung WK, Lifton RP, Khokha MK, Brueckner M. Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility. Proceedings Of The National Academy Of Sciences Of The United States Of America 2019, 116: 14049-14054. PMID: 31235600, PMCID: PMC6628794, DOI: 10.1073/pnas.1808341116.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCell MovementCell ProliferationChromatin Assembly and DisassemblyCiliaDisease Models, AnimalEpigenesis, GeneticGene Expression Regulation, NeoplasticHeartHeart Defects, CongenitalHistonesHumansLoss of Function MutationMiceRegulatory Factor X Transcription FactorsSignal TransductionUbiquitin-Conjugating EnzymesUbiquitin-Protein LigasesUbiquitinationXenopusConceptsHistone H2B monoubiquitinationCilia genesH2B monoubiquitinationCilia motilityFunctional gene ontologyHuman congenital heart diseaseUpstream transcriptional regulatorsTissue-specific expressionChromatin remodeling genesChromatin remodelingEpigenetic controlH2Bub1 levelsTranscriptional regulatorsChIP-seqDepletion phenotypeGene OntologyGenomic analysisTranscription factorsKnockdown resultsLeft-right asymmetryCilia functionHeart developmentH2Bub1RNF20Complex consisting
2017
Palmitoylation of the ciliary GTPase ARL13b is necessary for its stability and its role in cilia formation
Roy K, Jerman S, Jozsef L, McNamara T, Onyekaba G, Sun Z, Marin EP. Palmitoylation of the ciliary GTPase ARL13b is necessary for its stability and its role in cilia formation. Journal Of Biological Chemistry 2017, 292: 17703-17717. PMID: 28848045, PMCID: PMC5663873, DOI: 10.1074/jbc.m117.792937.Peer-Reviewed Original ResearchConceptsPost-translational attachmentMost mammalian cellsCiliary GTPase Arl13bCilia localizationProtein palmitoylationCiliary proteinsCilia proteinsProtein localizationCilia formationMammalian cellsCilia functionPalmitoylationPrimary ciliaPlasma membraneCilia resorptionArl13bFunctional importanceMyristoylationCiliaCritical roleProteinMouse kidneyLocalizationDepalmitoylationCellsCiliary Mechanisms of Cyst Formation in Polycystic Kidney Disease
Ma M, Gallagher AR, Somlo S. Ciliary Mechanisms of Cyst Formation in Polycystic Kidney Disease. Cold Spring Harbor Perspectives In Biology 2017, 9: a028209. PMID: 28320755, PMCID: PMC5666631, DOI: 10.1101/cshperspect.a028209.Peer-Reviewed Original ResearchConceptsPolycystin-2Autosomal dominant polycystic kidney diseaseCalcium-mediated signalsRole of ciliaDisruption of ciliaPolycystic kidney diseaseCellular processesCausal genesTransmembrane proteinTissue homeostasisCilia functionPrimary ciliaPolycystinsGenetic studiesHomeostatic maintenanceSignal integrationUnknown mechanismApical surfaceNephron structuresCiliaKidney tubule cellsIntact ciliaPrivileged compartmentActive remodelingTubule structure
2016
Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1
Soens ZT, Li Y, Zhao L, Eblimit A, Dharmat R, Li Y, Chen Y, Naqeeb M, Fajardo N, Lopez I, Sun Z, Koenekoop RK, Chen R. Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. Genetics In Medicine 2016, 18: 1044-1051. PMID: 26820066, PMCID: PMC4965339, DOI: 10.1038/gim.2015.205.Peer-Reviewed Original ResearchConceptsLeber congenital amaurosisLCA genesRescue experimentsEarly-onset formPhotoreceptor cell deathWhole-exome sequencingDysfunctional photoreceptorsRetinal disease genesCause of diseaseSystemic abnormalitiesLCA cohortMouse retinaRetinal degenerationHypomorphic mutationsCongenital amaurosisLCA patientsCilia-associated genesPhotoreceptor functionProband's mutationCell deathDiseaseProbandsSingle probandHuman diseasesCilia function
2015
Chapter 11 Analysis of soluble protein entry into primary cilia using semipermeabilized cells
Breslow DK, Nachury MV. Chapter 11 Analysis of soluble protein entry into primary cilia using semipermeabilized cells. Methods In Cell Biology 2015, 127: 203-221. PMID: 25837393, PMCID: PMC4797650, DOI: 10.1016/bs.mcb.2014.12.006.BooksConceptsSemipermeabilized cellsProtein entriesPrimary ciliaCiliary diffusion barrierNuclear pore complexPrimary cilia functionPore complexMammalian cellsSignal transductionSpecialized compartmentsCilia functionPlasma membraneCiliary membraneIntact cellsExperimental perturbationsCell surfaceProtein exchangeCiliaVitro systemAxon initial segmentMechanistic analysisChapter 11 AnalysisUnique resourceCapture assayCells
2010
The zebrafish foxj1a transcription factor regulates cilia function in response to injury and epithelial stretch
Hellman NE, Liu Y, Merkel E, Austin C, Le Corre S, Beier DR, Sun Z, Sharma N, Yoder BK, Drummond IA. The zebrafish foxj1a transcription factor regulates cilia function in response to injury and epithelial stretch. Proceedings Of The National Academy Of Sciences Of The United States Of America 2010, 107: 18499-18504. PMID: 20937855, PMCID: PMC2972951, DOI: 10.1073/pnas.1005998107.Peer-Reviewed Original ResearchConceptsCilia functionTektin-1Primary response geneRole of ciliaKidney cyst formationEpithelial stretchRenal cyst formationCiliogenic genesTranscriptional networksFoxj1a expressionDevelopmental patterningTranscriptional regulatorsTissue damageKidney ischemia-reperfusion injuryTranscription factorsFoxj1aOrgan homeostasisResponse genesCilia genesUncharacterized componentsCyst formationPronephric tubulesAcute kidney injuryIschemia-reperfusion injuryCilia motility
2008
Zebrafish Tsc1 reveals functional interactions between the cilium and the TOR pathway
DiBella LM, Park A, Sun Z. Zebrafish Tsc1 reveals functional interactions between the cilium and the TOR pathway. Human Molecular Genetics 2008, 18: 595-606. PMID: 19008302, PMCID: PMC2722215, DOI: 10.1093/hmg/ddn384.Peer-Reviewed Original ResearchConceptsKidney cyst formationTOR pathwayCiliary mutantsLeft-right asymmetry defectsVertebrate body planCell surface organellesMultiple signaling pathwaysElongation of ciliaLeft-right asymmetryMorpholino knockdownVertebrate cellsAsymmetry defectsBody planCiliary genesEnvironmental signalsCyst formationKnockdown animalsSensory organellesCilia functionSurface organellesCiliary signalsProtein productsSignaling pathwaysSame pathwayWnt pathway
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