2023
Inactivation of Invs/Nphp2 in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse
Li Y, Xu W, Makova S, Brueckner M, Sun Z. Inactivation of Invs/Nphp2 in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse. ELife 2023, 12: e82395. PMID: 36920028, PMCID: PMC10154023, DOI: 10.7554/elife.82395.Peer-Reviewed Original ResearchConceptsFlox/Valproic acidRenal fibrosisCyst formationEnd-stage renal diseaseMutant miceHistone deacetylase inhibitor valproic acidKidney function declineStage renal diseaseCell proliferationInhibitor valproic acidEpithelial-stromal crosstalkKnockout mouse modelRenal cyst formationCyst burdenRenal diseaseFunction declineInterstitial fibrosisDisease progressionStromal fibrosisTargeted therapyInfantile nephronophthisisMouse modelMyofibroblast activationRenal epithelial cells
2019
In vivo analysis of renal epithelial cells in zebrafish
Li Y, Xu W, Jerman S, Sun Z. In vivo analysis of renal epithelial cells in zebrafish. Methods In Cell Biology 2019, 154: 163-181. PMID: 31493817, DOI: 10.1016/bs.mcb.2019.04.016.Peer-Reviewed Original Research
2017
Axonemal dynein assembly requires the R2TP complex component Pontin
Li Y, Zhao L, Yuan S, Zhang J, Sun Z. Axonemal dynein assembly requires the R2TP complex component Pontin. Development 2017, 144: 4684-4693. PMID: 29113992, PMCID: PMC5769618, DOI: 10.1242/dev.152314.Peer-Reviewed Original ResearchConceptsDynein arm assemblyCilia motilityTah1-Pih1 (R2TP) complexAxonemal dynein assemblyMacromolecular protein complexesIntermediate chain 1Reptin functionsRUVBL1-RUVBL2R2TP complexAAA ATPasesCytosolic punctaArm assemblyDynein assemblyAssembly factorsCytosolic fociProtein complexesZebrafish embryosCilia defectsInner dynein armsPontinCiliated tissuesMouse testisReptinChain 1Dynein arms
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
2014
Endothelial Cilia Are Essential for Developmental Vascular Integrity in Zebrafish
Kallakuri S, Yu JA, Li J, Li Y, Weinstein BM, Nicoli S, Sun Z. Endothelial Cilia Are Essential for Developmental Vascular Integrity in Zebrafish. Journal Of The American Society Of Nephrology 2014, 26: 864-875. PMID: 25214579, PMCID: PMC4378100, DOI: 10.1681/asn.2013121314.Peer-Reviewed Original ResearchConceptsIntraflagellar transport genesTransport genesModel organism zebrafishChemical genetic toolsKidney disease genesEndothelial ciliaInvolvement of ciliaVascular integrityInhibition of HedgehogHemorrhage phenotypeCilia biogenesisVertebrate cellsCiliary mutantsZebrafish vasculatureGenetic toolsRespective mutantsDisease genesEndothelial cellsNovel roleInactivating mutationGenesCiliaEssential roleZebrafishMutants
2013
Reptin/Ruvbl2 is a Lrrc6/Seahorse interactor essential for cilia motility
Zhao L, Yuan S, Cao Y, Kallakuri S, Li Y, Kishimoto N, DiBella L, Sun Z. Reptin/Ruvbl2 is a Lrrc6/Seahorse interactor essential for cilia motility. Proceedings Of The National Academy Of Sciences Of The United States Of America 2013, 110: 12697-12702. PMID: 23858445, PMCID: PMC3732945, DOI: 10.1073/pnas.1300968110.Peer-Reviewed Original ResearchConceptsDNA damage responseCilia motilityDamage responseAxonemal dynein armsReptin functionsDefective cilia motilityVertebrate developmentTranscriptional regulationVivo functionCiliary defectsMutantsPCD genesReptinRUVBL2Expression levelsZebrafishSeahorsesDynein armsAutosomal recessive diseasePrimary ciliary dyskinesiaMotilityMultiple processesArm formationRecessive diseaseInteractors