Yuanyuan Li, PhD
Associate Research Scientist in GeneticsCards
About
Research
Publications
2024
Cotranslational molecular condensation of cochaperones and assembly factors facilitates axonemal dynein biogenesis
Li Y, Xu W, Cheng Y, Djenoune L, Zhuang C, Cox A, Britto C, Yuan S, Wang S, Sun Z. Cotranslational molecular condensation of cochaperones and assembly factors facilitates axonemal dynein biogenesis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2402818121. PMID: 39541357, PMCID: PMC11588059, DOI: 10.1073/pnas.2402818121.Peer-Reviewed Original ResearchConceptsDynein axonemal assembly factorsAssembly factorsCytosolic fociOuter dynein armsMacromolecular machinesAxonemal dyneinsAssembly hubDynein armsMolecular condensateLiquid-liquid phase separationCochaperoneEncoding mRNAFoci formationCiliary motilityStable interactionLRRC6Functional significanceRUVBL1DyneinMRNAAssembly of multiple componentsAssemblyPotential mechanismsRUVBL2Biogenesis
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 ResearchVariants in the SNCA Locus Are Associated With the Progression of Parkinson's Disease.
Luo N, Li Y, Niu M, Zhou L, Yao M, Zhu L, Ye G, Kang W, Liu J. Variants in the SNCA Locus Are Associated With the Progression of Parkinson's Disease. Frontiers In Aging Neuroscience 2019, 11: 110. PMID: 31244647, PMCID: PMC6562243, DOI: 10.3389/fnagi.2019.00110.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
Deletion of ADP Ribosylation Factor-Like GTPase 13B Leads to Kidney Cysts
Li Y, Tian X, Ma M, Jerman S, Kong S, Somlo S, Sun Z. Deletion of ADP Ribosylation Factor-Like GTPase 13B Leads to Kidney Cysts. Journal Of The American Society Of Nephrology 2016, 27: 3628-3638. PMID: 27153923, PMCID: PMC5118478, DOI: 10.1681/asn.2015091004.Peer-Reviewed Original ResearchConceptsSevere patterning defectsMultiple model organismsSmall GTPase essentialDefective hedgehog signalingCystic kidneysNumber of phenotypesKidney cyst formationKidney cystsJoubert syndromeGTPase essentialZebrafish leadsPatterning defectsBiogenesis defectsModel organismsCilia biogenesisLoss of functionCyst progressionDefective ciliaHistone deacetylase inhibitorsHuman mutationsNull mutationHedgehog signalingHypomorphic natureRescue experimentsNeural tubeHypomorphic 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 roleZebrafishMutantsIFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet–Biedl syndrome
Aldahmesh MA, Li Y, Alhashem A, Anazi S, Alkuraya H, Hashem M, Awaji AA, Sogaty S, Alkharashi A, Alzahrani S, Al Hazzaa S, Xiong Y, Kong S, Sun Z, Alkuraya FS. IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet–Biedl syndrome. Human Molecular Genetics 2014, 23: 3307-3315. PMID: 24488770, PMCID: PMC4047285, DOI: 10.1093/hmg/ddu044.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAmino Acid SequenceAnimalsBardet-Biedl SyndromeConsanguinityEvolution, MolecularExomeFemaleGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansMaleModels, MolecularMonomeric GTP-Binding ProteinsPedigreePoint MutationSaudi ArabiaSequence AlignmentZebrafishConceptsBardet-Biedl syndromeBBS genesNovel BBS geneIntraflagellar transport genesAutosomal recessive ciliopathyIFT particlesProtein complexesTransport genesMembrane proteinsFunctional validationGenetic complexityRecessive ciliopathyHuman geneticsGenesIFT27Genetic heterogeneityConsanguineous familyBBS casesBBSomeZebrafishCiliopathiesGeneticsProteinCiliaFirst time
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