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 tube
2009
Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion
Duldulao NA, Lee S, Sun Z. Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion. Development 2009, 136: 4033-4042. PMID: 19906870, PMCID: PMC2778746, DOI: 10.1242/dev.036350.Peer-Reviewed Original ResearchConceptsCilia formationVivo functionJoubert syndromeSeries of deletionsSonic hedgehog (Shh) signalingCilia localizationCiliary localizationNull mutantsPoint mutantsGene productsHedgehog signalingArl13bCiliary defectsMutantsKidney ductsZebrafishCiliaAutosomal recessive disorderAbnormal ultrastructureScorpionsRecessive disorderLocalizationRecent studiesKnockdownSignaling