2016
mTORC1-mediated inhibition of polycystin-1 expression drives renal cyst formation in tuberous sclerosis complex
Pema M, Drusian L, Chiaravalli M, Castelli M, Yao Q, Ricciardi S, Somlo S, Qian F, Biffo S, Boletta A. mTORC1-mediated inhibition of polycystin-1 expression drives renal cyst formation in tuberous sclerosis complex. Nature Communications 2016, 7: 10786. PMID: 26931735, PMCID: PMC4778067, DOI: 10.1038/ncomms10786.Peer-Reviewed Original ResearchConceptsPolycystin-1Genetic interaction studiesTSC genesPolycystic kidney diseaseTuberous sclerosis complex (TSC) genesKidney-specific inactivationPolycystin-1 expressionRenal cyst formationComplex genesContiguous gene syndromeGenesTsc1 mutantsAutosomal dominant polycystic kidney diseaseOpen new perspectivesDominant polycystic kidney diseaseCyst expansionMTOR inhibitorsNew interplayInteraction studiesTuberous sclerosis complexPKD1 mutationsInactivationCyst formationBiogenesisImportant role
2015
The Future of Polycystic Kidney Disease Research—As Seen By the 12 Kaplan Awardees
Antignac C, Calvet JP, Germino GG, Grantham JJ, Guay-Woodford LM, Harris PC, Hildebrandt F, Peters DJ, Somlo S, Torres VE, Walz G, Zhou J, Yu AS. The Future of Polycystic Kidney Disease Research—As Seen By the 12 Kaplan Awardees. Journal Of The American Society Of Nephrology 2015, 26: 2081-2095. PMID: 25952256, PMCID: PMC4552123, DOI: 10.1681/asn.2014121192.Peer-Reviewed Original ResearchAnimalsBiomedical ResearchCiliaGenes, ModifierHumansKidney TubulesMechanistic Target of Rapamycin Complex 1Microtubule-Associated ProteinsMolecular Targeted TherapyMultiprotein ComplexesPhenotypePolycystic Kidney, Autosomal DominantRenal InsufficiencySignal TransductionTOR Serine-Threonine KinasesTRPP Cation Channels