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