2022
Polycystic Kidney Disease Drug Development: A Conference Report
Liebau M, Mekahli D, Perrone R, Soyfer B, Fedeles S. Polycystic Kidney Disease Drug Development: A Conference Report. Kidney Medicine 2022, 5: 100596. PMID: 36698747, PMCID: PMC9867973, DOI: 10.1016/j.xkme.2022.100596.Peer-Reviewed Original ResearchAutosomal dominant polycystic kidney diseasePolycystic kidney diseaseAutosomal recessive polycystic kidney diseaseRecessive polycystic kidney diseaseKidney diseaseProgression of ADPKDSide effect profileChronic kidney failureDisease-modifying therapiesAutosomal dominant polycystic liver diseasePolycystic liver diseaseTotal kidney volumeDominant polycystic kidney diseaseCritical Path InstituteMechanism of actionCommon monogenic disorderDrug development toolsEffect profileLiver diseaseKidney failureOutcomes ConsortiumEnrichment biomarkerClinical trialsKidney volumeSurrogate endpoints
2019
Spliced XBP1 Rescues Renal Interstitial Inflammation Due to Loss of Sec63 in Collecting Ducts
Ishikawa Y, Fedeles S, Marlier A, Zhang C, Gallagher AR, Lee AH, Somlo S. Spliced XBP1 Rescues Renal Interstitial Inflammation Due to Loss of Sec63 in Collecting Ducts. Journal Of The American Society Of Nephrology 2019, 30: 443-459. PMID: 30745418, PMCID: PMC6405156, DOI: 10.1681/asn.2018060614.Peer-Reviewed Original ResearchKidney injuryInterstitial inflammationKidney functional declineChronic kidney injuryRenal interstitial inflammationAutosomal dominant polycystic liver diseasePolycystic liver diseaseDistal nephron segmentsDouble knockout micePolycystic kidney diseaseEndoplasmic reticulum stressOvert activationRenal effectsKidney functionLiver diseaseKidney diseaseNeonatal miceFunctional declineNovel genetic modelMyofibroblast activationKnockout miceDisparate etiologiesLate onsetCollecting ductsNephron segments
2014
N-Glycosylation Determines the Abundance of the Transient Receptor Potential Channel TRPP2*
Hofherr A, Wagner C, Fedeles S, Somlo S, Köttgen M. N-Glycosylation Determines the Abundance of the Transient Receptor Potential Channel TRPP2*. Journal Of Biological Chemistry 2014, 289: 14854-14867. PMID: 24719335, PMCID: PMC4031537, DOI: 10.1074/jbc.m114.562264.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAsparagineBinding SitesBlotting, WesternCell LineCells, CulturedGlucosidasesGlycosylationHEK293 CellsHeLa CellsHumansIntracellular Signaling Peptides and ProteinsLysosomesMass SpectrometryMiceMice, KnockoutMicroscopy, FluorescenceMutationPolycystic Kidney, Autosomal DominantProtein Serine-Threonine KinasesProteolysisPyruvate Dehydrogenase Acetyl-Transferring KinaseConceptsGlucosidase IINon-catalytic β-subunitsProtein expressionFirst extracellular loopAutosomal dominant polycystic liver diseaseEfficient biogenesisGenetic interactionsMembrane proteinsBiochemical approachesN-glycosylationGenetic approachesTRPP2Glycosylation sitesBiological roleLysosomal degradationΒ-subunitChemical inhibitionBiogenesisExtracellular loopNonselective cation channelsIon channelsBiological importanceGlycosylationCation channelsProtein levelsPolycystin-1: a master regulator of intersecting cystic pathways
Fedeles SV, Gallagher AR, Somlo S. Polycystin-1: a master regulator of intersecting cystic pathways. Trends In Molecular Medicine 2014, 20: 251-260. PMID: 24491980, PMCID: PMC4008641, DOI: 10.1016/j.molmed.2014.01.004.Peer-Reviewed Original ResearchConceptsAutosomal dominant polycystic kidney diseaseAutosomal recessive polycystic kidney diseaseAutosomal dominant polycystic liver diseasePolycystic kidney diseaseKidney diseasePolycystic liver diseaseRecessive polycystic kidney diseaseDominant polycystic kidney diseaseLiver diseasePolycystic diseaseCyst growthLethal monogenic disorderCyst formationTranslational implicationsDiseaseMonogenic disordersCausative genesCystic phenotypeRecent dataPolycystin-1Polycystin-2Master regulator