2023
SLC26A1 is a major determinant of sulfate homeostasis in humans
Pfau A, López-Cayuqueo K, Scherer N, Wuttke M, Wernstedt A, Fassrainer D, Smith D, van de Kamp J, Ziegeler K, Eckardt K, Luft F, Aronson P, Köttgen A, Jentsch T, Knauf F. SLC26A1 is a major determinant of sulfate homeostasis in humans. Journal Of Clinical Investigation 2023, 133: e161849. PMID: 36719378, PMCID: PMC9888379, DOI: 10.1172/jci161849.Peer-Reviewed Original ResearchConceptsSulfate homeostasisIntervertebral disc disordersWhole-exome sequencingMajor determinantBack painPatient presentingMusculoskeletal healthDisc disordersPlasma sulfateSulfate reabsorptionFunctional expression assaysCartilage healthHomozygous mutationPotential targetPopulation studiesNumerous physiological processesRecent evidenceExome analysisHomeostasisHyposulfatemiaExpression assaysPivotal roleClinical geneticsAdditional variantsHumans
2021
Dissection of Barrier Dysfunction in Organoid-Derived Human Intestinal Epithelia Induced by Giardia duodenalis
Holthaus D, Kraft M, Krug S, Wolf S, Müller A, Delgado Betancourt E, Schorr M, Holland G, Knauf F, Schulzke J, Aebischer T, Klotz C. Dissection of Barrier Dysfunction in Organoid-Derived Human Intestinal Epithelia Induced by Giardia duodenalis. Gastroenterology 2021, 162: 844-858. PMID: 34822802, DOI: 10.1053/j.gastro.2021.11.022.Peer-Reviewed Original ResearchMeSH KeywordsApoptosisCaco-2 CellsChloridesCyclic AMPCyclic AMP-Dependent Protein KinasesCystic Fibrosis Transmembrane Conductance RegulatorDuodenumElectric ImpedanceGiardia lambliaGiardiasisHumansInterleukin-1Intestinal MucosaIon TransportNF-kappa BOrganoidsParasite LoadSignal TransductionSolute Carrier Family 12, Member 2Tight JunctionsTranscriptomeTumor Necrosis Factor-alphaConceptsG. duodenalis infectionBarrier dysfunctionGiardia duodenalisHuman duodenal tissueIntestinal barrier dysfunctionHuman intestinal epitheliumResponse element-binding proteinTight junction compositionProtozoan Giardia duodenalisAdequate cellular modelsChronic casesMajor expression changesPathophysiological mechanismsBarrier breakdownDuodenal mucosaGastrointestinal illnessDuodenal tissueBarrier lossPathogenic eventsHuman organoid systemEpithelial barrierTranswell systemChloride secretionIntestinal epitheliumTight junction components