2025
Changes in the FXR-cistrome and alterations in bile acid physiology in Wilson disease
Wooton-Kee C, Yalamanchili H, Mohamed I, Hassan M, Setchell K, Rivas M, Coskun A, Putluri V, Putluri N, Jalal P, Schilsky M, Moore D. Changes in the FXR-cistrome and alterations in bile acid physiology in Wilson disease. Hepatology Communications 2025, 9: e0707. PMID: 40408300, PMCID: PMC12106221, DOI: 10.1097/hc9.0000000000000707.Peer-Reviewed Original ResearchConceptsWild-type miceFarnesoid X receptorWilson's diseaseNon-parenchymal cellsDistal intergenic regionsLiver bile acid concentrationWD patientsHealthy controlsMetabolic target genesFarnesoid X Receptor RegulationBile salt export pumpIntergenic regionFXR activationAutosomal recessive disorderBile acid homeostasisBile acid physiologyFarnesoid X receptor activationPromoter regionHomeostasis pathwaysBile acid metabolismDecreasing FXR activityTarget genesBile acid profilesMarker genesStress pathways
2024
Dantrolene corrects cellular disease features of Darier disease and may be a novel treatment
Hunt M, Wang N, Pupinyo N, Curman P, Torres M, Jebril W, Chatzinikolaou M, Lorent J, Silberberg G, Bansal R, Burner T, Zhou J, Kimeswenger S, Hoetzenecker W, Choate K, Bachar-Wikstrom E, Wikstrom J. Dantrolene corrects cellular disease features of Darier disease and may be a novel treatment. EMBO Molecular Medicine 2024, 16: 1986-2001. PMID: 39060641, PMCID: PMC11392931, DOI: 10.1038/s44321-024-00104-3.Peer-Reviewed Original ResearchDarier's diseaseER stressCell adhesionER calcium levelsUpregulation of ER stressInhibited calcium releaseRyanodine receptor antagonistEndoplasmic reticulum calcium homeostasisTarget pathogenic mechanismsFeatures of Darier's diseaseIdentified dysregulated genesMechanisms of DDNon-dermatological indicationsCellular calcium dynamicsCellular functionsER calciumHomeostasis pathwaysATP2A2 geneIn vitro modelReceptor antagonistPumps calciumCalcium releasePromote cell adhesionIsoform 2Suppressed apoptosis
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