Disorders of erythrocyte hydration
Gallagher PG. Disorders of erythrocyte hydration. Blood 2017, 130: 2699-2708. PMID: 29051181, PMCID: PMC5746162, DOI: 10.1182/blood-2017-04-590810.Peer-Reviewed Original ResearchConceptsCassette family memberErythrocyte volume homeostasisCellular dehydrationNetwork of pathwaysErythrocyte hydrationMechanosensory proteinsRed blood cell functionVolume homeostasisGlucose transporterNew therapeutic targetsOsmotic perturbationSickle cell diseaseGenetic heterogeneityBlood cell functionCell functionCell hemoglobin concentrationAnion transportersClinical complicationsProteinTherapeutic targetTransportersPrimary disorderCell diseaseHomeostasisSecondary disordersNovel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis
Glogowska E, Schneider ER, Maksimova Y, Schulz VP, Lezon-Geyda K, Wu J, Radhakrishnan K, Keel SB, Mahoney D, Freidmann AM, Altura RA, Gracheva EO, Bagriantsev SN, Kalfa TA, Gallagher PG. Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis. Blood 2017, 130: 1845-1856. PMID: 28716860, PMCID: PMC5649553, DOI: 10.1182/blood-2017-05-786004.Peer-Reviewed Original ResearchConceptsHereditary xerocytosisMembrane protein traffickingNext-generation sequencing-based techniquesSequencing-based techniquesMembrane protein expressionProtein traffickingFunction phenotypesCell biologyOsmotic stressWild typePIEZO1 variantsFunctional assaysNovel mechanismGenetic heterogeneityMutationsProtein expressionErythrocyte hydrationXerocytosisVivo systemTraffickingPartial gainPhenotypeChannel inactivationCation permeabilityCongenital hemolytic anemia