Generation of osteoclasts from type 1 Gaucher patients and correlation with clinical and genetic features of disease.
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DOI: 10.1016/j.gene.2018.08.045
Abstract: Gaucher disease (GD) is a rare autosomal recessive disorder caused by deficient activity of β-glucocerebrosidase resulting in the accumulation of glucosylceramide. Bone disease is a common feature with radiological evidence in up to 93% of… read more here.
Keywords: gaucher; therapy; disease; generation ... See more keywords
Phagocytosis of Erythrocytes from Gaucher Patients Induces Phenotypic Modifications in Macrophages, Driving Them toward Gaucher Cells
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DOI: 10.3390/ijms23147640
Abstract: Gaucher disease (GD) is caused by glucocerebrosidase deficiency leading to the accumulation of sphingolipids in macrophages named “Gaucher’s Cells”. These cells are characterized by deregulated expression of cell surface markers, abnormal secretion of inflammatory cytokines,… read more here.
Keywords: gaucher patients; gaucher cells; gaucher; phagocytosis erythrocytes ... See more keywords