Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease.

Dear Editor, In the present study, we delineate the molecular pathways underlying atypical progressions of Gaucher disease (GD) that lead to unresponsiveness to enzyme replacement therapy (ERT). (B) Eight distinct protein clusters with different expression profiles in Pt1 GD1 T, Pt3 GD3 T and Pt 3 GD3 AT. Likewise, compared with that in untreated GD2/3 patients, the plasma level of TGF- was lower in GD3 patients who had been treated with high-dose ambroxol for 2 or more years10 (Figure 4C). (C) Heatmap and hierarchical clustering of the proteomic analysis data from Pt1 GD1 T, Pt3 GD3 T and Pt 3 GD3 AT. [Extracted from the article]