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Restoring Faulty Protein Production May Improve Gaucher Disease Symptoms, Study Finds

Targeting mitochondrial dysfunction and the improper production of glucocerebrosidase, the faulty protein in Gaucher disease (GD), may be a promising therapeutic approach for the treatment of neurological symptoms associated with GD, according to a new study. The study, “Pharmacological Chaperones and Coenzyme Q10 Treatment Improves Mutant β-Glucocerebrosidase Activity and Mitochondrial Function in…

Possible Blood Biomarker for Gaucher Disease Identified in Study

A potential clinical biomarker — a measurable disease indicator in the blood or tissues — for Gaucher disease (GD) may have been identified in a recent study. The study, “Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models,” was a collaborative effort among researchers…