News

Artificial Protein Could Be New Therapeutic Tool for Gaucher Disease

An artificial version of the protein progranulin could reverse most cellular defects found in Gaucher disease, according to study led by researchers at NYU Langone Medical Center. Gaucher disease (GD), a rare condition characterized by the inability of cells to break down fats, presents many symptoms including enlarged spleen and liver, blood disorders, joint…

Animal Study Shows Gaucher Disease Linked to Progressive Neurological, Behavioral Changes

Understanding the progressive changes associated with Gaucher disease (GD) may provide useful information to develop more effective therapies. In recent research, scientists at Cincinnati Children’s Hospital Medical Center used mice to follow the temporal evolution of neurobehavioral dysfunctions and brain pathology triggered by GD. The study “Progression of Behavioral and…

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…