Pharmacological chaperones glucocerebrosidase as treatment of Gaucher disease
https://doi.org/10.25557/2073-7998.2020.07.83-84
Abstract
Gaucher disease (GD), caused by GBA mutations, encodes lysosomal enzyme glucocerebrosidase (GCase). Pharmacological chaperones could potentially enhance GCase activity and treat GD and PD linked to mutations in the GBA gene (GBA-PD). Using ABX as pharmacological chaperone for macrophages derived from GD and GBA-PD patients we observed significantly enhanced GCase activity and decrease of HexSph concentration. For the first time was evaluated the effectiveness of chemical modifications of the previously described allosteric pharmacological chaperone.
About the Authors
A. E. Kopytova
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Russian Federation
Russian Federation
M. A. Nikolaev
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Russian Federation
Russian Federation
D. A. Bogdanova
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Russian Federation
Russian Federation
K. A. Senkevich
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Russian Federation
Russian Federation
G. V. Baydakova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
O. I. Bolshakova
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Russian Federation
Russian Federation
S. V. Sarantseva
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Russian Federation
Russian Federation
G. N. Rychkov
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Russian Federation
Russian Federation
A. A. Cheblokov
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Russian Federation
Russian Federation
F. M. Ibatullin
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Russian Federation
Russian Federation
I. V. Miliukhina
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Russian Federation
Russian Federation
E. Yu. Zakharova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
S. N. Pchelina
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Russian Federation
Russian Federation
A. K. Emelyanov
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Russian Federation
Russian Federation
Review
For citations:
Kopytova A.E., Nikolaev M.A., Bogdanova D.A., Senkevich K.A., Baydakova G.V., Bolshakova O.I., Sarantseva S.V., Rychkov G.N., Cheblokov A.A., Ibatullin F.M., Miliukhina I.V., Zakharova E.Yu., Pchelina S.N., Emelyanov A.K. Pharmacological chaperones glucocerebrosidase as treatment of Gaucher disease. Medical Genetics. 2020;19(7):83-84. (In Russ.) https://doi.org/10.25557/2073-7998.2020.07.83-84
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