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Pharmacological chaperones glucocerebrosidase as treatment of Gaucher disease

A. E. Kopytova, M. A. Nikolaev, D. A. Bogdanova, K. A. Senkevich, G. V. Baydakova, O. I. Bolshakova, S. V. Sarantseva, G. N. Rychkov, A. A. Cheblokov, F. M. Ibatullin, I. V. Miliukhina, E. Yu. Zakharova, S. N. Pchelina, A. K. Emelyanov

https://doi.org/10.25557/2073-7998.2020.07.83-84

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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.

Keywords

GBA, Gaucher disease, GCase, Parkinson disease, lysosphingolipids

About the Authors

A. E. Kopytova

Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Россия

M. A. Nikolaev

Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Россия

D. A. Bogdanova

Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Россия

K. A. Senkevich

Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Россия

G. V. Baydakova

Research Centre for Medical Genetics
Россия

O. I. Bolshakova

Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Россия

S. V. Sarantseva

Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Россия

G. N. Rychkov

Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Россия

A. A. Cheblokov

Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Россия

F. M. Ibatullin

Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Россия

I. V. Miliukhina

Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Россия

E. Yu. Zakharova

Research Centre for Medical Genetics
Россия

S. N. Pchelina

Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Россия

A. K. Emelyanov

Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Россия

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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ISSN 2073-7998 (Print)

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About the Authors

A. E. Kopytova
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Россия

M. A. Nikolaev
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Россия

D. A. Bogdanova
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Россия

K. A. Senkevich
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Россия

G. V. Baydakova
Research Centre for Medical Genetics
Россия

O. I. Bolshakova
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Россия

S. V. Sarantseva
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Россия

G. N. Rychkov
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Россия

A. A. Cheblokov
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Россия

F. M. Ibatullin
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Россия

I. V. Miliukhina
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Россия

E. Yu. Zakharova
Research Centre for Medical Genetics
Россия

S. N. Pchelina
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Россия

A. K. Emelyanov
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatoc Institute»
Россия

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