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Comparison of the efficacy of drugs aimed at restoring glucocerebrosidase activity in Parkinson’s disease associated with GBA1 mutations in patient-specific cells
https://doi.org/10.25557/2073-7998.2025.05.59-62
Abstract
There is currently no neuroprotective therapy for Parkinson’s disease (PD). PD associated with mutations in the GBA1 gene (GBA1-PD), which is the most common form of PD with a known etiology, is considered the most promising for the development of target therapy. Currently, clinical trials of pharmacological chaperones (PC) aimed at increasing the activity of glucocerebrosidase (GCase), encoded by the GBA1 gene, as well as inhibitors of leucine-rich repeat kinase 2 (LRRK2) are underway for the treatment of PD. In this study, we compared the efficacy of the LRRK2 kinase inhibitor, MLi-2, with the known PCs of GCase, ambroxol and NCGC00241607 (N07), in restoring GCase activity in primary culture of macrophages from patients with GBA1-PD.
About the Authors
K. S. Basharova
Petersburg Nuclear Physics Institute named after B.P. Konstantinov of National Research Centre «Kurchatov Institute»;
I.P. Pavlov First Saint-Petersburg State Medical University
Russian Federation
Russian Federation
Mkr. Orlova Rostcha, Gatchina, Leningradskaya Oblast, 188300, Russian Federation
6/8, L.Tolstogo st., St. Petersburg, 197101, Russian Federation
A. E. Kopytova
Petersburg Nuclear Physics Institute named after B.P. Konstantinov of National Research Centre «Kurchatov Institute»;
I.P. Pavlov First Saint-Petersburg State Medical University
Russian Federation
Russian Federation
Mkr. Orlova Rostcha, Gatchina, Leningradskaya Oblast, 188300, Russian Federation
6/8, L.Tolstogo st., St. Petersburg, 197101, Russian Federation
A. I. Bezrukova
Petersburg Nuclear Physics Institute named after B.P. Konstantinov of National Research Centre «Kurchatov Institute»;
I.P. Pavlov First Saint-Petersburg State Medical University
Russian Federation
Russian Federation
Mkr. Orlova Rostcha, Gatchina, Leningradskaya Oblast, 188300, Russian Federation
6/8, L.Tolstogo st., St. Petersburg, 197101, Russian Federation
A. V. Rybakov
N.P. Bechtereva Institute of the Human Brain, Russian Academy of Sciences
Russian Federation
Russian Federation
9, akad. Pavlova st., St. Petersburg, 197022, Russian Federation
E. Yu. Zakharova
Petersburg Nuclear Physics Institute named after B.P. Konstantinov of National Research Centre «Kurchatov Institute»;
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Mkr. Orlova Rostcha, Gatchina, Leningradskaya Oblast, 188300, Russian Federation
1, Moskvorechie st., Moscow, 115522, Russian Federation
T. S. Usenko
Petersburg Nuclear Physics Institute named after B.P. Konstantinov of National Research Centre «Kurchatov Institute»;
I.P. Pavlov First Saint-Petersburg State Medical University
Russian Federation
Russian Federation
Mkr. Orlova Rostcha, Gatchina, Leningradskaya Oblast, 188300, Russian Federation
6/8, L.Tolstogo st., St. Petersburg, 197101, Russian Federation
S. N. Pchelina
Petersburg Nuclear Physics Institute named after B.P. Konstantinov of National Research Centre «Kurchatov Institute»;
I.P. Pavlov First Saint-Petersburg State Medical University
Russian Federation
Russian Federation
Mkr. Orlova Rostcha, Gatchina, Leningradskaya Oblast, 188300, Russian Federation
6/8, L.Tolstogo st., St. Petersburg, 197101, Russian Federation
References
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Review
For citations:
Basharova K.S., Kopytova A.E., Bezrukova A.I., Rybakov A.V., Zakharova E.Yu., Usenko T.S., Pchelina S.N. Comparison of the efficacy of drugs aimed at restoring glucocerebrosidase activity in Parkinson’s disease associated with GBA1 mutations in patient-specific cells. Medical Genetics. 2025;24(5):59-62. (In Russ.) https://doi.org/10.25557/2073-7998.2025.05.59-62
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