G.P.8.05 The pharmacological chaperone AT2220 increases mutant acid alpha-glucosidase levels and reduces tissue glycogen in a mouse model of Pompe disease

2009 ◽  
Vol 19 (8-9) ◽  
pp. 592 ◽  
Author(s):  
R. Khanna ◽  
R. Soksa ◽  
J. Feng ◽  
Y. Lun ◽  
A.C. Powe ◽  
...  
Keyword(s):  
Mouse Model ◽  
Pompe Disease ◽  
Pharmacological Chaperone ◽  
Alpha Glucosidase

scholarly journals The Pharmacological Chaperone AT2220 Increases Recombinant Human Acid α-Glucosidase Uptake and Glycogen Reduction in a Mouse Model of Pompe Disease

PLoS ONE ◽  
2012 ◽  
Vol 7 (7) ◽  
pp. e40776 ◽  
Author(s):  
Richie Khanna ◽  
John J. Flanagan ◽  
Jessie Feng ◽  
Rebecca Soska ◽  
Michelle Frascella ◽  
...  
Keyword(s):  
Mouse Model ◽  
Pompe Disease ◽  
Pharmacological Chaperone ◽  
Human Acid

scholarly journals Pharmacological Chaperone Therapy for Pompe Disease

Molecules ◽  
2021 ◽  
Vol 26 (23) ◽  
pp. 7223
Author(s):  
Marc Borie-Guichot ◽  
My Lan Tran ◽  
Yves Génisson ◽  
Stéphanie Ballereau ◽  
Cécile Dehoux
Keyword(s):  
Motor Neurons ◽  
Pompe Disease ◽  
Storage Disease ◽  
Protein Stabilization ◽  
Lysosomal Storage ◽  
Pharmacological Chaperone ◽  
Pharmacological Chaperones ◽  
Enzyme Replacement ◽  
Alpha Glucosidase ◽  
Gaa Gene

Pompe disease (PD), a lysosomal storage disease, is caused by mutations of the GAA gene, inducing deficiency in the acid alpha-glucosidase (GAA). This enzymatic impairment causes glycogen burden in lysosomes and triggers cell malfunctions, especially in cardiac, smooth and skeletal muscle cells and motor neurons. To date, the only approved treatment available for PD is enzyme replacement therapy (ERT) consisting of intravenous administration of rhGAA. The limitations of ERT have motivated the investigation of new therapies. Pharmacological chaperone (PC) therapy aims at restoring enzymatic activity through protein stabilization by ligand binding. PCs are divided into two classes: active site-specific chaperones (ASSCs) and the non-inhibitory PCs. In this review, we summarize the different pharmacological chaperones reported against PD by specifying their PC class and activity. An emphasis is placed on the recent use of these chaperones in combination with ERT.

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