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Borie-Guichot M, Tran ML, Génisson Y, et al. Pharmacological Chaperone Therapy for Pompe Disease. Molecules. 2021;26(23)doi: 10.3390/molecules26237223.
Borie-Guichot, M., Tran, M. L., Génisson, Y., Ballereau, S., & Dehoux, C. (2021). Pharmacological Chaperone Therapy for Pompe Disease. Molecules (Basel, Switzerland), 26(23), . https://doi.org/10.3390/molecules26237223
Borie-Guichot, Marc, et al. "Pharmacological Chaperone Therapy for Pompe Disease." Molecules (Basel, Switzerland) vol. 26,23 (2021). doi: https://doi.org/10.3390/molecules26237223
Borie-Guichot M, Tran ML, Génisson Y, Ballereau S, Dehoux C. Pharmacological Chaperone Therapy for Pompe Disease. Molecules. 2021 Nov 29;26(23). doi: 10.3390/molecules26237223. PMID: 34885805.
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Molecules. 2021 Nov 29;26(23). doi: 10.3390/molecules26237223.

Pharmacological Chaperone Therapy for Pompe Disease.

Molecules (Basel, Switzerland)

Marc Borie-Guichot, My Lan Tran, Yves Génisson, Stéphanie Ballereau, Cécile Dehoux

Affiliations

  1. SPCMIB, UMR5068 CNRS-Université Paul Sabatier-Toulouse III, 118 Route de Narbonne, F-31062 Toulouse, France.

PMID: 34885805 DOI: 10.3390/molecules26237223

Abstract

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

Keywords: Pompe disease; lysosomal storage disease; pharmacological chaperone

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