Associated Papers
Neutral sp2-iminosugars exploiting non-glycone interactions for selective acid α- and β-glucosidase activity modulation: Pharmacological chaperones for Gaucher and Pompe diseases.
García-Moreno MI et al.
European Journal of Medicinal Chemistry, 2026
New advances in treating late-onset Pompe Disease: A narrative review.
Khan M et al.
European Journal of Pediatrics, 2025
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Balendran-Braun S et al.
Human Mutation, 2024
Pharmacological Chaperone Therapy for Pompe Disease.
Borie-Guichot M et al.
Molecules (basel, Switzerland), 2021
Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblasts.
Buratti E et al.
Molecular Therapy. Methods & Clinical Development, 2021
Molecular Approaches for the Treatment of Pompe Disease.
Bellotti AS et al.
Molecular Neurobiology, 2020
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
A computational method to characterize the missense mutations in the catalytic domain of GAA protein causing Pompe disease.
Thirumal Kumar D et al.
Journal of Cellular Biochemistry, 2019
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V et al.
Nature Communications, 2017
Investigation on acute effects of enzyme replacement therapy and influence of clinical severity on physiological variables related to exercise tolerance in patients with late onset Pompe disease.
Sechi A et al.
Neuromuscular Disorders : Nmd, 2017
Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study.
Deroma L et al.
European Journal of Pediatrics, 2014
The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe disease.
Khanna R et al.
Plos One, 2014
Pharmacological enhancement of α-glucosidase by the allosteric chaperone N-acetylcysteine.
Porto C et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2012
Systematic structure-activity study on potential chaperone lead compounds for acid α-glucosidase.
Bruckmann C et al.
Chemmedchem, 2012
Endoplasmic reticulum stress induces autophagy through activation of p38 MAPK in fibroblasts from Pompe disease patients carrying c.546G>T mutation.
Shimada Y et al.
Molecular Genetics and Metabolism, 2011
New insights into therapeutic options for Pompe disease.
Richard E et al.
Iubmb Life, 2011
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.
Flanagan JJ et al.
Human Mutation, 2009
Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts.
Cardone M et al.
Pathogenetics, 2008
Therapeutic approaches in glycogen storage disease type II/Pompe Disease.
Schoser B et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2008
Binding parameters and thermodynamics of the interaction of imino sugars with a recombinant human acid alpha-glucosidase (alglucosidase alfa): insight into the complex formation mechanism.
Yoshimizu M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
Molecular genetics of late onset glycogen storage disease II in Italy.
Pittis MG et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease.
Parenti G et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2007
Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease.
Parenti G et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2007
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
Montalvo AL et al.
Human Mutation, 2006