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PI-rhGAA may have the potential to be a useful therapeutic option for improving the treatment of Pompe disease.
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The most common mutation was c.-32-13T, G. in Pompe disease.
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The narrow substrate-binding pocket of rhGAA is located near the C-terminal ends of beta-strands of the catalytic (beta/alpha)8 domain and shaped by a loop from the N-terminal beta-sheet domain and both inserts I and II.
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This is the first study of rhGAA to differentiate M6P glycans and identify their attachment sites, despite rhGAA already being an approved drug for Pompe disease.
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GAA mutation is associated with Pompe disease.
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Enzyme activities (acid alpha-glucosidase (GAA), galactocerebrosidase (GALC), glucocerebrosidase (GBA), alpha-galactosidase A (GLA), alpha-iduronidase (IDUA) and sphingomyeline phosphodiesterase-1 (SMPD-1)) were measured on ~43,000 de-identified dried blood spot (DBS) punches, and screen positive samples were submitted for DNA sequencing to obtain genotype confirmation of disease risk
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enzyme replacement therapy (ERT) (alglucosidase alfa) stabilizes respiratory function and improves mobility and muscle strength in late-onset Pompe disease.Lysosomal glycogen in muscle biopsies from treatment-naive LOPD patients was reduced post-ERT (alglucosidase alfa).
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In adults with Pompe disease, antibody formation does not interfere with rhGAA efficacy in the majority of patients, is associated with IARs, and may be attenuated by the IVS1/delex18 GAA genotype
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Reanalysis of the patient's DNA sample using next generation sequencing (NGS) of a panel of target genes causing glycogen storage disorders demonstrated compound heterozygosity for a point mutation and an exonic deletion in the GAA gene.
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Thirteen novel and two common GAA mutations were identified in this study. The allelic frequency of c.2662G > T (p.Glu888X) was 23.1% in northern Chinese patients and 4.2% in southern Chinese patients, whereas the allelic frequency of c.1935C >A (p.Asp645Glu) was 20.8% in southern and 3.8% in northern Chinese patients.
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This is the first report of the alpha-glucosidase inhibitory activity of compounds 20, 26, and 29, and the findings support the important role of Eremanthus species as novel sources of new drugs and/or herbal remedies for treatment of type 2 diabetes.
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Compared with controls, GAA gene expression levels in coronary artery disease (CAD) patients were significantly increased, suggesting that GAA may be involved in the CAD development.
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Study reports on the clinical, biochemical, morphological, muscle imaging, and genetic findings of six adult Pompe patients from five unrelated families with the c.-32-13T>G GAA gene mutation in homozygous state. All patients had decreased GAA activity and elevated creatine kinase levels.
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glycogen storage disease type II is caused by deficiency of GAA activity resulting from mutation of GAA gene
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RT-PCR followed by DNA sequence analysis of patients with Pompe disease revealed new variant in GAA gene resulting in aberrant splicing event.
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Findings indicate that GAA c.2238G > C (p.W746C) novel mutation is the most common mutation in mainland Chinese late-onset Pompe patients, as observed in Taiwanese patients expanding the genetic spectrum of the disease.
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this study shows several alterations distributed along the GAA gene in a sample of Brazilian families.
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Mutations in acid alpha-glucosidase gene is associated with Pompe disease.
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GAA deficiency results in reduced mTORC1 activation that is partly responsible for the skeletal muscle wasting phenotype and can be amerliorated by leucine supplementation.
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The phenotype LO-GSDII with GAA mutation in the North of Italy seems not significantly different from other LO-GSDII populations in Europe or the USA.
