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GAA mutation is associated with Pompe disease.
Enzyme activities (acid alpha-glucosidase (GAA), galactocerebrosidase (GALC (show GALC Proteins)), glucocerebrosidase (GBA (show GBA Proteins)), alpha-galactosidase A (GLA (show GLA Proteins)), alpha-iduronidase (IDUA (show IDUA Proteins)) and sphingomyeline phosphodiesterase-1 (SMPD-1 (show SMPD1 Proteins))) were measured on ~43,000 de-identified dried blood spot (DBS (show MCF2L Proteins)) punches, and screen positive samples were submitted for DNA sequencing to obtain genotype confirmation of disease risk
enzyme replacement therapy (ERT (show ELF3 Proteins)) (alglucosidase alfa) stabilizes respiratory function and improves mobility and muscle strength in late-onset Pompe disease.Lysosomal glycogen (show GYS1 Proteins) in muscle biopsies from treatment-naive LOPD patients was reduced post-ERT (show ELF3 Proteins) (alglucosidase alfa).
In adults with Pompe disease, antibody formation does not interfere with rhGAA efficacy in the majority of patients, is associated with IARs (show IARS Proteins), and may be attenuated by the IVS1/delex18 GAA genotype
Reanalysis of the patient's DNA sample using next generation sequencing (NGS) of a panel of target genes causing glycogen (show GYS1 Proteins) storage disorders demonstrated compound heterozygosity for a point mutation and an exonic deletion in the GAA gene.
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.
This is the first report of the alpha-glucosidase (show AGLU Proteins) 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.
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.
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.
glycogen (show GYS1 Proteins) storage disease type II is caused by deficiency of GAA activity resulting from mutation of GAA gene
the data unequivocally confirm that systemic absence of GAA induces a complex neuropathological cascade in the spinal cord.
GAA enzyme deficiency leads to glycogen (show GYS1 Proteins) accumulation in the trachea and bronchi and impairs the ability of lower airway smooth muscle to regulate calcium and respond appropriately to bronchodilator or constrictors.
GAA deficiency results in reduced mTORC1 activation that is partly responsible for the skeletal muscle wasting phenotype and can be amerliorated by leucine supplementation.
Results describe the inhibitory effects of Chana series chalcone derivatives on the activities of alpha-glucosidase (show AGLU Proteins) and DPP-4 (show DPP4 Proteins), and on adipocyte differentiation.
Power and torque did not change with age in control animals, but declined significantly in acid 1-4 alpha-glucosidase (show AGLU Proteins) knockout mice in three age groups.
These studies suggest that hyase enhances penetration of enzyme into the tissues including muscle during ERT (show ELF3 Proteins) and therefore hyase pretreatment may be important in treating Pompe disease.
The lethal mutation 1057DeltaTA of GAA is present in the Droughtmaster breed, with pathology identical to that reported in pure Brahman animals.
This gene encodes acid alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. Different forms of acid alpha-glucosidase are obtained by proteolytic processing. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Three transcript variants encoding the same protein have been found for this gene.
, aglucosidase alfa
, lysosomal alpha-glucosidase
, transmembrane and coiled-coil domains protein 1
, acid (Pompe disease, glycogen storage disease type II)
, acid alpha-glucosidase
, glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)