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GAA enzyme deficiency leads to glycogen (显示 GYS1 ELISA试剂盒) 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 (显示 AGLU ELISA试剂盒) and DPP-4 (显示 DPP4 ELISA试剂盒), and on adipocyte differentiation.
Power and torque did not change with age in control animals, but declined significantly in acid 1-4 alpha-glucosidase (显示 AGLU ELISA试剂盒) knockout mice in three age groups.
These studies suggest that hyase enhances penetration of enzyme into the tissues including muscle during ERT (显示 ELF3 ELISA试剂盒) and therefore hyase pretreatment may be important in treating Pompe disease.
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 (显示 AGLU ELISA试剂盒) 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 (显示 CAD ELISA试剂盒)) patients were significantly increased, suggesting that GAA may be involved in the CAD (显示 CAD ELISA试剂盒) 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 (显示 GYS1 ELISA试剂盒) storage disease type II is caused by deficiency of GAA activity resulting from mutation of GAA gene
RT-PCR followed by DNA sequence analysis of patients with Pompe disease revealed new variant in GAA gene resulting in aberrant splicing event.
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.
this study shows several alterations distributed along the GAA gene in a sample of Brazilian families.
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.
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.
acid (Pompe disease, glycogen storage disease type II)
, acid alpha-glucosidase
, acid maltase
, glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)
, lysosomal alpha-glucosidase
, aglucosidase alfa