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GAA encodes acid alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. Additionally we are shipping GAA Antibodies (50) and GAA Kits (16) and many more products for this protein.
Showing 9 out of 14 products:
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.
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
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.
Data shows the largest informative family with late-onset Pompe disease described in the literature showing a peculiar complex set of mutations of GAA gene that may partially elucidate the clinical heterogeneity of this family.
7 of 27 in: Gene. 2014 Mar (show IRF1 Proteins) 1;537(1) Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease.
This study demonstrates that the c.-32-13T>G mutation of GAA gene abrogates the binding of the splicing factor (show SLU7 Proteins) U2AF65 (show U2AF59 Proteins) to the polypyrimidine tract of exon 2 and that several splicing factors affect exon 2 inclusion.
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