Recombinant Human Lysosomal alpha-glucosidase (GAA), partial

1. PI-rhGAA may have the potential to be a useful therapeutic option for improving the treatment of Pompe disease. PMID:29102549
2. The most common mutation was c.-32-13T, G. in Pompe disease. PMID:29181627
3. 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. PMID:29061980
4. 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. PMID:29274340
5. GAA mutation is associated with Pompe disease. PMID:28763149
6. 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 PMID:27238910
7. 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). PMID:27473031
8. 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 PMID:27362911
9. 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. PMID:28657663
10. 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. PMID:28394184
11. 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. PMID:27322221
12. 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. PMID:26580301
13. 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. PMID:26231297
14. glycogen storage disease type II is caused by deficiency of GAA activity resulting from mutation of GAA gene PMID:26575883
15. RT-PCR followed by DNA sequence analysis of patients with Pompe disease revealed new variant in GAA gene resulting in aberrant splicing event. PMID:25243733
16. 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. PMID:25526786
17. this study shows several alterations distributed along the GAA gene in a sample of Brazilian families. PMID:25681614
18. Mutations in acid alpha-glucosidase gene is associated with Pompe disease. PMID:25026126
19. GAA deficiency results in reduced mTORC1 activation that is partly responsible for the skeletal muscle wasting phenotype and can be amerliorated by leucine supplementation. PMID:25231351
20. 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. PMID:24158270
21. 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. PMID:24107549
22. 7 of 27 in: Gene. 2014 Mar 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. PMID:24384324
23. This study demonstrates that the c.-32-13T>G mutation of GAA gene abrogates the binding of the splicing factor U2AF65 to the polypyrimidine tract of exon 2 and that several splicing factors affect exon 2 inclusion. PMID:24150945
24. study describes two unrelated cases affected with classical early-onset Pompe disease, both pertaining to the same small Mexican region, with the same novel homozygous frameshift mutation at gene GAA (c.1987delC) PMID:24399866
25. Mutations in the GAA gene is associated with glycogen storage disease type II. PMID:23884227
26. Adult patients with alpha-glucosidase mutations other than c.-32-13 T>G can have very low alpha-glucosidase activity in fibroblasts but express higher activity in muscle and store less glycogen in muscle than patients with infantile Pompe disease. PMID:23000108
27. Study gave an update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants. PMID:22644586
28. Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients PMID:22658377
29. Report genetic testing to indentify GAA mutations in German patients with late-onset glycogen storage disease type II. PMID:18607768
30. we define a critical role for endoplasmic reticulum stress in the activation of autophagy due to the 546G>T acid alpha glucosidase mutation PMID:21982629
31. No common mutation is found in association with low levels of acid alpha-glucosidase activity in late-onset Pompe disease; most patients produce unprocessed forms of GAA protein compared with patients who have higher GAA activity. PMID:21484825
32. Mutation analysis of the GAA gene revealed the p.D645E in all patients with Pompe disease, suggesting it as the most common mutation in the Thai population. PMID:21039225
33. The enzymatic screening of Pompe disease can be justified in patients with myopathies of unknown etiology in this report of a Mexican patient with late-onset glycogen-storage disease type 2. PMID:20350966
34. Data show that p.R1147G missense mutation impaired glucosidase activity. PMID:19834502
35. Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II PMID:11854868
36. novel target of the Notch-1/Hes-1 signaling pathway PMID:12065598
37. 2 novel mutations of the acid alpha-glucosidase gene, P361L and R437C, were found in a juvenile-onset glycogen storage disease type II (GSDII) 16-year-old Chinese patient. The asymptomatic 13-year-old brother of the proband is also compound heterozygote PMID:12601120
38. mutations in the alpha glucosidase gene is associated with infantile onset glycogen storage disease type II. PMID:12923862
39. Childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn. PMID:15145338
40. data show that the mature forms of GAA characterized by polypeptides of 76 or 70 kDa are in fact larger molecular mass multicomponent enzyme complexes; peptides released during proteolytic processing remained tightly associated with the major species PMID:15520017
41. 2 novel mutations (Ala237Val and Gly293Arg) were foundin the acid alpha-glucosidase gene in a Pompe disease patient with vascular involvement. PMID:15668445
42. Acid-alpha-glucosidase activity and specific activity, and lysosomal glycogen content are useful predictors of age of onset in Pompe disease PMID:15993875
43. Complete molecular analysis of the GAA gene of patients with late onset glycogen storage disease type II shows missense mutations and splicing mutations. PMID:16917947
44. From 14 Argentinean patients diagnosed with either infantile or late-onset disease, we identified 14 distinct mutations in the acid alpha-glucosidase (GAA) gene including nine novel variants. PMID:17056254
45. Two new missense mutations (p.266Pro>Ser and p.439Met>Lys) were new missense mutations causing late onset GSD II. PMID:17092519
46. Patients with the same c.-32-13T-->G haplotype (c.q. GAA genotype) may manifest first symptoms at different ages, indicating that secondary factors may substantially influence the clinical course of patients with this mutation. PMID:17210890
47. demonstrated a significant increase of GAA activity (1.3-7.5-fold) after imino sugar treatment in fibroblasts from patients carrying the mutations L552P (three patients) and G549R (one patient) PMID:17213836
48. N-glycans of recombinant human GAA were expressed in the milk of transgenic rabbits. PMID:17293352
49. The role of autophagy in Pompe disease was examined by analyzing single muscle fibers. PMID:17592248
50. Mutations in glucosidase alpha is asspciated with glycogen storage disease type II PMID:17616415

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HGNC: 4065

UNIGENE: Hs.1437

KEGG: hsa:2548

STRING: 9606.ENSP00000305692

OMIM: 232300