Recombinant Human Glycogen debranching enzyme (AGL), partial

1. This report of patients with GSD-III in Iran with 2 uncommon clinical presentations and 5 novel mutations in the AGL gene. PMID: 29794575
2. The study identified 31 novel mutations and extended the mutation spectrum of AGL in Chinese patients with glycogen storage disease type III. PMID: 26984562
3. Our study establishes HAS2-mediated HA synthesis as a driver of growth of bladder cancer with low AGL and provides preclinical rationale for personalized targeting of HAS2/HA signaling in patients with low amylo-alpha-1-6-glucosidase-4-alpha-glucanotransferase -expressing tumors. PMID: 26490312
4. AGL loss causes high SHMT2 expression and consequently increases glycine-dependent nucleotide synthesis leading to bladder cancer growth. PMID: 26975021
5. Point mutations in AGL gene are associated with glycogen storage disease type IIIa in a Chinese family. PMID: 26252094
6. Haplotype analysis revealed that the mutation arises as a result of founder effect, not an independent event. PMID: 25827695
7. AGL haplotype analyses suggested that c.1019delA and c.958+1G>A are founder mutations in Turkish patients, while p.R864X is a recurrent mutation. PMID: 25451950
8. A homozygous frameshift deletion, c.4456delT, in exon 33 of the AGL gene in Inuit children determines the cause of glycogen storage disease type IIIa and confirms a founder effect. PMID: 25602008
9. study identified 10 different mutations in 8 Korean Glycogen storage disease type III patients; 5 mutations are novel and include 1 nonsense (c.1461G>A, p.W487X), 3 splicing (c.293+4_293+6delAGT in IVS4, c.460+1G>T in IVS5, c.2682-8A>G in IVS21) and 1 missense mutation (c.2591G>C, p.R864P) PMID: 24257475
10. Characterization of a novel homozygous single point mutation at the polypyrimidine tract of intron 21 of the AGL gene in two consanguineous siblings with glycogen storage disease type III. PMID: 23649758
11. We found that most patients with macular telangiectasia-2 possess retinal autoantibodies, the most prevalent of which were directed against AGL, RBP3, and CK-B. PMID: 23882694
12. A founder effect discovered amongst Tunisian patients with glycogen storage disease type III and a c.3216_3217delGA mutation in the AGL gene. PMID: 22035446
13. Mutations in amylo-1,6-glucosidase is associated with Glycogen Storage Disease Type III. PMID: 20648714
14. The present patient was found to be deficient in GDE activity and homozygous for a novel 1 bp deletion in AGL. This mutation is predicted to cause premature termination at codon 834 due to frame shift. PMID: 20158661
15. GSD-III patients have variable phenotypic characteristics. Administration of raw-corn-starch can effectively improve the disease outcome. We identified 8 new mutations on AGL gene through nucleotide sequence analysis. PMID: 15833157
16. Nine AGL mutations: six nonsense mutations , one deletion and two splicing mutation were identified in Turkish GSD III patients. PMID: 19834502
17. Mutations associated with GSD III include R34X and Y1148X. PMID: 11924557
18. it is likely that the AMPK-GDE association is a novel mechanism regulating AMPK activity and the resultant fatty acid oxidation and glucose uptake PMID: 15886229
19. AGL gene mutations may have roles in glycogen storage disease type III PMID: 17047887
20. These results indicate that binding to glycogen crucially regulates the stability of AGL and, further, that its ubiquitination may play an important role in the pathophysiology of both Lafora and Cori's disease. PMID: 17908927
21. Current clinical and molecular knowledge about glycogenosis 3 and phenotype and genotype levels of this enzyme. [REVIEW] PMID: 17915576
22. a homozygous p.W1327X mutation leads to severe generalized glycogenosis types 3a & 3b within the same family; heterozygous p.W1327X mutation carriers may present with mild non-progressive neuromuscular symptoms, such as exercise-induced myalgia & fatigue PMID: 18924225
23. Mutations in the carbohydrate-binding domain of AGL lead to loss of all enzymatic activities and enhancing targeting for proteasomal degradation. PMID: 19299494
24. Six novel AGL mutations were identified. PMID: 19754354

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HGNC: 321

OMIM: 232400

KEGG: hsa:178

STRING: 9606.ENSP00000294724

UniGene: Hs.904