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The study identified 31 novel mutations and extended the mutation spectrum of AGL in Chinese patients with glycogen (show GYS1 ELISA Kits) storage disease type III.
Our study establishes HAS2 (show HAS2 ELISA Kits)-mediated HA synthesis as a driver of growth of bladder cancer with low AGL and provides preclinical rationale for personalized targeting of HAS2 (show HAS2 ELISA Kits)/HA signaling in patients with low amylo-alpha-1-6-glucosidase-4-alpha-glucanotransferase -expressing tumors.
AGL loss causes high SHMT2 (show SHMT2 ELISA Kits) expression and consequently increases glycine-dependent nucleotide synthesis leading to bladder cancer growth.
Point mutations in AGL gene are associated with glycogen (show GYS1 ELISA Kits) storage disease type IIIa in a Chinese family.
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.
A homozygous frameshift deletion, c.4456delT, in exon 33 of the AGL gene in Inuit children determines the cause of glycogen (show GYS1 ELISA Kits) storage disease type IIIa and confirms a founder effect.
study identified 10 different mutations in 8 Korean Glycogen (show GYS1 ELISA Kits) 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)
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 (show GYS1 ELISA Kits) storage disease type III.
We found that most patients with macular telangiectasia-2 possess retinal autoantibodies, the most prevalent of which were directed against AGL, RBP3 (show E2F1 ELISA Kits), and CK-B.
A founder effect discovered amongst Tunisian patients with glycogen (show GYS1 ELISA Kits) storage disease type III and a c.3216_3217delGA mutation in the AGL gene.
This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described.
amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III)
, glycogen debranching enzyme
, amylo-1, 6-glucosidase, 4-alpha-glucanotransferase
, amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
, glycogen storage disease type III
, glycogen debrancher
, amylo-1,6-glucosidase, 4-alpha-glucanotransferase
, Glycogen debrancher