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Amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase

Glycogen Debranching Enzyme, AGL, amylo-1,6-glucosidase
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. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: ACID, CAN, HAD, fibrillin-1, Alpha-1
Papers on Glycogen Debranching Enzyme
History of settlement of villages from Central Tunisia by studying families sharing a common founder Glycogenosis type III mutation.
Kefi et al., Tunisia. In Mitochondrial Dna, Jan 2016
UNASSIGNED: Glycogen storage disease type III (GSD III; Cori disease; Forbes disease) is an autosomal recessive inherited metabolic disorder resulting from deficient glycogen debrancher enzyme activity in liver and muscle.
Genome-wide association study on progression of carotid artery intima media thickness over 10 years in a Chinese cohort.
Wu et al., Beijing, China. In Atherosclerosis, Nov 2015
However, using MLM, after adjusting for age, sex, number of cigarettes smoked per day, systolic blood pressure, use of antihypertensive drugs in the past 2 weeks, serum cholesterol, body mass index, fasting glucose levels, use of insulin or hypoglycemic drugs, time of measuring IMT and its interaction with SNP, we identified two novel SNPs (rs36071027 in EBF1 gene on chromosome 5 and rs975809 close to PCDH15 gene on chromosome 10) that are significantly associated with carotid IMT at genome level (p < 1 × 10(-7)) and seven novel SNPs (rs2230307 in AGL gene on chromosome 1, rs12040273 in GALNT2 gene on chromosome 1, rs4536103 in NEUROG3 gene on chromosome 10, rs9855415 in LOC647323 gene on chromosome 3, rs2472647 in PCDHGA1 gene on chromosome 5, rs17433780 in GBP3 gene on chromosome 1, and rs7625806 in DLEC1 gene on chromosome 3) which are suggestive of significant association (p < 10(-5)).
Loss of Glycogen Debranching Enzyme AGL Drives Bladder Tumor Growth via Induction of Hyaluronic Acid Synthesis.
Theodorescu et al., Milano, Italy. In Clin Cancer Res, Nov 2015
PURPOSE: We demonstrated that amylo-alpha-1-6-glucosidase-4-alpha-glucanotransferase (AGL) is a tumor growth suppressor and prognostic marker in human bladder cancer.
Novel players in the AP2-miR172 regulatory network for common bean nodulation.
Hernández et al., Mexico. In Plant Signal Behav, Nov 2015
The intricate regulatory network for floral organogenesis in plants that includes AP2/ERF, SPL and AGL transcription factors, miR172 and miR156 along with other components is well documented, though its complexity and size keep increasing.
The mysterious nature of bacterial surface (gliding) motility: A focal adhesion-based mechanism in Myxococcus xanthus.
Mignot et al., Marseille, France. In Semin Cell Dev Biol, Oct 2015
The available body of research suggests that M. xanthus gliding motility is mediated by trafficked multi-protein (Glt) cell envelope complexes, powered by proton-driven flagellar stator homologues (Agl).
The concurrent validity of three computerized methods of muscle activity onset detection.
Gutierrez et al., New York City, United States. In J Electromyogr Kinesiol, Oct 2015
The simple threshold (STH), approximated generalized likelihood-step (AGL-step), and k-means (KM) algorithms are more repeatable and less laborious but require validation for gait speeds encountered in clinical research.
[Analysis of clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa].
Song et al., Guangzhou, China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, Aug 2015
OBJECTIVE: To investigate the clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa (GSD IIIa).
Development of an Agrobacterium-mediated transformation system for the cold-adapted fungi Pseudogymnoascus destructans and P. pannorum.
Chaturvedi et al., Albany, United States. In Fungal Genet Biol, Aug 2015
A Uracil-Specific Excision Reagent (USER) Friendly pRF-HU2 vector containing Pd or Pp ure1::hygromycin (HYG) disruption cassette was introduced into A. tumefaciens AGL-1 cells by electroporation and the resulting strains were co-cultivated with conidia of Pd or Pp for various durations and temperatures to optimize the ATMT system.
Targeting glycogen metabolism in bladder cancer.
Theodorescu et al., Aurora, United States. In Nat Rev Urol, Jul 2015
New research shows that the glycogen debranching enzyme amylo-α-1,6-glucosidase, 4-α-glucanotransferase (AGL) is a novel tumour suppressor in bladder cancer.
A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.
Rodd et al., Tokyo, Japan. In Cmaj, Mar 2015
BACKGROUND: Glycogen storage disease type III is caused by mutations in both alleles of the AGL gene, which leads to reduced activity of glycogen-debranching enzyme.
A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families.
Abu Ismail et al., Medina, Saudi Arabia. In Ann Saudi Med, 2014
AGL encodes amylo-a-1, 6-glucosidase, 4-a-glucanotransferase, a glycogen debranching enzyme.
Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies.
Nolis, Canada. In J Hum Genet, 2014
Autoimmune causes are particularly noted in acquired partial lipodystrophy (APL)-Barraquer-Simons syndrome and in AGL-Lawrence syndrome; panniculitis has been shown to have a substantial role in the former as well as in other forms of localized lipodystrophies.
Inhibition of glycogen phosphorylase in the context of type 2 diabetes, with focus on recent inhibitors bound at the active site.
Vidal et al., Villeurbanne, France. In Mini Rev Med Chem, 2010
A study of glucagon-induced glucose production in primary rat hepatocytes has suggested that amylo-1,6-glucosidase inhibitors in combination with GPis may lower glucose level in T2DM.
Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.
Bali et al., Durham, United States. In Genet Med, 2010
Mutations in amylo-1,6-glucosidase is associated with Glycogen Storage Disease Type III.
Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa.
Okubo et al., Tokyo, Japan. In Pediatr Int, 2010
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.
Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.
Okubo et al., Tokyo, Japan. In J Hum Genet, 2009
Nine AGL mutations: six nonsense mutations , one deletion and two splicing mutation were identified in Turkish GSD III patients.
(111)In-Tetraazacyclododecane-N,N',N'',N'''-tetraacetic acid-c(D-Cys-Phe-Tyr-D-AgI(8)(Me,2-naphthoyl)-Lys-Thr-Phe-Cys)-OH
Leung, Bethesda, United States. In Unknown Journal, 2009
One of them, c(D-Cys-Phe-Tyr-D-Agl(8)(Me,2-naphthoyl)-Lys-Thr-Phe-Cys)-OH (sst3-ODN-8), was found to be a selective sst3 antagonist.
Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions.
Saltiel et al., Ann Arbor, United States. In Hum Mol Genet, 2009
Mutations in the carbohydrate-binding domain of AGL lead to loss of all enzymatic activities and enhancing targeting for proteasomal degradation.
Assessment of estrogenic recruitment before chemotherapy in advanced breast cancer: a double-blind randomized study. European Organization for Research and Treatment of Cancer Breast Cancer Cooperative Group.
Mignolet et al., Leuven, Belgium. In J Clin Oncol, 1993
PATIENTS AND METHODS: The therapeutic regimen consisted of (1) estrogen suppression by aminoglutethimide (AGL) 1 g/d plus hydrocortisone (HC) 40 mg/d, with surgical castration performed on premenopausal patients; (2) fluorouracil (5-FU) 500 mg/m2, doxorubicin 50 mg/m2, and cyclophosphamide (CPA) 500 mg/m2 (FAC) intravenously (IV) every 3 weeks; (3) following randomization, patients were double-blinded to receive either PL or EE2 50 micrograms exactly 24 hours before receiving FAC.
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