| Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III. | Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III.
Perveen S, Gupta N, Kumar M, Kaur P, Chowdhury MR, Kabra M. | 01/16/2021 |
| Six novel mutations were identified in GSD III patients. | Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients.
Abdullah IS, Teh SH, Khaidizar FD, Ngu LH, Keng WT, Yap S, Mohamed Z. | 01/11/2020 |
| This report of patients with GSD-III in Iran with 2 uncommon clinical presentations and 5 novel mutations in the AGL gene. | Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3.
Nazari F, Sinaei F, Nilipour Y, Petit F, Oveisgharan S, Nassiri-Toosi M, Razzaghy-Azar M, Mahmoudi M, Nafissi S. | 09/22/2018 |
| The study identified 31 novel mutations and extended the mutation spectrum of AGL in Chinese patients with glycogen storage disease type III. | Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.
Lu C, Qiu Z, Sun M, Wang W, Wei M, Zhang X. | 06/3/2017 |
| 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. | Loss of Glycogen Debranching Enzyme AGL Drives Bladder Tumor Growth via Induction of Hyaluronic Acid Synthesis.
Guin S, Ru Y, Agarwal N, Lew CR, Owens C, Comi GP, Theodorescu D., Free PMC Article | 12/17/2016 |
| AGL loss causes high SHMT2 expression and consequently increases glycine-dependent nucleotide synthesis leading to bladder cancer growth. | Metabolic phenotype of bladder cancer.
Massari F, Ciccarese C, Santoni M, Iacovelli R, Mazzucchelli R, Piva F, Scarpelli M, Berardi R, Tortora G, Lopez-Beltran A, Cheng L, Montironi R. | 08/20/2016 |
| Point mutations in AGL gene are associated with glycogen storage disease type IIIa in a Chinese family. | [Analysis of clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa].
Guo L, Lin W, Zhang Z, Zhao X, Zhang S, Cai X, Zhou Q, Song Y. | 11/21/2015 |
| Haplotype analysis revealed that the mutation arises as a result of founder effect, not an independent event. | A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families.
Basit S, Malibari O, Al Balwi AM, Abdusamad F, Abu Ismail F., Free PMC Article | 11/21/2015 |
| 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. | Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey.
Okubo M, Ucar SK, Podskarbi T, Murase T, Shin YS, Coker M. | 08/29/2015 |
| 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. | A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.
Rousseau-Nepton I, Okubo M, Grabs R, FORGE Canada Consortium, Mitchell J, Polychronakos C, Rodd C., Free PMC Article | 06/20/2015 |
| 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) | A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III.
Ko JS, Moon JS, Seo JK, Yang HR, Chang JY, Park SS. | 09/20/2014 |
| 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. | Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.
Ben Rhouma F, Azzouz H, Petit FM, Khelifa MB, Chehida AB, Nasrallah F, Parisot F, Lasram K, Kefi R, Bouyacoub Y, Romdhane L, Baussan C, Kaabachi N, Ben Dridi MF, Tebib N, Abdelhak S. | 02/22/2014 |
| 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. | Anti-retinal antibodies in patients with macular telangiectasia type 2.
Zhu L, Shen W, Zhu M, Coorey NJ, Nguyen AP, Barthelmes D, Gillies MC. | 11/2/2013 |
| A founder effect discovered amongst Tunisian patients with glycogen storage disease type III and a c.3216_3217delGA mutation in the AGL gene. | A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect.
Mili A, Ben Charfeddine I, Amara A, Mamaï O, Adala L, Ben Lazreg T, Bouguila J, Saad A, Limem K, Gribaa M. | 04/13/2013 |
| Observational study of gene-disease association. (HuGE Navigator) | Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanché H, Schreiber S, Nebel A. | 12/5/2010 |
| Mutations in amylo-1,6-glucosidase is associated with Glycogen Storage Disease Type III. | Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.
Goldstein JL, Austin SL, Boyette K, Kanaly A, Veerapandiyan A, Rehder C, Kishnani PS, Bali DS. | 10/23/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| 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. | Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa.
Aoyama Y, Endo Y, Ebara T, Murase T, Shin YS, Podskarbi T, Ozer I, Demirkol M, Gökçay G, Okubo M. | 05/31/2010 |
| 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. | [Mutation analysis of glycogen debrancher enzyme gene in five Chinese patients with glycogen storage disease type III].
Zhuang TF, Qiu ZQ, Wei M, Huang SZ. | 05/10/2010 |
| Nine AGL mutations: six nonsense mutations , one deletion and two splicing mutation were identified in Turkish GSD III patients. | 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.
Aoyama Y, Ozer I, Demirkol M, Ebara T, Murase T, Podskarbi T, Shin YS, Gokcay G, Okubo M. | 03/1/2010 |
| Six novel AGL mutations were identified. | Egyptian glycogen storage disease type III - identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId.
Endo Y, Fateen E, El Shabrawy M, Aoyama Y, Ebara T, Murase T, Podskarbi T, Shin YS, Okubo M. | 01/21/2010 |
| Mutations in the carbohydrate-binding domain of AGL lead to loss of all enzymatic activities and enhancing targeting for proteasomal degradation. | Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions.
Cheng A, Zhang M, Okubo M, Omichi K, Saltiel AR., Free PMC Article | 01/21/2010 |
| 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 | Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3.
Schoser B, Gläser D, Müller-Höcker J. | 01/21/2010 |
| Observational study of genetic testing. (HuGE Navigator) | Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands.
Santer R, Kinner M, Steuerwald U, Kjaergaard S, Skovby F, Simonsen H, Shaiu WL, Chen YT, Schneppenheim R, Schaub J. | 03/13/2008 |
| Current clinical and molecular knowledge about glycogenosis 3 and phenotype and genotype levels of this enzyme. [REVIEW] | Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency.
Lucchiari S, Santoro D, Pagliarani S, Comi GP., Free PMC Article | 01/21/2010 |