ArticleJournal of human genetics2014
A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III.
Article in Journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 17 citations in OpenAlex.
- Identification of a novel nonsense mutation in the AGL gene in glycogen storage disease type IIIa: first genetically confirmed case report from Morocco.Molecular biology reports · 2025Article
- Genetic diagnosis of Jordanian patients with glycogen storage diseases.Orphanet journal of rare diseases · 2025Article
- Identification of Novel and Recurrent Variants inJournal of clinical medicine · 2024Article
- A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III.The Journal of clinical investigation · 2024Article
- The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III.BMC pediatrics · 2022Article
- Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study.Orphanet journal of rare diseases · 2022Observational
- Prevalence and Complications of Glycogen Storage Disease in South Korea: A Nationwide Population-Based Study, 2007-2018.BioMed research international · 2022Article
- Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases.Molecular genetics & genomic medicine · 2020Article
- Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients.Genes & genomics · 2019Article
- A Novel HomozygousPediatric gastroenterology, hepatology & nutrition · 2017Article
- Crystal structure of glycogen debranching enzyme and insights into its catalysis and disease-causing mutations.Nature communications · 2016Article
- A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa.Case reports in genetics · 2016Article
- A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families.Annals of Saudi medicineArticle
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glycogen storage disease type III (GSD III) is an autosomal recessive disorder that is characterized by the excessive accumulation of abnormal glycogen in the liver and muscles and is caused by a deficiency in glycogen debranching enzyme (amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL)) activity. To investigate the molecular characteristics of GSD III patients in Korea, we have sequenced the AGL gene in eight children with GSD III. All patients were compound heterozygotes. We identified 10 different mutations (five novel and five previously reported). The novel mutations include one nonsense (c.1461G>A, p.W487X), three splicing (c.293+4_293+6delAGT in IVS4, c.460+1G>T in IVS5, c.2682-8A>G in IVS21) and one missense mutation (c.2591G>C, p.R864P). Together, p.R285X, c.1735+1G>T and p.L1139P accounted for 56% of all alleles, while the remaining mutations are heterogeneous. These three mutations can be common in Korea, and further larger studies are needed to confirm our findings.
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