ArticleJournal of human genetics2006
Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.
Article in Journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 49 citations in OpenAlex.
- Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort.Biochemical genetics · 2025Article
- Article
- Glycogen storage disease type III: a mixed-methods study to assess the burden of disease.Therapeutic advances in endocrinology and metabolism · 2024Article
- A Functional Human Glycogen Debranching Enzyme Encoded by a Synthetic Gene: Its Implications for Glycogen Storage Disease Type III Management.Protein and peptide letters · 2024Article
- The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III.BMC pediatrics · 2022Article
- Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient.Molecular genetics & genomic medicine · 2021Article
- New approach to prepare fluorogenic branched dextrins for assaying glycogen debranching enzyme.Glycoconjugate journal · 2020Article
- A Novel Gene Therapy Approach for GSD III Using an AAV Vector Encoding a Bacterial Glycogen Debranching Enzyme.Molecular therapy. Methods & clinical development · 2020Article
- Metabolic Profiling in Human Fibroblasts Enables Subtype Clustering in Glycogen Storage Disease.Frontiers in endocrinology · 2020Article
- Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Myopathies Related to Glycogen Metabolism Disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2018Review
- Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China.BMC medical genetics · 2018Article
- Liver Transplantation in a Myopathic Patient with Glycogen Storage Disease Type IIIa and Decompensated Cirrhosis.International journal of organ transplantation medicine · 2017Article
- Skeletal muscle disorders of glycogenolysis and glycolysis.Nature reviews. Neurology · 2016Review
- A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 2015Article
- A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III.Journal of human genetics · 2014Article
- Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.Molecular biology reports · 2013Article
- Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.Orphanet journal of rare diseases · 2012Article
- Markedly elevated serum transaminases in glycogen storage disease type III.Journal of pediatric gastroenterology and nutrition · 2011Article
- Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism.American journal of human genetics · 2011Review
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glycogen storage disease type III (GSD III) is an autosomal recessive disorder characterized by excessive accumulation of abnormal glycogen in the liver and/or muscles and caused by deficiency in the glycogen debranching enzyme (AGL). Previous studies have revealed that the spectrum of AGL mutations in GSD III patients depends on ethnic grouping. We investigated nine GSD III patients from Germany, Canada, Afghanistan, Iran, and Turkey and identified six novel AGL mutations: one nonsense (W255X), three deletions (1019delA, 3202-3203delTA, and 1859-1869del11-bp), and two splicing mutations (IVS7 + 5G > A and IVS21 + 5insA), together with three previously reported ones (R864X, W1327X, and IVS21 + 1G > A). All mutations are predicted to lead to premature termination, which abolishes enzyme activity. Our molecular study on GSD III patients of different ethnic ancestry showed allelic heterogeneity of AGL mutations. This is the first AGL mutation report for German, Canadian, Afghan, Iranian and Turkish populations.
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