Associated Papers
Molecular architecture and catalytic mechanism of human glycogen debranching enzyme.
Guan H et al.
Nature Communications, 2025
40593796 (PubMed )
Supplement: 41467_2025_61077_MOESM2_ESM.pdf
A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III.
Gardin A et al.
The Journal of Clinical Investigation, 2024
Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients.
Abdullah IS et al.
Genes & Genomics, 2019
Crystal structure of glycogen debranching enzyme and insights into its catalysis and disease-causing mutations.
Zhai L et al.
Nature Communications, 2016
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 et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010
[Diagnosis of glycogen storage disease type IIIA by detecting glycogen debranching enzyme activity, glycogen content and structure in muscle].
Wang W et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009
Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions.
Cheng A et al.
Human Molecular Genetics, 2009
A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease.
Cheng A et al.
Genes & Development, 2007
A Japanese patient with cardiomyopathy caused by a novel mutation R285X in the AGL gene.
Ogimoto A et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2007
Glycogen storage disease: clinical, biochemical, and molecular heterogeneity.
Shin YS
Seminars in Pediatric Neurology, 2006
Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.
Lucchiari S et al.
American Journal of Medical Genetics, 2002
Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient.
Okubo M et al.
Human Mutation, 1999
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