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
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Dellefave-Castillo LM et al.
Jama Cardiology, 2022
35947370 (PubMed )
Supplement: jamacardiol-e222455-s002.xlsx › Supplemental_Table3_rollup
Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature.
Paschall A et al.
Molecular Genetics and Metabolism, 2021
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
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