Affinage

AGL

Glycogen debranching enzyme · UniProt P35573

Length
1532 aa
Mass
174.8 kDa
Annotated
2026-06-09
62 papers in source corpus 12 papers cited in narrative 12 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

AGL encodes the glycogen debranching enzyme (GDE), a bifunctional cytoplasmic enzyme that carries two distinct catalytic activities—a 1,4-alpha-glucan transferase and an amylo-1,6-glucosidase—both required for the final steps of glycogen breakdown (PMID:8954797). These two activities reside in separable functional domains, since point mutations can selectively abolish glucosidase activity while sparing the transferase (PMID:19834502). A C-terminal glycogen-binding domain is essential for enzyme function and stability: deletion of this region causes severe multi-tissue glycogen accumulation in vivo (PMID:25092169), and glycogen binding itself stabilizes AGL, with a glycogen-binding-deficient variant showing reduced stability rescued by proteasome inhibition (PMID:17908927). AGL stability is further governed by the E3 ubiquitin ligase Malin, which physically binds AGL and promotes its ubiquitination, while glycogen depletion drives partial nuclear relocalization and proteasomal degradation (PMID:17908927). The enzyme has tissue-specific physiological roles directed in part by alternative promoters: hepatic GDE governs systemic blood glucose homeostasis, whereas muscle GDE is required for neuromuscular function, as shown by tissue-targeted gene rescue in Agl knockout mice (PMID:8954797, PMID:29396266). Loss of AGL function causes glycogen storage disease type III, and structure-guided AAV gene-replacement strategies—including an N-terminally truncated mini-GDE—correct glycogen accumulation and functional deficits across mouse, rat, and human cellular models (PMID:38015640). Beyond glycogen metabolism, AGL acts as a tumor suppressor: its loss in bladder and lung cancer upregulates HAS2-driven hyaluronic acid synthesis, which signals through CD44 and RHAMM to promote tumor growth and suppress apoptosis (PMID:26490312, PMID:27595989, PMID:29682180), and germline or urothelium-specific Agl knockout mice show increased carcinogen-induced bladder cancer incidence (PMID:30403777).

Mechanistic history

Synthesis pass · year-by-year structured walk · 11 steps
  1. 1996 Medium

    Established that AGL encodes a single multifunctional enzyme with two distinct catalytic activities and tissue-specific isoform expression driven by alternative promoters, defining the molecular basis of glycogen debranching.

    Evidence Gene cloning, structural analysis, and promoter reporter assays in HepG2, C2C12, and CHO cells

    PMID:8954797

    Open questions at the time
    • Did not map which residues carry each catalytic activity
    • Did not establish regulation of isoform switching in vivo
  2. 2000 Medium

    Showed that an intronic splice-site mutation abolishes AGL activity through exon skipping and cryptic splice-site activation, defining a splicing mechanism of disease.

    Evidence Patient-derived mRNA sequence analysis with family mutational analysis

    PMID:10925384

    Open questions at the time
    • No in vitro reconstitution of the aberrant transcript's protein product
    • Single case
  3. 2007 High

    Identified Malin as an E3 ligase partner of AGL and demonstrated that glycogen binding stabilizes AGL while glycogen depletion triggers nuclear relocalization and proteasomal degradation, linking glycogen status to enzyme turnover.

    Evidence Co-IP, ubiquitination assays, proteasome-inhibitor rescue, immunofluorescence in HepG2 cells, and mouse fasting/refeeding experiments

    PMID:17908927

    Open questions at the time
    • Functional consequence of nuclear-localized AGL not defined
    • Ubiquitination sites on AGL not mapped
  4. 2009 Medium

    Demonstrated that the glucosidase and transferase activities are genetically and biochemically separable, since a single missense mutation can abolish glucosidase activity alone.

    Evidence In vitro transferase and glucosidase enzyme assays on patient p.R1147G protein

    PMID:19834502

    Open questions at the time
    • No structural model localizing the mutation to the glucosidase active site
    • Single case, no independent replication
  5. 2014 Medium

    Established in vivo that the C-terminal glycogen-binding domain is required for glycogenolysis across multiple tissues including the CNS, connecting glycogen binding to enzyme function organism-wide.

    Evidence C-terminal-deletion Agl knockout mouse with biochemical, histological, EM, and functional assays

    PMID:25092169

    Open questions at the time
    • Did not separate loss of binding from loss of catalysis
    • Single lab
  6. 2015 Medium

    Revealed a non-metabolic tumor-suppressive function: AGL loss drives bladder tumor growth via HAS2-mediated hyaluronic acid synthesis.

    Evidence siRNA/shRNA knockdown, 4-methylumbelliferone inhibition, xenograft assays, and patient dataset correlation

    PMID:26490312

    Open questions at the time
    • Mechanism by which AGL restrains HAS2 expression not defined
    • Single lab
  7. 2016 Medium

    Placed CD44 and RHAMM downstream of AGL-loss-driven HA synthesis, identifying the receptor arm that promotes growth and suppresses apoptosis.

    Evidence siRNA knockdown of HAS2/CD44/RHAMM, apoptosis Western blots, TUNEL, soft-agar assays in bladder cancer cells

    PMID:27595989

    Open questions at the time
    • Downstream signaling effectors of CD44/RHAMM not resolved
    • Single lab
  8. 2017 High

    Defined tissue-specific physiological roles by showing hepatic GDE controls systemic glucose homeostasis while muscle GDE controls neuromuscular function.

    Evidence AAV tissue-targeted gene transfer in Agl knockout mice with glucose, muscle-strength, and glycogen readouts plus a GAA negative control

    PMID:29396266

    Open questions at the time
    • CNS contribution to phenotype not separately addressed
    • Long-term durability of rescue not assessed
  9. 2018 Medium

    Extended the AGL→HAS2→HA→RHAMM tumor-suppressive pathway to non-small cell lung cancer, indicating a generalizable mechanism beyond bladder.

    Evidence shRNA/siRNA knockdown, 4MU inhibition, soft-agar and xenograft assays, patient dataset analysis

    PMID:29682180

    Open questions at the time
    • Relative contribution of CD44 vs RHAMM in lung not resolved
    • Single lab
  10. 2019 High

    Provided direct in vivo genetic proof of AGL tumor suppression in the urothelium and derived an 'Agl Loss' transcriptional signature.

    Evidence Germline and urothelium-specific conditional Agl knockout mice with BBN carcinogen challenge and tumor RNA sequencing

    PMID:30403777

    Open questions at the time
    • Whether HAS2/HA axis drives the in vivo tumor phenotype not directly tested in this model
    • Signature not validated prospectively
  11. 2024 High

    Demonstrated that the N-terminal region is dispensable, enabling a mini-GDE gene therapy that corrects glycogen accumulation and functional deficits across mouse, rat, and human cell models of GSDIII.

    Evidence Molecular modeling, truncation mutagenesis, rAAV gene transfer in Agl knockout mice and rats, and a human skeletal muscle cell model

    PMID:38015640

    Open questions at the time
    • Function of the dispensable N-terminal region not defined
    • Durability and immunogenicity in humans not established

Open questions

Synthesis pass · forward-looking unresolved questions
  • The molecular mechanism by which AGL loss transcriptionally upregulates HAS2, and how glycogen-metabolic versus tumor-suppressive functions are connected, remain unresolved.
  • No mechanistic link between AGL enzymatic activity and HAS2 regulation
  • No structure of full-length AGL
  • Role of nuclear AGL undefined

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140097 catalytic activity, acting on DNA 3 GO:0016740 transferase activity 2 GO:0016787 hydrolase activity 2
Localization
GO:0005829 cytosol 2 GO:0005634 nucleus 1
Pathway
R-HSA-1430728 Metabolism 3 R-HSA-1643685 Disease 3
Partners
NHLRC1

Evidence

Reading pass · 12 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2007 The E3 ubiquitin ligase Malin physically interacts with AGL and promotes its ubiquitination. The disease-causing G1448R variant of AGL is unable to bind glycogen, shows decreased protein stability rescued by proteasomal inhibition, and forms aggresomes upon proteasome impairment, indicating that glycogen binding is required for AGL stability. Stimulation with cAMP-elevating agents increases Malin levels and Malin/AGL complex formation. After glycogen depletion, AGL redistributes from cytoplasm to partial nuclear localization in ~90% of transfected HepG2 cells. Refeeding mice after an overnight fast reduces hepatic AGL levels by 48%, consistent with ubiquitin-mediated degradation. Co-immunoprecipitation, transfection studies in HepG2 cells, proteasome inhibitor rescue, immunofluorescence localization, in vivo mouse refeeding/fasting experiments, ubiquitination assays Genes & development High 17908927
1996 The human AGL gene encodes a multifunctional enzyme with two distinct catalytic activities: 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase (transferase) and amylo-1,6-glucosidase (glucosidase), both required for glycogen debranching. The gene contains at least two promoter regions conferring tissue-specific isoform expression: promoter 1 (for isoform 1) is active in liver, muscle, and ovary cells, while promoter 2 (for muscle-specific isoforms 2–4) is active only in muscle, as demonstrated by reporter assays. Gene cloning and structural analysis, reporter (promoter) assays in HepG2, C2C12, and CHO cells, mRNA isoform characterization Genomics Medium 8954797
2009 A missense mutation p.R1147G in AGL selectively abolishes glucosidase activity while maintaining transferase activity in vitro, demonstrating that these two catalytic activities reside in separable functional domains and that isolated glucosidase deficiency can result from a single missense mutation. In vitro enzyme activity assays (transferase and glucosidase) on mutant protein from a patient homozygous for p.R1147G, confirmed by clinical diagnosis of isolated glucosidase deficiency Journal of human genetics Medium 19834502
2015 Loss of AGL in bladder cancer cells drives tumor growth through upregulation of hyaluronic acid synthase 2 (HAS2)-mediated hyaluronic acid (HA) synthesis. siRNA-mediated depletion of HAS2 or pharmacological inhibition of HA synthesis (4-methylumbelliferone) abrogated anchorage-dependent and independent growth, as well as xenograft growth, of AGL-low bladder cancer cells. AGL and HAS2 mRNA expression are inversely correlated in patient datasets. shRNA/siRNA knockdown, xenograft tumor growth assays, pharmacological inhibition (4MU), transcriptional profiling, clinicopathologic dataset analysis Clinical cancer research Medium 26490312
2016 In bladder cancer cells with low AGL expression, HA synthesized by HAS2 signals through receptors CD44 and RHAMM to promote anchorage-dependent and independent growth and suppress apoptosis. Loss of CD44 or RHAMM individually induces apoptosis (evidenced by cleaved Cas3, Cas9, PARP, and TUNEL staining) in AGL-low bladder cancer cell lines, placing CD44 and RHAMM downstream of AGL loss → HAS2 → HA in this tumor growth pathway. siRNA knockdown of HAS2, CD44, RHAMM; Western blot for apoptosis markers; TUNEL assay; proliferation and soft-agar assays; clinicopathologic analysis of patient datasets BMC cancer Medium 27595989
2017 AAV-mediated restoration of GDE (AGL) expression in liver directly impacts blood glucose levels, while restoration in muscle rescues functional deficits (muscle weakness) without affecting glucose metabolism, establishing tissue-specific roles for GDE: hepatic GDE governs systemic glucose homeostasis and muscle GDE is required for neuromuscular function. Overexpression of the lysosomal enzyme GAA reduced liver glycogen but failed to reverse the overall GSDIII disease phenotype. AAV vector-mediated gene transfer in Agl knockout mice; tissue-specific expression constructs; functional assays (blood glucose, muscle strength); histological and biochemical quantification of glycogen Molecular therapy High 29396266
2018 Loss of AGL in non-small cell lung cancer (NSCLC) cells promotes anchorage-independent and xenograft tumor growth through upregulation of HAS2-driven HA synthesis, with HA signaling through RHAMM being critical for growth of AGL-low NSCLC cells, extending the AGL → HAS2 → HA → RHAMM tumor-suppressive pathway to a second cancer type. shRNA knockdown of AGL; siRNA knockdown of HAS2 and RHAMM; pharmacological inhibition of HA synthesis (4MU); soft-agar and xenograft growth assays; patient dataset analysis Oncotarget Medium 29682180
2019 Germline Agl knockout mice (with urothelium-specific conditional knockout also generated) show increased bladder cancer incidence upon carcinogen (BBN) treatment compared to wild-type, establishing a direct in vivo tumor-suppressive role for AGL in the urothelium. RNA sequencing of tumors from Agl−/− mice identified 19 differentially expressed genes, enabling derivation of an 'Agl Loss' gene signature. Germline Agl knockout mouse generation; urothelium-specific conditional knockout (Uroplakin II-Cre); BBN carcinogen treatment; histopathological assessment of bladder cancer incidence; RNA sequencing Carcinogenesis High 30403777
2024 An N-terminal-truncated AGL mutant (ΔNter2-GDE) retains full enzymatic efficacy in vivo, demonstrating that the N-terminal region of GDE is dispensable for glycogen debranching function. rAAV vectors expressing this mini-GDE significantly reduced glycogen accumulation in heart and muscle of Agl−/− mice and corrected histological and functional deficits (including normalization of muscle strength) in both mouse and rat Agl knockout models, and also corrected glycogen accumulation in a human skeletal muscle cellular model of GSDIII. Molecular modeling and truncation mutagenesis; rAAV-mediated in vivo gene transfer in Agl−/− mice and rats; glycogen quantification; histological analysis; muscle strength testing; in vitro human skeletal muscle cell model correction The Journal of clinical investigation High 38015640
2014 Deletion of the carboxy terminus of AGL (including the glucosidase domain C-terminus and the glycogen-binding domain) in an Agl knockout mouse results in severe glycogen accumulation in liver, skeletal muscle, heart, diaphragm, tongue, and central nervous system, with disruption of contractile units, exercise intolerance, kyphosis, and accelerated respiratory rate, establishing that the glycogen-binding domain is required for normal glycogenolysis in multiple tissues including the CNS. Knockout mouse generation (carboxy-terminal deletion); biochemical glycogen quantification; histology and electron microscopy; functional testing (exercise tolerance, respiratory rate) Biochimica et biophysica acta Medium 25092169
2000 The IVS33+5G>A splice-site mutation in AGL causes aberrant mRNA splicing — specifically skipping of exon 33 and activation of a cryptic splice site in exon 34 — as demonstrated by mRNA sequence analysis of the patient, establishing a mechanism by which an intronic mutation abolishes AGL enzyme activity. mRNA sequence analysis of patient-derived transcript; family mutational analysis to confirm allele origin American journal of medical genetics Medium 10925384
2023 Two novel AGL missense variants (p.Y495C and p.D661Y) reduce glycogen debranching enzyme activity and increase intracellular glycogen content when expressed in transfected cells, while the mutant proteins retain cytoplasmic localization indistinguishable from wild-type AGL, indicating that these mutations impair catalytic function without disrupting subcellular targeting. Cellular functional validation: transfection of wild-type and mutant AGL constructs, intracellular glycogen content measurement, immunofluorescence for subcellular localization; bioinformatics structural analysis International journal of endocrinology Low 37287601

Source papers

Stage 0 corpus · 62 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2019 AGL-Score: Algebraic Graph Learning Score for Protein-Ligand Binding Scoring, Ranking, Docking, and Screening. Journal of chemical information and modeling 147 31257871
2007 A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease. Genes & development 81 17908927
2012 N-glycosylation of Haloferax volcanii flagellins requires known Agl proteins and is essential for biosynthesis of stable flagella. Journal of bacteriology 67 22730124
1996 Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region. Genomics 67 8954797
2006 Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey. Journal of human genetics 41 17047887
2010 Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III. Genetics in medicine : official journal of the American College of Medical Genetics 38 20648714
2017 Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression. Molecular therapy : the journal of the American Society of Gene Therapy 31 29396266
2006 Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL. Human mutation 31 16705713
2014 Glycogen storage disease type III: A novel Agl knockout mouse model. Biochimica et biophysica acta 27 25092169
2004 Tyrphostin AGL-2043 eluting stent reduces neointima formation in porcine coronary arteries. Cardiovascular research 27 15364624
2002 Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area. American journal of medical genetics 26 11977176
1984 Expression of murine leukemia viruses in B-cell lymphomas of CWD/Agl mice. Journal of virology 26 6092692
2015 Loss of Glycogen Debranching Enzyme AGL Drives Bladder Tumor Growth via Induction of Hyaluronic Acid Synthesis. Clinical cancer research : an official journal of the American Association for Cancer Research 25 26490312
2009 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. Journal of human genetics 25 19834502
2016 CD44 and RHAMM are essential for rapid growth of bladder cancer driven by loss of Glycogen Debranching Enzyme (AGL). BMC cancer 24 27595989
2002 Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL. Human mutation 24 12442284
2018 Advanced oxidation of antihypertensives losartan and valsartan by photo-electro-Fenton at near-neutral pH using natural organic acids and a dimensional stable anode-gas diffusion electrode (DSA-GDE) system under light emission diode (LED) lighting. Environmental science and pollution research international 21 29971747
2016 Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations. Journal of human genetics 20 26984562
2014 Glycolytic potential and activity of adenosine monophosphate kinase (AMPK), glycogen phosphorylase (GP) and glycogen debranching enzyme (GDE) in steer carcasses with normal (<5.8) or high (>5.9) 24h pH determined in M. longissimus dorsi. Meat science 20 25462384
2002 Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III. Journal of human genetics 18 11924557
2021 Integration of aprotic CO2 reduction to oxalate at a Pb catalyst into a GDE flow cell configuration. Faraday discussions 17 34259691
2013 A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III. Journal of human genetics 16 24257475
2019 Assessing the efficiency of a pilot-scale GDE/BDD electrochemical system in removing phenol from high salinity waters. Chemosphere 15 31499309
2015 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 15 25602008
2004 DNA-based subtyping of glycogen storage disease type III: mutation and haplotype analysis of the AGL gene in Chinese. Molecular genetics and metabolism 15 15542399
2012 Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene. JIMD reports 14 23430490
2019 Crystal structure of the catalytic unit of GH 87-type α-1,3-glucanase Agl-KA from Bacillus circulans. Scientific reports 13 31653959
2008 Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3. American journal of medical genetics. Part A 13 18924225
2009 SINE indel polymorphism of AGL gene and association with growth and carcass traits in Landrace x Jeju Black pig F(2) population. Molecular biology reports 12 19649726
2003 Mutational analysis of the AGL gene: five novel mutations in GSD III patients. Human mutation 12 12955720
2024 A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III. The Journal of clinical investigation 11 38015640
2024 MutaT7GDE: A Single Chimera for the Targeted, Balanced, Efficient, and Processive Installation of All Possible Transition Mutations In Vivo. ACS synthetic biology 11 39190860
2018 Glycogen debranching enzyme (AGL) is a novel regulator of non-small cell lung cancer growth. Oncotarget 11 29682180
2000 Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin. American journal of medical genetics 11 10925384
2021 Control of the Rhizobia Nitrogen-Fixing Symbiosis by Common Bean MADS-Domain/AGL Transcription Factors. Frontiers in plant science 10 34163511
2007 A Japanese patient with cardiomyopathy caused by a novel mutation R285X in the AGL gene. Circulation journal : official journal of the Japanese Circulation Society 10 17895567
2022 The yellowhorn AGL transcription factor gene XsAGL22 contributes to ABA biosynthesis and drought tolerance in poplar. Tree physiology 8 34726236
2010 Insertion of multiple alpha-amino gamma-lactam (Agl) residues into a peptide sequence by solid-phase synthesis on synphase lanterns. Biopolymers 8 20225301
2009 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. Clinical chemistry and laboratory medicine 8 19754354
2016 Preparation of Colloidal Gold Particles and Conjugation to Protein A/G/L, IgG, F(ab')2, and Streptavidin. Methods in molecular biology (Clifton, N.J.) 7 27515074
2011 A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect. Clinical genetics 6 22035446
1997 alpha-Galactosylceramide (AGL-517) treatment protects mice from lethal irradiation. Experimental hematology 6 9257806
2025 GDE Stability in CO2 Electroreduction to Formate: The Role of Ionomer Type and Loading. ACS catalysis 5 40641508
2013 Liver cirrhosis treated by living donor liver transplantation in a patient with AGL mutation c.2607-2610delATTC and c.1672dupA. Clinica chimica acta; international journal of clinical chemistry 5 23688858
2007 Characterization of the equine glycogen debranching enzyme gene (AGL): Genomic and cDNA structure, localization, polymorphism and expression. Gene 5 17905541
2019 Elucidating the role of Agl in bladder carcinogenesis by generation and characterization of genetically engineered mice. Carcinogenesis 4 30403777
2016 A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa. Case reports in genetics 3 26885414
2024 Identification of Novel and Recurrent Variants in BTD, GBE1, AGL and ASL Genes in Families with Metabolic Disorders in Saudi Arabia. Journal of clinical medicine 2 38592052
2023 Clinical and Functional Characterization of Novel AGL Variants in Two Families with Glycogen Storage Disease Type III. International journal of endocrinology 2 37287601
2022 The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III. BMC pediatrics 2 35578201
2020 The Novel Compound Heterozygous Mutations in the AGL Gene in a Chinese Family With Adult Late-Onset Glycogen Storage Disease Type IIIa. Frontiers in neurology 2 33329302
2013 [AGL gene analysis of a pedigree with glycogen storage disease type III and identification of a novel mutation]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2 24495762
2025 The Common Bean miR172c microRNA, a Relevant Regulator of the N-Fixing Symbiosis, Is Activated by SPL and AGL/MADS-Domain Transcription Factors. Physiologia plantarum 1 41054315
2024 Design and Application of a Gas Diffusion Electrode (GDE) Cell for Operando and In Situ Studies. Chimia 1 38822779
2023 Novel AGL variants in a patient with glycogen storage disease type IIIb and pulmonary hypertension caused by pulmonary veno-occlusive disease: A case report. Frontiers in genetics 1 37035733
2019 Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients. Genes & genomics 1 31028654
2017 Generation of a GDE heterozygous mutation human embryonic stem cell line WAe001-A-14 by CRISPR/Cas9 editing. Stem cell research 1 29310060
2015 [Analysis of clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 1 26252094
2025 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 0 41389110
2024 Domain structure and function of α-1,3-glucanase Agl-EK14 from the gram-negative bacterium Flavobacterium sp. EK-14. Journal of bioscience and bioengineering 0 38825558
2021 [Analysis of two cases of glycogen storage disease type III due to compound heterozygous variants of AGL gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 34729746
2017 [Identification of a novel mutation of AGL gene in two siblings affected with glycogen storage disease type IIIa]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 28777846

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