ArticleThe Journal of clinical endocrinology and metabolism2020
Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage.
Article in The Journal of clinical endocrinology and metabolism, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Dysregulation of glycogen metabolism in cardiomyopathy caused by glycogenin-1 (GYG1) missense variants.The Journal of clinical endocrinology and metabolism · 2026Article
- Article
- Human glycogenins maintain glucose homeostasis by regulating glycogen metabolism.Nature communications · 2025Article
- Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs).Biomolecules · 2024Review
- New mutations identified in a case of Glycogenin-1 deficiency.Molecular genetics and metabolism reports · 2024Article
- Deciphering the molecular classification of pediatric sepsis: integrating WGCNA and machine learning-based classification with immune signatures for the development of an advanced diagnostic model.Frontiers in genetics · 2024Article
- Integrative Analysis of Machine Learning and Molecule Docking Simulations for Ischemic Stroke Diagnosis and Therapy.Molecules (Basel, Switzerland) · 2023Article
- Glycogen storage diseases.Nature reviews. Disease primers · 2023Review
- Identification of new biomarkers and immune infiltration characteristics of sepsis in very low birth weight infants.Biomolecules & biomedicine · 2023Article
- Bioinformatic Analysis and Machine Learning Methods in Neonatal Sepsis: Identification of Biomarkers and Immune Infiltration.Biomedicines · 2023Article
- Pathomorphogenesis of Glycogen-Ground Glass Hepatocytic Inclusions (Polyglucosan Bodies) in Children after Liver Transplantation.International journal of molecular sciences · 2022Article
- A century of exercise physiology: key concepts in regulation of glycogen metabolism in skeletal muscle.European journal of applied physiology · 2022Review
- 251st ENMC international workshop: Polyglucosan storage myopathies 13-15 December 2019, Hoofddorp, the Netherlands.Neuromuscular disorders : NMD · 2021Article
- From Prokaryotes to Eukaryotes: Insights Into the Molecular Structure of Glycogen Particles.Frontiers in molecular biosciences · 2021Review
- Update Review about Metabolic Myopathies.Life (Basel, Switzerland) · 2020Review
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Authors and funding
11 authors at 7 institutions in 6 countries.
Funding
Abstract
contextGlycogenin is considered to be an essential primer for glycogen biosynthesis. Nevertheless, patients with glycogenin-1 deficiency due to biallelic GYG1 (NM_004130.3) mutations can store glycogen in muscle. Glycogenin-2 has been suggested as an alternative primer for glycogen synthesis in patients with glycogenin-1 deficiency.
objectiveThe objective of this article is to investigate the importance of glycogenin-1 and glycogenin-2 for glycogen synthesis in skeletal and cardiac muscle. DESIGN, SETTING, AND PATIENTS: Glycogenin-1 and glycogenin-2 expression was analyzed by Western blot, mass spectrometry, and immunohistochemistry in liver, heart, and skeletal muscle from controls and in skeletal and cardiac muscle from patients with glycogenin-1 deficiency.
resultsGlycogenin-1 and glycogenin-2 both were found to be expressed in the liver, but only glycogenin-1 was identified in heart and skeletal muscle from controls. In patients with truncating GYG1 mutations, neither glycogenin-1 nor glycogenin-2 was expressed in skeletal muscle. However, nonfunctional glycogenin-1 but not glycogenin-2 was identified in cardiac muscle from patients with cardiomyopathy due to GYG1 missense mutations. By immunohistochemistry, the mutated glycogenin-1 colocalized with the storage of glycogen and polyglucosan in cardiomyocytes.
conclusionsGlycogen can be synthesized in the absence of glycogenin, and glycogenin-1 deficiency is not compensated for by upregulation of functional glycogenin-2. Absence of glycogenin-1 leads to the focal accumulation of glycogen and polyglucosan in skeletal muscle fibers. Expression of mutated glycogenin-1 in the heart is deleterious, and it leads to storage of abnormal glycogen and cardiomyopathy.
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Registered trials
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