ReviewNature reviews. Endocrinology2010
Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy.
Review in Nature reviews. Endocrinology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 139 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
139 citing papers in PubMed, 234 citations in OpenAlex.
- Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.Journal of inherited metabolic disease · 2026Trial
- Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa).Journal of inherited metabolic disease · 2025Trial
- Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy.Journal of inherited metabolic disease · 2026Review
- Genotype-phenotype spectrum and clinical outcomes of glycogen storage disease type I: A 15-year experience at Vietnam National Children's Hospital.Molecular genetics and metabolism reports · 2026Article
- Hepatocyte-specific Cas9-mediated editing of G6pc and Slc37a4 elicits comparable biochemical and regulatory responses between glycogen storage disease (GSD) type Ia and Ib mice.Molecular metabolism · 2026Article
- Beyond the linear genome: how reference bias threatens preventive medicine and geroscience.GeroScience · 2026Article
- The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration.medRxiv : the preprint server for health sciences · 2026Article
- Structures of the human glucose-6-phosphate transporter provide insights into its transport cycle and substrate recognition.PLoS biology · 2026Article
- Structural insight into the glucose-6-phosphate transport by G6PT1 and inhibition mechanism of CGA.Science advances · 2026Article
- Development and Preliminary Psychometric Evaluation of the Glycogen Storage Disease Type Ia Functional Assessment Diary (GSD FAD).Patient preference and adherence · 2026Article
- Insights into Neutrophil Dysfunction in Inherited Metabolic Disorders.Journal of innate immunity · 2026Review
- Structural basis of glucose-6-phosphate transport by human SLC37A2.Nature structural & molecular biology · 2026Article
- Structural basis of G6P/Pi transport and inhibition in SLC37A4.Nature structural & molecular biology · 2026Article
- Structures of human glucose-6-phosphate transporter reveal reciprocal antiport mechanism driving glucose-6-phosphate and inorganic phosphate exchange.Nature communications · 2025Article
- Novel murine model provides insights into early-onset of kidney disease in glycogen storage disease type Ib.Molecular genetics and metabolism · 2025Article
- Structural basis for transport and inhibition of the human glucose-6-phosphate transporter G6PT.Nature communications · 2025Article
- Thrombocytopenia in patients with inborn errors of immunity.BMC immunology · 2025Article
- Loss of NUMB promotes hepatomegaly and hepatocellular carcinoma through the AKT/glycogen/hippo signaling.Oncogene · 2025Article
- Liver-Directed Gene Therapy Mitigates Early Nephropathy in Murine Glycogen Storage Disease Type Ia.Journal of inherited metabolic disease · 2025Article
- Structural insights into glucose-6-phosphate recognition and hydrolysis by human G6PC1.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
79 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Glycogen storage disease type I (GSD-I) consists of two subtypes: GSD-Ia, a deficiency in glucose-6-phosphatase-α (G6Pase-α) and GSD-Ib, which is characterized by an absence of a glucose-6-phosphate (G6P) transporter (G6PT). A third disorder, G6Pase-β deficiency, shares similarities with this group of diseases. G6Pase-α and G6Pase-β are G6P hydrolases in the membrane of the endoplasmic reticulum, which depend on G6PT to transport G6P from the cytoplasm into the lumen. A functional complex of G6PT and G6Pase-α maintains interprandial glucose homeostasis, whereas G6PT and G6Pase-β act in conjunction to maintain neutrophil function and homeostasis. Patients with GSD-Ia and those with GSD-Ib exhibit a common metabolic phenotype of disturbed glucose homeostasis that is not evident in patients with G6Pase-β deficiency. Patients with a deficiency in G6PT and those lacking G6Pase-β display a common myeloid phenotype that is not shared by patients with GSD-Ia. Previous studies have shown that neutrophils express the complex of G6PT and G6Pase-β to produce endogenous glucose. Inactivation of either G6PT or G6Pase-β increases neutrophil apoptosis, which underlies, at least in part, neutrophil loss (neutropenia) and dysfunction in GSD-Ib and G6Pase-β deficiency. Dietary and/or granulocyte colony-stimulating factor therapies are available; however, many aspects of the diseases are still poorly understood. This Review will address the etiology of GSD-Ia, GSD-Ib and G6Pase-β deficiency and highlight advances in diagnosis and new treatment approaches, including gene therapy.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.