ArticleGlycobiology2011
G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction.
Article in Glycobiology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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Who cites it
54 citing papers in PubMed, 90 citations in OpenAlex.
- Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.The Journal of allergy and clinical immunology · 2014Trial
- Glycogen and Glycosylation: Friends or Foes?Biomolecules · 2026Review
- Proteomics profiling of serum and liver in GSD Ia and Ib patients: insights into complication mechanisms and circulation biomarkers.Journal of translational medicine · 2026Article
- Feeding-regulated glycogen metabolism drives rhythmic liver protein secretion.Nature metabolism · 2026Article
- Insights into Neutrophil Dysfunction in Inherited Metabolic Disorders.Journal of innate immunity · 2026Review
- Glucose-6-phosphatase catalytic subunit 3 enhances host resistance to porcine epidemic diarrhea virus through regulating glycolysis/gluconeogenesis.The veterinary quarterly · 2025Article
- Pathophysiology of the Neutropenia of GSDIb and G6PC3 Deficiency: Origin, Metabolism and Elimination of 1,5-Anhydroglucitol.Journal of inherited metabolic disease · 2025Review
- Heat-induced stress modulates cell surface glycans and membrane lipids of coral symbionts.The ISME journal · 2025Article
- Not just sugar: metabolic control of neutrophil development and effector functions.Journal of leukocyte biology · 2024Review
- Article
- Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.Frontiers in immunology · 2024Review
- Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors.Diagnostics (Basel, Switzerland) · 2023Review
- The paradox of autoimmunity and autoinflammation in inherited neutrophil disorders - in search of common patterns.Frontiers in immunology · 2023Review
- Successful use of empagliflozin to treat neutropenia in two G6PC3-deficient children: Impact of a mutation in SGLT5.Journal of inherited metabolic disease · 2022Article
- Physiological and Pathophysiological Roles of Metabolic Pathways for NET Formation and Other Neutrophil Functions.Frontiers in immunology · 2022Review
- Brain glycogen serves as a critical glucosamine cache required for protein glycosylation.Cell metabolism · 2021Article
- The glyco-redox interplay: Principles and consequences on the role of reactive oxygen species during protein glycosylation.Redox biology · 2021Review
- Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease.iScience · 2021Article
- A Novel Six-mRNA Signature Predicts Survival of Patients With Glioblastoma Multiforme.Frontiers in genetics · 2021Article
- Altered Functions of Neutrophils in Two Chinese Patients With Severe Congenital Neutropenia Type 4 Caused byFrontiers in immunology · 2021Article
Corrections and comments
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Authors and funding
21 authors at 8 institutions in 5 countries.
Funding
Abstract
Glucose-6-phosphatase, an enzyme localized in the endoplasmic reticulum (ER), catalyzes the hydrolysis of glucose-6-phosphate (G6P) to glucose and inorganic phosphate. In humans, there are three differentially expressed glucose-6-phosphatase catabolic genes (G6PC1-3). Recently, it has been shown that mutations in the G6PC3 gene result in a syndrome associating congenital neutropenia and various organ malformations. The enzymatic function of G6PC3 is dependent on G6P transport into the ER, mediated by G6P translocase (G6PT). Mutations in the gene encoding G6PT result in glycogen storage disease type-1b (GSD-1b). Interestingly, GSD-1b patients exhibit a similar neutrophil dysfunction to that observed in G6PC3-deficient patients. To better understand the causes of neutrophil dysfunction in both diseases, we have studied the neutrophil nicotinamide adenine dinucleotide phosphate (NADPH) oxidase of patients with G6PC3 and G6PT syndromes. Unexpectedly, sodium dodecyl sulfate-polyacrylamide gel electrophoresis experiments indicated hypo-glycosylation of gp91(phox), the electron-transporting component of the NADPH oxidase, in all of these patients. Rigorous mass spectrometric glycomic profiling showed that most of the complex-type antennae which characterize the neutrophil N-glycome of healthy individuals were severely truncated in the patients' neutrophils. A comparable truncation of the core 2 antenna of the O-glycans was also observed. This aberrant neutrophil glycosylation is predicted to have profound effects on the neutrophil function and merit designation of both syndromes as a new class of congenital disorders of glycosylation.
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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.