ArticleMolecular genetics and metabolism2015
Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency.
Article in Molecular genetics and metabolism, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 13 citations in OpenAlex.
- Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency.Journal of clinical immunology · 2024Article
- Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.Research square · 2024Article
- Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.medRxiv : the preprint server for health sciences · 2024Article
- The metabolic basis of inherited neutropenias.British journal of haematology · 2024Review
- Drug Discovery in Canine Pyometra Disease Identified by Text Mining and Microarray Data Analysis.BioMed research international · 2023Article
- SLGT2 Inhibitor Rescues Myelopoiesis in G6PC3 Deficiency.Journal of clinical immunology · 2022Article
- Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease.iScience · 2021Article
- Hypothesis: A Novel Neuroprotective Role for Glucose-6-phosphatase (G6PC3) in Brain-To Maintain Energy-Dependent Functions Including Cognitive Processes.Neurochemical research · 2020Review
- Glucose-6-Phosphatase Catalytic Subunit 3 (Frontiers in immunology · 2017Article
- Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Glucose-6-phosphatase-β (G6Pase-β or G6PC3) deficiency is characterized by neutropenia and dysfunction in both neutrophils and macrophages. G6Pase-β is an enzyme embedded in the endoplasmic reticulum membrane that catalyzes the hydrolysis of glucose-6-phosphate (G6P) to glucose and phosphate. To date, 33 separate G6PC3 mutations have been identified in G6Pase-β-deficient patients but only the p.R253H and p.G260R missense mutations have been characterized functionally for pathogenicity. Here we functionally characterize 16 of the 19 known missense mutations using a sensitive assay, based on a recombinant adenoviral vector-mediated expression system, to demonstrate pathogenicity. Fourteen missense mutations completely abolish G6Pase-β enzymatic activity while the p.S139I and p.R189Q mutations retain 49% and 45%, respectively of wild type G6Pase-β activity. A database of residual enzymatic activity retained by the G6Pase-β mutations will serve as a reference for evaluating genotype-phenotype relationships.
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