ArticleAmerican journal of human genetics1998
The gene for glycogen-storage disease type 1b maps to chromosome 11q23.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 136 citations in OpenAlex.
- Structural basis of glucose-6-phosphate transport by human SLC37A2.Nature structural & molecular biology · 2026Article
- Clinical, laboratory and molecular features of glycogen storage disease type 1a and 1b patients from Turkey: novel mutations and phenotypes.European journal of pediatrics · 2025Article
- SLC37A4, gene responsible for glycogen storage disease type 1b, regulates gingival epithelial barrier function via JAM1 expression.Scientific reports · 2024Article
- Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study.Orphanet journal of rare diseases · 2024Article
- Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review.The Journal of international medical research · 2023Review
- Glycogen storage diseases: An update.World journal of gastroenterology · 2023Review
- Impact of hematopoietic stem cell transplantation in glycogen storage disease type Ib: A single-subject research design usingMolecular genetics and metabolism reports · 2023Article
- Gene therapy and genome editing for type I glycogen storage diseases.Frontiers in molecular medicine · 2023Review
- Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib.BMC medical genomics · 2021Article
- Glucose Transport and Transporters in the Endomembranes.International journal of molecular sciences · 2019Review
- Molecular biology and gene therapy for glycogen storage disease type Ib.Journal of inherited metabolic disease · 2018Review
- Matched unrelated donor transplantation in glycogen storage disease type 1b patient corrects severe neutropenia and recurrent infections.Bone marrow transplantation · 2018Article
- The Physiopathological Role of the Exchangers Belonging to the SLC37 Family.Frontiers in chemistry · 2018Review
- Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes.Journal of inherited metabolic disease · 2015Review
- Inborn errors of metabolism underlying primary immunodeficiencies.Journal of clinical immunology · 2014Review
- The SLC37 family of sugar-phosphate/phosphate exchangers.Current topics in membranes · 2014Review
- Article
- Survival, but not maturation, is affected in neutrophil progenitors from GSD-1b patients.Journal of inherited metabolic disease · 2012Article
- Recombinant AAV-directed gene therapy for type I glycogen storage diseases.Expert opinion on biological therapy · 2011Review
- G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction.Glycobiology · 2011Article
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Authors and funding
12 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glycogen-storage disease type 1 (GSD-1), also known as "von Gierke disease," is caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase) activity. There are four distinct subgroups of this autosomal recessive disorder: 1a, 1b, 1c, and 1d. All share the same clinical manifestations, which are caused by abnormalities in the metabolism of glucose-6-phosphate (G6P). However, only GSD-1b patients suffer infectious complications, which are due to both the heritable neutropenia and the functional deficiencies of neutrophils and monocytes. Whereas G6Pase deficiency in GSD-1a patients arises from mutations in the G6Pase gene, this gene is normal in GSD-1b patients, indicating a separate locus for the disorder in the 1b subgroup. We now report the linkage of the GSD-1b locus to genetic markers spanning a 3-cM region on chromosome 11q23. Eventual molecular characterization of this disease will provide new insights into the genetic bases of G6P metabolism and neutrophil-monocyte dysfunction.
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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.