ArticleInternational journal of molecular sciences2019
β-Glucose-1,6-Bisphosphate Stabilizes Pathological Phophomannomutase2 Mutants In Vitro and Represents a Lead Compound to Develop Pharmacological Chaperones for the Most Common Disorder of Glycosylation, PMM2-CDG.
Article in International journal of molecular sciences, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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The trial behind it
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
21 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG).International journal of molecular sciences · 2022Pooled it
- Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study.Orphanet journal of rare diseases · 2021Trial
- Lipo-Glc-1,6-PIUBMB life · 2026Article
- Article
- AAV-based gene replacement therapy prevents and halts manifestation of abnormal neurological phenotypes in a novel mouse model of PMM2-CDG.Gene therapy · 2025Article
- A comprehensive update of genotype-phenotype correlations in PMM2-CDG: insights from molecular and structural analyses.Orphanet journal of rare diseases · 2025Review
- AAV9-basedMolecular genetics and metabolism reports · 2024Article
- Congenital disorders of glycosylation: narration of a story through its patents.Orphanet journal of rare diseases · 2023Review
- Tracer metabolomics reveals the role of aldose reductase in glycosylation.Cell reports. Medicine · 2023Article
- [Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Review
- Chemical Therapies for Congenital Disorders of Glycosylation.ACS chemical biology · 2022Review
- Article
- Nutrition interventions in congenital disorders of glycosylation.Trends in molecular medicine · 2022Review
- Mechanistic Insight into the Mode of Action of Acid β-Glucosidase Enhancer Ambroxol.International journal of molecular sciences · 2022Article
- Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.Annals of neurology · 2021Article
- Genotype-Phenotype Correlations in PMM2-CDG.Genes · 2021Article
- Fructose and Mannose in Inborn Errors of Metabolism and Cancer.Metabolites · 2021Review
- Treatment Options in Congenital Disorders of Glycosylation.Frontiers in genetics · 2021Review
- Second-Generation Pharmacological Chaperones: Beyond Inhibitors.Molecules (Basel, Switzerland) · 2020Review
- Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations.International journal of molecular sciences · 2020Review
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
A large number of mutations causing PMM2-CDG, which is the most frequent disorder of glycosylation, destabilize phosphomannomutase2. We looked for a pharmacological chaperone to cure PMM2-CDG, starting from the structure of a natural ligand of phosphomannomutase2, α-glucose-1,6-bisphosphate. The compound, β-glucose-1,6-bisphosphate, was synthesized and characterized via
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Registered trials
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