ArticleThe Journal of clinical investigation2000
Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.
Article in The Journal of clinical investigation, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 2 of them syntheses that pooled it.
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Who cites it
52 citing papers in PubMed, 2 syntheses or guidelines pooled it, 177 citations in OpenAlex.
- Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review.Frontiers in neurology · 2021Pooled it
- Diagnostic approach to the congenital muscular dystrophies.Neuromuscular disorders : NMD · 2014Guideline
- C2orf74 orchestrates germ-Leydig crosstalk to inhibit white adipose tissue browning in male mice.Nature communications · 2026Article
- Mechanistic snapshots of lipid-linked sugar transfer.Nature communications · 2025Article
- Identification of Compound HeterozygousCase reports in pediatrics · 2025Article
- Protein O-mannosylation: one sugar, several pathways, many functions.Glycobiology · 2023Review
- Article
- A genome-wide CRISPR screen identifies DPM1 as a modifier of DPAGT1 deficiency and ER stress.PLoS genetics · 2022Article
- Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature Review.Frontiers in genetics · 2022Article
- Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up.Orphanet journal of rare diseases · 2021Article
- Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.Molecular genetics and metabolism · 2021Article
- A Genome-Wide CRISPR-Cas9 Screen Identifies the Dolichol-Phosphate Mannose Synthase Complex as a Host Dependency Factor for Dengue Virus Infection.Journal of virology · 2020Article
- Article
- Biological roles of glycans.Glycobiology · 2017Review
- DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion.JIMD reports · 2017Article
- Structure of the polyisoprenyl-phosphate glycosyltransferase GtrB and insights into the mechanism of catalysis.Nature communications · 2016Article
- Genetic defects in dolichol metabolism.Journal of inherited metabolic disease · 2015Review
- Mannose metabolism: more than meets the eye.Biochemical and biophysical research communications · 2014Review
- Physiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function.Biochemical and biophysical research communications · 2014Review
- Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.Molecular genetics and metabolism · 2013Article
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Authors and funding
13 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital disorders of glycosylation (CDG), formerly known as carbohydrate-deficient glycoprotein syndromes, lead to diseases with variable clinical pictures. We report the delineation of a novel type of CDG identified in 2 children presenting with severe developmental delay, seizures, and dysmorphic features. We detected hypoglycosylation on serum transferrin and cerebrospinal fluid beta-trace protein. Lipid-linked oligosaccharides in the endoplasmic reticulum of patient fibroblasts showed an accumulation of the dolichyl pyrophosphate Man(5)GlcNAc(2) structure, compatible with the reduced dolichol-phosphate-mannose synthase (DolP-Man synthase) activity detected in these patients. Accordingly, 2 mutant alleles of the DolP-Man synthase DPM1 gene, 1 with a 274C>G transversion, the other with a 628delC deletion, were detected in both siblings. Complementation analysis using DPM1-null murine Thy1-deficient cells confirmed the detrimental effect of both mutations on the enzymatic activity. Furthermore, mannose supplementation failed to improve the glycosylation status of DPM1-deficient fibroblast cells, thus precluding a possible therapeutic application of mannose in the patients. Because DPM1 deficiency, like other subtypes of CDG-I, impairs the assembly of N-glycans, this novel glycosylation defect was named CDG-Ie.
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