ArticleThe Journal of clinical investigation2000
Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-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 55 papers, 1 of them a synthesis that pooled it.
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Who cites it
55 citing papers in PubMed, 1 synthesis or guideline pooled it, 176 citations in OpenAlex.
- Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review.Frontiers in neurology · 2021Pooled it
- Real-time monitoring of glycocarrier formation unravels cryptic details in glycosyl transfer.RSC chemical biology · 2026Article
- 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
- Recent Insights into the Roles of PEST-Containing Nuclear Protein.Molecular biotechnology · 2025Review
- Identification of Compound HeterozygousCase reports in pediatrics · 2025Article
- DPM1 modulates desmosomal adhesion and epidermal differentiation through SERPINB5.The Journal of cell biology · 2024Article
- Protein O-mannosylation: one sugar, several pathways, many functions.Glycobiology · 2023Review
- Effects ofMolecules (Basel, Switzerland) · 2023Article
- Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature Review.Frontiers in genetics · 2022Article
- Biology of PEST-Containing Nuclear Protein: A Potential Molecular Target for Cancer Research.Frontiers in oncology · 2022Review
- Complexity of the eukaryotic dolichol-linked oligosaccharide scramblase suggested by activity correlation profiling mass spectrometry.Scientific reports · 2021Article
- Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.Molecular genetics and metabolism · 2021Article
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- Article
- Regulation of Placental Development and Its Impact on Fetal Growth-New Insights From Mouse Models.Frontiers in endocrinology · 2018Review
- Dolichol phosphate mannose synthase: a Glycosyltransferase with Unity in molecular diversities.Glycoconjugate journal · 2017Review
- DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion.JIMD reports · 2017Article
- Biological roles of glycans.Glycobiology · 2017Review
- Structure of the polyisoprenyl-phosphate glycosyltransferase GtrB and insights into the mechanism of catalysis.Nature communications · 2016Article
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9 authors at 4 institutions in 2 countries.
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Abstract
Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin (Tf). Two patients with these symptoms and similar abnormal Tf IEF patterns were analyzed by metabolic labeling of fibroblasts with ¿2-(3)Hmannose. The patients produced a truncated dolichol-linked precursor oligosaccharide with 5 mannose residues, instead of the normal precursor with 9 mannose residues. Addition of 250 microM mannose to the culture medium corrected the size of the truncated oligosaccharide. Microsomes from fibroblasts of these patients were approximately 95% deficient in dolichol-phosphate-mannose (Dol-P-Man) synthase activity, with an apparent K(m) for GDP-Man approximately 6-fold higher than normal. DPM1, the gene coding for the catalytic subunit of Dol-P-Man synthase, was altered in both patients. One patient had a point mutation, C(274)G, causing an R(92)G change in the coding sequence. The other patient also had the C(274)G mutation and a 13-bp deletion that presumably resulted in an unstable transcript. Defects in DPM1 define a new glycosylation disorder, CDG-Ie.
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