ArticleThe Journal of clinical investigation1998
A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.
Article in The Journal of clinical investigation, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 98 citations in OpenAlex.
- Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.Journal of inherited metabolic disease · 2000Trial
- Endocrine Implications of Congenital Disorders of GlycosylationJournal of clinical research in pediatric endocrinology · 2026Review
- CDG Therapies: From Bench to Bedside.International journal of molecular sciences · 2018Review
- Mass spectrometry of transferrin and apolipoprotein C-III for diagnosis and screening of congenital disorder of glycosylation.Glycoconjugate journal · 2016Review
- Article
- Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.Glycoconjugate journal · 2013Review
- Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 Gene.Genetic testing and molecular biomarkers · 2012Article
- Insights into complexity of congenital disorders of glycosylation.Biochemia medica · 2012Review
- Employment of single-strand conformation polymorphism analysis in screening for α-1,3 glucosyltransferase gene mutation A333V in Croatian population.Journal of clinical laboratory analysis · 2011Article
- Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps.Journal of inherited metabolic disease · 2008Article
- Improvement of CDG diagnosis by combined examination of several glycoproteins.Journal of inherited metabolic disease · 2004Article
- Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.European journal of pediatrics · 2003Review
- New disorders in carbohydrate metabolism: congenital disorders of glycosylation and their impact on the endocrine system.Reviews in endocrine & metabolic disorders · 2003Review
- Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!Journal of inherited metabolic disease · 2003Article
- MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.The Journal of clinical investigation · 2001Article
- Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications.Journal of inherited metabolic disease · 2001Article
- Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation.The American journal of pathology · 2000Article
- Carbohydrate-deficient glycoprotein syndromes: the Italian experience.Journal of inherited metabolic disease · 2000Article
- Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)The Journal of clinical investigation · 2000Article
- Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.The Journal of clinical investigation · 2000Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Carbohydrate-deficient glycoprotein syndromes (CDGS) type I are a group of genetic diseases characterized by a deficiency of N-linked protein glycosylation in the endoplasmic reticulum. The majority of these CDGS patients have phosphomannomutase (PMM) deficiency (type A). This enzyme is required for the synthesis of GDP-mannose, one of the substrates in the biosynthesis of the dolichol-linked oligosaccharide Glc3Man9GlcNAc2. This oligosaccharide serves as the donor substrate in the N-linked glycosylation process. We report on the biochemical characterization of a novel CDGS type I in fibroblasts of four related patients with normal PMM activity but a strongly reduced ability to synthesize glucosylated dolichol-linked oligosaccharide leading to accumulation of dolichol-linked Man9GlcNAc2. This deficiency in the synthesis of dolichol-linked Glc3Man9GlcNAc2 oligosaccharide explains the hypoglycosylation of serum proteins in these patients, because nonglucosylated oligosaccharides are suboptimal substrates in the protein glycosylation process, catalyzed by the oligosaccharyltransferase complex. Accordingly, the efficiency of N-linked protein glycosylation was found to be reduced in fibroblasts from these patients.
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