ArticleAmerican journal of human genetics1996
Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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Who cites it
46 citing papers in PubMed, 156 citations in OpenAlex.
- Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.Journal of inherited metabolic disease · 2000Trial
- Clinical and molecular spectrum of congenital disorders of glycosylation in 80 Egyptian patients.Human genetics · 2026Article
- Complex anionic and zwitterionic N-glycans in Drosophila melanogaster.Biochimica et biophysica acta. General subjects · 2026Article
- Glycan-related genes and genetic disorders.Journal of human genetics · 2026Review
- Computational Pipeline for Accelerating the Design of Glycomimetics.Journal of chemical information and modeling · 2025Article
- Mass Spectrometry as a First-Line Diagnostic Aid for Congenital Disorders of Glycosylation.Mass spectrometry (Tokyo, Japan) · 2025Review
- Genetics of glycosylation in mammalian development and disease.Nature reviews. Genetics · 2024Review
- Lowered GnT-I Activity Decreases Complex-Type N-Glycan Amounts and Results in an Aberrant Primary Motor Neuron Structure in the Spinal Cord.Journal of developmental biology · 2024Article
- Review
- Hippocampal CA3 transcriptional modules associated with granule cell alterations and cognitive impairment in refractory mesial temporal lobe epilepsy patients.Scientific reports · 2021Article
- Article
- Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.American journal of medical genetics. Part A · 2021Article
- 3D Structure and Function of Glycosyltransferases Involved inInternational journal of molecular sciences · 2020Review
- HumanProceedings of the National Academy of Sciences of the United States of America · 2018Article
- The Modulatory Roles of N-glycans in T-Cell-Mediated Autoimmune Diseases.International journal of molecular sciences · 2018Review
- Biological roles of glycans.Glycobiology · 2017Review
- CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.American journal of human genetics · 2016Article
- Physiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function.Biochemical and biophysical research communications · 2014Review
- Article
- "Orphan" retrogenes in the human genome.Molecular biology and evolution · 2013Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Carbohydrate-deficient glycoprotein syndrome (CDGS) type II is a multisystemic congenital disease with severe involvement of the nervous system. Two unrelated CDGS type II patients are shown to have point mutations (one patient having Ser-->Phe and the other having His-->Arg) in the catalytic domain of the gene MGAT2, encoding UDP-GlcNAc:alpha-6-D-mannoside beta-1,2-N- acetylglucosaminyltransferase II (GnT II), an enzyme essential for biosynthesis of complex Asn-linked glycans. Both mutations caused both decreased expression of enzyme protein in a baculovirus/insect cell system and inactivation of enzyme activity. Restriction-endonuclease analysis of DNA from 23 blood relatives of one of these patients showed that 13 donors were heterozygotes; the other relatives and 21 unrelated donors were normal homozygotes. All heterozygotes showed a significant reduction (33%-68%) in mononuclear-cell GnT II activity. The data indicate that CDGS type II is an autosomal recessive disease and that complex Asn-linked glycans are essential for normal neurological development.
Indexed as
Identifiers
8808595PMC1914797W1521766197What OpenQuestion holds
Registered trials
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.