ArticleAmerican journal of human genetics2000
A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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Who cites it
51 citing papers in PubMed, 190 citations in OpenAlex.
- Disruption of spike protein N-glycosylation induces its endoplasmic reticulum retention and attenuates SARS-CoV-2 infectivity.Journal of virology · 2026Article
- Congenital disorder of glycosylation type IIb in an infant with developmental and epileptic encephalopathy.BMJ case reports · 2025Article
- Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan.JIMD reports · 2025Article
- Clinical and experimental treatment of primary humoral immunodeficiencies.Clinical and experimental immunology · 2024Review
- Distinguishing Oligosaccharide Isomers Using Far-Infrared Ion Spectroscopy: Identification of Biomarkers for Inborn Errors of Metabolism.Analytical chemistry · 2023Article
- Updated clinical and glycomic features of mannosyl-oligosaccharide glucosidase deficiency: Two case reports.World journal of clinical cases · 2022Article
- Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.Journal of medical genetics · 2022Article
- Human milk 3'-Sialyllactose is positively associated with language development during infancy.The American journal of clinical nutrition · 2021Article
- The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases.Frontiers in genetics · 2021Article
- Structure of human endo-α-1,2-mannosidase (MANEA), an antiviral host-glycosylation target.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Identification and characterization of novel mutations in MOGS in a Chinese patient with infantile spams.Neurogenetics · 2020Article
- Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb.Journal of human genetics · 2019Article
- Modulation of ERQC and ERAD: A Broad-Spectrum Spanner in the Works of Cancer Cells?Journal of oncology · 2019Review
- Abrogation of glucosidase I-mediated glycoprotein deglucosylation results in a sick phenotype in fission yeasts: Model for the human MOGS-CDG disorder.The Journal of biological chemistry · 2018Article
- Characteristic dysmorphic features in congenital disorders of glycosylation type IIb.Journal of human genetics · 2018Review
- Article
- The complexity of glycoprotein-derived glycans.Proceedings of the Japan Academy. Series B, Physical and biological sciences · 2017Review
- Immunological aspects of congenital disorders of glycosylation (CDG): a review.Journal of inherited metabolic disease · 2016Review
- Mass spectrometry of transferrin and apolipoprotein C-III for diagnosis and screening of congenital disorder of glycosylation.Glycoconjugate journal · 2016Review
- The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.Molecular genetics and metabolism · 2016Article
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Authors and funding
13 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glucosidase I is an important enzyme in N-linked glycoprotein processing, removing specifically distal alpha-1,2-linked glucose from the Glc3Man9GlcNAc2 precursor after its en bloc transfer from dolichyl diphosphate to a nascent polypeptide chain in the endoplasmic reticulum. We have identified a glucosidase I defect in a neonate with severe generalized hypotonia and dysmorphic features. The clinical course was progressive and was characterized by the occurrence of hepatomegaly, hypoventilation, feeding problems, seizures, and fatal outcome at age 74 d. The accumulation of the tetrasaccharide Glc(alpha1-2)Glc(alpha1-3)Glc(alpha1-3)Man in the patient's urine indicated a glycosylation disorder. Enzymological studies on liver tissue and cultured skin fibroblasts revealed a severe glucosidase I deficiency. The residual activity was <3% of that of controls. Glucosidase I activities in cultured skin fibroblasts from both parents were found to be 50% of those of controls. Tissues from the patient subjected to SDS-PAGE followed by immunoblotting revealed strongly decreased amounts of glucosidase I protein in the homogenate of the liver, and a less-severe decrease in cultured skin fibroblasts. Molecular studies showed that the patient was a compound heterozygote for two missense mutations in the glucosidase I gene: (1) one allele harbored a G-->C transition at nucleotide (nt) 1587, resulting in the substitution of Arg at position 486 by Thr (R486T), and (2) on the other allele a T-->C transition at nt 2085 resulted in the substitution of Phe at position 652 by Leu (F652L). The mother was heterozygous for the G-->C transition, whereas the father was heterozygous for the T-->C transition. These base changes were not seen in 100 control DNA samples. A causal relationship between the alpha-glucosidase I deficiency and the disease is postulated.
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