ArticleThe Journal of clinical investigation2001
A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If).
Article in The Journal of clinical investigation, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
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Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it, 130 citations in OpenAlex.
- Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review.Frontiers in neurology · 2021Pooled it
- Oral D-galactose supplementation in PGM1-CDG.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Trial
- The SLC-ome of membrane transport: from molecular discovery to physiology and clinical applications.Physiological reviews · 2026Review
- Detecting Deleterious Recessive Variants in Large Yellow Croaker Using Data from 7337 Individuals.Marine biotechnology (New York, N.Y.) · 2025Article
- Article
- A genome-wide CRISPR screen identifies DPM1 as a modifier of DPAGT1 deficiency and ER stress.PLoS genetics · 2022Article
- ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.Journal of inherited metabolic disease · 2022Article
- Partitioning gene-level contributions to complex-trait heritability by allele frequency identifies disease-relevant genes.American journal of human genetics · 2022Article
- Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.Journal of inherited metabolic disease · 2021Article
- Genetics of Inherited Ichthyoses and Related Diseases.Acta dermato-venereologica · 2020Review
- A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy.JIMD reports · 2019Article
- Transcriptome profiles of hypothalamus and adrenal gland linked to haplotype related to coping behavior in pigs.Scientific reports · 2019Article
- MPDU1 regulates CEACAM1 and cell adhesion in vitro and in vivo.Glycoconjugate journal · 2018Article
- Both PIGA and PIGL mutations cause GPI-a deficient isolates in the Tk6 cell line.Environmental and molecular mutagenesis · 2015Article
- 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 disorders of glycosylation: other causes of ichthyosis.European journal of human genetics : EJHG · 2014Article
- Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.Glycoconjugate journal · 2013Review
- Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
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13 authors at 1 institution in 1 country.
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Abstract
We describe a new congenital disorder of glycosylation, CDG-If. The patient has severe psychomotor retardation, seizures, failure to thrive, dry skin and scaling with erythroderma, and impaired vision. CDG-If is caused by a defect in the gene MPDU1, the human homologue of hamster Lec35, and is the first disorder to affect the use, rather than the biosynthesis, of donor substrates for lipid-linked oligosaccharides. This leads to the synthesis of incomplete and poorly transferred precursor oligosaccharides lacking both mannose and glucose residues. The patient has a homozygous point mutation (221T-->C, L74S) in a semiconserved amino acid of MPDU1. Chinese hamster ovary Lec35 cells lack a functional Lec35 gene and synthesize truncated lipid-linked oligosaccharides similar to the patient's. They lack glucose and mannose residues donated by Glc-P-Dol and Man-P-Dol. Transfection with the normal human MPDU1 allele nearly completely restores normal glycosylation, whereas transfection with the patient's MPDU1 allele only weakly restores normal glycosylation. This work provides a new clinical picture for another CDG that may involve synthesis of multiple types of glycoconjugates.
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