ArticleAmerican journal of human genetics2009
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.
Article in American journal of human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 93 papers, 2 of them syntheses that pooled it.
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93 citing papers in PubMed, 2 syntheses or guidelines pooled it, 197 citations in OpenAlex.
- Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.Journal of inherited metabolic disease · 2017Pooled it
- Chronological patterns of pathogenic variant distributions in muscular dystrophy genes.Neuromuscular disorders : NMD · 2026Article
- Biosynthesis and Regulation of Laminin-Binding O-Mannosyl Glycans Related to Muscular Dystrophy.Advances in experimental medicine and biology · 2026Review
- Defective O-mannosyl glycan synthesis in dystroglycanopathies: pathogenesis and therapeutic frontiers.Journal of human genetics · 2025Review
- Mannose: A Promising Player in Clinical and Biomedical Applications.Current drug delivery · 2024Review
- GDP-Mannose Pyrophosphorylase B (Genes · 2023Review
- Identification and characterization of a new variation inFrontiers in genetics · 2023Article
- A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.Clinical genetics · 2022Article
- Article
- Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants.Molecular genetics and metabolism reports · 2022Article
- A genome-wide CRISPR screen identifies DPM1 as a modifier of DPAGT1 deficiency and ER stress.PLoS genetics · 2022Article
- ProteinMolecules (Basel, Switzerland) · 2021Review
- Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.Molecular genetics and metabolism · 2021Article
- Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes.Orphanet journal of rare diseases · 2020Article
- Towards Central Nervous System Involvement in Adults with Hereditary Myopathies.Journal of neuromuscular diseases · 2020Review
- A new patient-derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α-dystroglycan.EMBO reports · 2019Article
- A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy.JIMD reports · 2019Article
- Mammalian O-mannosyl glycans: Biochemistry and glycopathology.Proceedings of the Japan Academy. Series B, Physical and biological sciences · 2019Article
- The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy.Disease models & mechanisms · 2018Review
33 more citing papers are in PubMed but not listed here.
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Authors and funding
23 authors at 10 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alpha-dystroglycanopathies such as Walker Warburg syndrome represent an important subgroup of the muscular dystrophies that have been related to defective O-mannosylation of alpha-dystroglycan. In many patients, the underlying genetic etiology remains unsolved. Isolated muscular dystrophy has not been described in the congenital disorders of glycosylation (CDG) caused by N-linked protein glycosylation defects. Here, we present a genetic N-glycosylation disorder with muscular dystrophy in the group of CDG type I. Extensive biochemical investigations revealed a strongly reduced dolichol-phosphate-mannose (Dol-P-Man) synthase activity. Sequencing of the three DPM subunits and complementation of DPM3-deficient CHO2.38 cells showed a pathogenic p.L85S missense mutation in the strongly conserved coiled-coil domain of DPM3 that tethers catalytic DPM1 to the ER membrane. Cotransfection experiments in CHO cells showed a reduced binding capacity of DPM3(L85S) for DPM1. Investigation of the four Dol-P-Man-dependent glycosylation pathways in the ER revealed strongly reduced O-mannosylation of alpha-dystroglycan in a muscle biopsy, thereby explaining the clinical phenotype of muscular dystrophy. This mild Dol-P-Man biosynthesis defect due to DPM3 mutations is a cause for alpha-dystroglycanopathy, thereby bridging the congenital disorders of glycosylation with the dystroglycanopathies.
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