Associated Papers
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
Abu Bakar N et al.
Journal of Inherited Metabolic Disease, 2022
Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.
Radenkovic S et al.
Molecular Genetics and Metabolism, 2021
Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement.
Fu J et al.
Clinical Genetics, 2019
Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG.
van Tol W et al.
Journal of Inherited Metabolic Disease, 2019
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.
Johnson K et al.
Skeletal Muscle, 2018
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.
Yang AC et al.
Molecular Genetics and Metabolism, 2013
Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation.
Wolfe LA et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
Haeuptle MA et al.
Human Mutation, 2009
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.
Lefeber DJ et al.
American Journal of Human Genetics, 2009
DPM1, the catalytic subunit of dolichol-phosphate mannose synthase, is tethered to and stabilized on the endoplasmic reticulum membrane by DPM3.
Ashida H et al.
The Journal of Biological Chemistry, 2006
Genetic disorders of dolichol synthesis and utilization.
Pieters E et al.
Molecular Genetics and Metabolism, 0
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