Associated Papers
Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature Review.
Lausmann H et al.
Frontiers in Genetics, 2022
Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.
Radenkovic S et al.
Molecular Genetics and Metabolism, 2021
Structural and mechanistic themes in glycoconjugate biosynthesis at membrane interfaces.
Allen KN et al.
Current Opinion in Structural Biology, 2019
Structural basis for dolichylphosphate mannose biosynthesis.
Gandini R et al.
Nature Communications, 2017
DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion.
Bursle C et al.
Jimd Reports, 2017
Structure of the polyisoprenyl-phosphate glycosyltransferase GtrB and insights into the mechanism of catalysis.
Ardiccioni C et al.
Nature Communications, 2016
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.
Yang AC et al.
Molecular Genetics and Metabolism, 2013
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