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Oral D-galactose supplementation in PGM1-CDG
Genetics in Medicine. Official Journal of the American College of Medical Genetics, 11-2017, 19 (11), 1226-1235Article dans une revue scientifique -
Assessing ER and Golgi N-glycosylation process using metabolic labeling in mammalian cultured cells
Methods for analysis of Golgi complex function, Elsevier, 2013, 118, 157-176Partie d'ouvrage -
Insulin signaling controls the expression of O-GlcNAc transferase and its interaction with lipid microdomains
The FASEB Journal, 09-2013, 27 (9), 3478-3486Article dans une revue scientifique -
Alkynyl monosaccharide analogues as a tool for evaluating Golgi glycosylation efficiency: application to Congenital Disorders of Glycosylation (CDG)
Chemical Communications (Cambridge, England), 14-12-2013, 49 (96), 11293-11295Article dans une revue scientifique -
Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies
Journal of Inherited Metabolic Disease, Wiley, 07-08-2020, 43 (6), 1349-1359Article dans une revue scientifique -
Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis
Human Molecular Genetics, 15-04-2016, 25 (8), 1489-1500Article dans une revue scientifique -
Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG
Glycobiology, 06-2015, 25 (6), 669-682Article dans une revue scientifique -
Evidence for splice transcript variants of TMEM165, a gene involved in CDG
Biochimica et biophysica acta, 04-2017, 1861 (4), 737-748Article dans une revue scientifique -
Heparan sulfate 3- O -sulfotransferase 2 (HS3ST2) displays an unexpected subcellular localization in the plasma membrane
Biochimica et Biophysica Acta (BBA) - General Subjects, 07-2018, 1862 (7), 1644-1655Article dans une revue scientifique -
Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation
European journal of human genetics, 05-2018, 26 (5), 618-621Article dans une revue scientifique