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TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation
American journal of human genetics, 04-02-2016, 98 (2), 322-330Article dans une revue scientifique -
Yeast Gdt1 is a Golgi-localized calcium transporter required for stress-induced calcium signaling and protein glycosylation
Scientific Reports, 14-04-2016, 6, 24282Article dans une revue scientifique -
TMEM165 deficiencies in Congenital Disorders of Glycosylation type II (CDG-II): Clues and evidences for roles of the protein in Golgi functions and ion homeostasis
Tissue & Cell, 04-2017, 49 (2 Pt A), 150-156Article dans une revue scientifique -
ALG11-CDG: Three novel mutations and further characterization of the phenotype
Molecular Genetics and Metabolism Reports, 03-2015, 2, 16-19Article dans une revue scientifique -
Golgi post-translational modifications and associated diseases
Journal of inherited metabolic disease, 07-2015, 38 (4), 741-751Article dans une revue scientifique -
Radiation-induced changes in the glycome of endothelial cells with functional consequences
Scientific Reports, 12-2017, 7 (1)Article dans une revue scientifique -
Participation of 3-O-sulfated heparan sulfates in the protection of macrophages by herpes simplex virus-1 glycoprotein D and cyclophilin B against apoptosis
FEBS Open Bio, 02-2017, 7 (2), 133-148Article dans une revue scientifique -
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
American journal of human genetics, 04-02-2016, 98 (2), 310-321Article dans une revue scientifique -
A sequential bioorthogonal dual strategy: ManNAl and SiaNAl as distinct tools to unravel sialic acid metabolic pathways
Chemical Communications (Cambridge, England), 28-01-2016, 52 (11), 2318-2321Article dans une revue scientifique -
Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells
Proceedings of the National Academy of Sciences of the United States of America, 23-04-2013, 110 (17), 6859-6864Article dans une revue scientifique