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Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis
(Springer, 2021-04)
Human ALG2 encodes an α 1,3mannosyltransferase that catalyzes the first steps in the synthesis of N-glycans in the endoplasmic reticulum. Variants in ALG2cause a congenital disorder of glycosylation (CDG) known as ALG2-CDG. ...
Ten years of screening for congenital disorders of glycosylation in Argentina: Case studies and pitfalls
(International Pediatric Research Foundation, 2018-12)
Background: Congenital Disorders of Glycosylation (CDG) are genetic diseases caused by hypoglycosylation of glycoproteins and glycolipids. Most CDG are multisystem disorders with mild to severe involvement. Methods: We ...
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions
(Springer, 2020-11)
Asparagine-linked glycosylation 13 homolog (ALG13) encodes a nonredundant, highly conserved, X-linked uridine diphosphate (UDP)-N-acetylglucosaminyltransferase required for the synthesis of lipid linked oligosaccharide ...
A novel fission yeast platform to model N -glycosylation and the bases of congenital disorders of glycosylation Type I
(Company of Biologists, 2022-03)
Congenital disorders of glycosylation type I (CDG-I) are inherited human diseases caused by deficiencies in lipid-linked oligosaccharide (LLO) synthesis or the glycan transfer to proteins during N-glycosylation. We constructed ...
Abrogation of glucosidase I–mediated glycoprotein deglucosylation results in a sick phenotype in fission yeasts: Model for the human MOGS-CDG disorder
(American Society for Biochemistry and Molecular Biology, 2018-12)
Glucosidase I (GI) removes the outermost glucose from protein-linked Glc3Man9GlcNAc2 (G3M9) in the endoplasmic reticulum (ER). Individuals with congenital disorders of glycosylation MOGS-CDG bear mutations in the GI-encoding ...
Desarrollo de herramientas moleculares para determinar hipoglicosilación de proteínas in vivo en levaduras
(Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica, 2014)
Bilingualism in the hotel sector of Bogota
(Universidad ECCIColombiaFacultad de Ciencias Jurídicas, Sociales y Humanas, 2021)
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(2023)