Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

Autor: Hudson H. Freeze, Deborah A. Nickerson, Pengfei Liu, Eva Morava, Lynne A. Wolfe, Raymond Y. Wang, Dorcas Wilson, Sergey A. Shiryaev, Yin Y Dong, Janice Cousin, Michael A. Ciliberto, C. G. Asteggiano, Gabriela Magali Papazoglu, Katherine Hammond, Alice Zalan, Timothy Blake Palculict, Kimberly M Houck, Jennefer N. Kohler, Richard Webster, Ingrid E. Scheffer, William D. Graf, John Christodoulou, Bobby G. Ng, Wendy K. Chung, Colleen E. McCormack, Austin Larson, Rossana Sanchez Russo, Fiona Gardiner, Jonathan A. Bernstein, Beth A. Pletcher, Farouq Thabet, Rhonda E. Schnur, Leah J. Rowe, Yue Si, María Mercedes Villanueva, Eileen Barr, Natalie Hauser, Erik A. Eklund, Alvaro H Serrano Russi, Rebecca Miller, Stephanie Grunewald, Andrea Schenone, Allysa Tuite, Suman Ghosh, Jill A. Rosenfeld, Mary-Alice Abbott, Sujana Madathil, Lindsay Rhodes, Shabeed Chelakkadan, Michael J. Bamshad, Naomi Meeks, George E. Hoganson, Kristin G. Monaghan

Publikováno v: J Inherit Metab Dis
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

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 precursor and proper N-linked g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c42986284a8c479aae9968eb318dd9d3
https://doi.org/10.1002/jimd.12290

Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis

Autor: Belén Pérez, Marisa Cubilla, Gabriela Magali Papazoglu, Raquel Dodelson de Kremer, Luisa Sturiale, Marcela Pereyra, C. G. Asteggiano

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
instname
Glycoconjugate journal 38 (2021): 191–200. doi:10.1007/s10719-021-09976-w
info:cnr-pdr/source/autori:Magali Papazoglu, Gabriela; Cubilla, Marisa; Pereyra, Marcela; de Kremer, Raquel Dodelson; Perez, Belen; Sturiale, Luisa; Gabriela Asteggiano, Carla/titolo:Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis/doi:10.1007%2Fs10719-021-09976-w/rivista:Glycoconjugate journal/anno:2021/pagina_da:191/pagina_a:200/intervallo_pagine:191–200/volume:38

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. Up to date, nine ALG2-CDG

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b2a12e4940390ea4dac64c29ac72bb5
http://hdl.handle.net/10261/266445

Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis

Autor: Gabriela Magali, Papazoglu, Marisa, Cubilla, Marcela, Pereyra, Raquel Dodelson, de Kremer, Belén, Pérez, Luisa, Sturiale, Carla Gabriela, Asteggiano

Publikováno v: Glycoconjugate journal. 38(2)

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. Up to date, nine ALG2-CDG

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::db2416e6ec8d879fd789df6fc1e3c6a1
https://pubmed.ncbi.nlm.nih.gov/33644825

Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls

Autor: C. G. Asteggiano, María Fernanda Peralta, Nydia Beatriz Azar, Niels Suldrup Suldrup, María Beatriz Bistué Millón, Raquel Dodelson de Kremer, Norberto Guelbert, Marcela Pereyra, N. Specola, Magali Papazoglu

Publikováno v: Pediatric Research. 84:837-841

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. We studied 554 patients (2007–2017) with a clinical p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83d91eaaf70272aed5de2421c85350ad
https://doi.org/10.1038/s41390-018-0206-6