Brefeldin A promotes the appearance of oligosaccharyl phosphates derived from Glc3Man9GlcNAc2-PP-dolichol within the endomembrane system of HepG2 cells

Autor: Ahmad Massarweh, Michaël Bosco, Soria Iatmanen-Harbi, Clarice Tessier, Laura Amana, Patricia Busca, Isabelle Chantret, Christine Gravier-Pelletier, Stuart E.H. Moore

Publikováno v: Journal of Lipid Research, Vol 57, Iss 8, Pp 1477-1491 (2016)

We reported an oligosaccharide diphosphodolichol (DLO) diphosphatase (DLODP) that generates dolichyl-phosphate and oligosaccharyl phosphates (OSPs) from DLO in vitro. This enzyme could underlie cytoplasmic OSP generation and promote dolichyl-phosphat

Externí odkaz: https://doaj.org/article/9a77360137a44117ae0fe955a561a1d6

Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient

Autor: Thierry Dupré, Julia Dancourt, Alain Couvineau, Elise Schaefer, Manuel Schiff, Nathalie Seta, Francesca Mattioli, Isabelle Chantret, Hélène Ogier de Baulny, Audrey Dupont, Pascale de Lonlay, Sandrine Vuillaumier-Barrot, Stuart E.H. Moore

Publikováno v: Pediatric Research
Pediatric Research, 2019, 85 (3), pp.384-389. ⟨10.1038/s41390-018-0231-5⟩

BACKGROUND: Congenital disorders of glycosylation (CDG) includes ALG8 deficiency, a protein N-glycosylation defect with a broad clinical spectrum. If most of the 15 previously reported patients present an early-onset multisystem severe disease and ea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35fac60bce12733b38d79ef4ee8683e0
https://doi.org/10.1038/s41390-018-0231-5

Brefeldin A promotes the appearance of oligosaccharyl phosphates derived from Glc3Man9GlcNAc2-PP-dolichol within the endomembrane system of HepG2 cells

Autor: Clarice Tessier, Soria Iatmanen-Harbi, Patricia Busca, Stuart E.H. Moore, Laura Amana, Micha eumll Bosco, Christine Gravier-Pelletier, Ahmad Massarweh, Isabelle Chantret

Publikováno v: Journal of Lipid Research, Vol 57, Iss 8, Pp 1477-1491 (2016)

We reported an oligosaccharide diphosphodolichol (DLO) diphosphatase (DLODP) that generates dolichyl-phosphate and oligosaccharyl phosphates (OSPs) from DLO in vitro. This enzyme could underlie cytoplasmic OSP generation and promote dolichyl-phosphat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dd920c376542f65d201e9dccd04c90f
http://www.sciencedirect.com/science/article/pii/S0022227520352196

Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus

Autor: Lars Beedgen, Bianca Dimitrov, Gesche Düker, Matthias Zielonka, Michael J. Lentze, Catherine Barrey, Kai‐Christian Thiemann, Nathalie Seta, Rainer Ganschow, Stuart E.H. Moore, Verena Peters, Anna‐Marlen Hutter, Jonas Denecke, Irmgard Sinning, Georg F. Hoffmann, Christian Thiel, Sandrine Vuillaumier-Barrot, Thierry Dupré, Maximilian Breuer, Nastassja Himmelreich, Wolfgang Kölfen, Virginia Geiger, Andreas Hüllen, Andreas Ziegler

Publikováno v: Human mutation. 40(7)

ALG3-CDG is one of the very rare types of congenital disorder of glycosylation (CDG) caused by variants in the ER-mannosyltransferase ALG3. Here, we summarize the clinical, biochemical, and genetic data of four new ALG3-CDG patients, who were identif

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6814b5a8e4837094414d54d2307a0f90
https://pubmed.ncbi.nlm.nih.gov/31067009

Synthesis and biological evaluation of chemical tools for the study of Dolichol Linked Oligosaccharide Diphosphatase (DLODP)

Autor: Isabelle Chantret, Michaël Bosco, Ahmed Bouhss, Soria Iatmanen-Harbi, Ahmad Massarweh, Stuart E.H. Moore, Patricia Busca, Christine Gravier-Pelletier

Publikováno v: European Journal of Medicinal Chemistry
European Journal of Medicinal Chemistry, Elsevier, 2017, 125, pp.952-964. ⟨10.1016/j.ejmech.2016.10.013⟩
European Journal of Medicinal Chemistry, 2017, 125, pp.952-964. ⟨10.1016/j.ejmech.2016.10.013⟩
European Journal of Medicinal Chemistry, Elsevier, 2017, 125, pp.952-964. 〈10.1016/j.ejmech.2016.10.013〉

International audience; Citronellyl- and solanesyl-based dolichol linked oligosaccharide (DLO) analogs were synthesized and tested along with undecaprenyl compounds for their ability to inhibit the release of [(3)H]OSP from [(3)H]DLO by mammalian liv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::996e7812355f2e594d2162ba65b8c864
https://hal.archives-ouvertes.fr/hal-01440749