Literature DB >> 24153356

Alkynyl monosaccharide analogues as a tool for evaluating Golgi glycosylation efficiency: application to Congenital Disorders of Glycosylation (CDG).

Jorick Vanbeselaere1, Dorothée Vicogne, Gert Matthijs, Christophe Biot, François Foulquier, Yann Guerardel.   

Abstract

The visualization of Golgi glycosylation defects in patients' cells with Congenital Disorders of Glycosylation (CDG) is challenging and necessitates the use of cumbersome glycan analysis methods that are barely adapted to clinical research. We show here that metabolic labelling of patient cells with alkyne-tagged sialic-acid (SiaNAl) enables an easy and reliable readout assay for the detection of CDG occurrence. It also provides valuable clues regarding the pathological processes by assessing the distribution of sialic acid analogues within the cells.

Entities:  

Mesh：

Substances：

Year:  2013        PMID： 24153356     DOI： 10.1039/c3cc45914d

Source DB:  PubMed          Journal:  Chem Commun (Camb)        ISSN： 1359-7345            Impact factor:   6.222


  5 in total

1.  TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.

Authors:  Jos C Jansen; Sharita Timal; Monique van Scherpenzeel; Helen Michelakakis; Dorothée Vicogne; Angel Ashikov; Marina Moraitou; Alexander Hoischen; Karin Huijben; Gerry Steenbergen; Marjolein A W van den Boogert; Francesco Porta; Pier Luigi Calvo; Mersyni Mavrikou; Giovanna Cenacchi; Geert van den Bogaart; Jody Salomon; Adriaan G Holleboom; Richard J Rodenburg; Joost P H Drenth; Martijn A Huynen; Ron A Wevers; Eva Morava; François Foulquier; Joris A Veltman; Dirk J Lefeber
Journal:  Am J Hum Genet       Date:  2016-01-28       Impact factor: 11.025

2.  CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.

Authors:  Jos C Jansen; Sebahattin Cirak; Monique van Scherpenzeel; Sharita Timal; Janine Reunert; Stephan Rust; Belén Pérez; Dorothée Vicogne; Peter Krawitz; Yoshinao Wada; Angel Ashikov; Celia Pérez-Cerdá; Celia Medrano; Andrea Arnoldy; Alexander Hoischen; Karin Huijben; Gerry Steenbergen; Dulce Quelhas; Luisa Diogo; Daisy Rymen; Jaak Jaeken; Nathalie Guffon; David Cheillan; Lambertus P van den Heuvel; Yusuke Maeda; Olaf Kaiser; Ulrike Schara; Patrick Gerner; Marjolein A W van den Boogert; Adriaan G Holleboom; Marie-Cécile Nassogne; Etienne Sokal; Jody Salomon; Geert van den Bogaart; Joost P H Drenth; Martijn A Huynen; Joris A Veltman; Ron A Wevers; Eva Morava; Gert Matthijs; François Foulquier; Thorsten Marquardt; Dirk J Lefeber
Journal:  Am J Hum Genet       Date:  2016-01-28       Impact factor: 11.025

3.  Chemical glycomics enrichment: imaging the recycling of sialic acid in living cells.

Authors:  Pierre André Gilormini; Cédric Lion; Dorothée Vicogne; Yann Guérardel; François Foulquier; Christophe Biot
Journal:  J Inherit Metab Dis       Date:  2018-01-02       Impact factor: 4.982

4.  Differential Labeling of Glycoproteins with Alkynyl Fucose Analogs.

Authors:  Chenyu Ma; Hideyuki Takeuchi; Huilin Hao; Chizuko Yonekawa; Kazuki Nakajima; Masamichi Nagae; Tetsuya Okajima; Robert S Haltiwanger; Yasuhiko Kizuka
Journal:  Int J Mol Sci       Date:  2020-08-20       Impact factor: 5.923

5.  Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.

Authors:  Guido Vogt; Naji El Choubassi; Ágnes Herczegfalvi; Heike Kölbel; Anja Lekaj; Ulrike Schara; Manuel Holtgrewe; Sabine Krause; Rita Horvath; Markus Schuelke; Christoph Hübner; Stefan Mundlos; Andreas Roos; Hanns Lochmüller; Veronika Karcagi; Uwe Kornak; Björn Fischer-Zirnsak
Journal:  J Inherit Metab Dis       Date:  2021-02-04       Impact factor: 4.750
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.