Congenital disorders of glycosylation: Still “hot” in 2020

N Ondruskova, A Cechova, H Hansikova… - … et Biophysica Acta (BBA …, 2021 - Elsevier
Background Congenital disorders of glycosylation (CDG) are inherited metabolic diseases
caused by defects in the genes important for the process of protein and lipid glycosylation …

Nutrition interventions in congenital disorders of glycosylation

SW Boyer, C Johnsen, E Morava - Trends in molecular medicine, 2022 - cell.com
Congenital disorders of glycosylation (CDG) are a group of more than 160 inborn errors of
metabolism affecting multiple pathways of protein and lipid glycosylation. Patients present …

FUT8-directed core fucosylation of N-glycans is regulated by the glycan structure and protein environment

A García-García, S Serna, Z Yang, I Delso, V Taleb… - ACS …, 2021 - ACS Publications
FUT8 is an essential α-1, 6-fucosyltransferase that fucosylates the innermost GlcNAc of N-
glycans, a process called core fucosylation. In vitro, FUT8 exhibits substrate preference for …

N-Glycosylation

T Hirata, Y Kizuka - The role of glycosylation in health and disease, 2021 - Springer
N-glycosylation is a highly conserved glycan modification, and more than 7000 proteins are
N-glycosylated in humans. N-glycosylation has many biological functions such as protein …

Analysis of carbohydrates and glycoconjugates by matrix‐assisted laser desorption/ionization mass spectrometry: An update for 2019–2020

DJ Harvey - Mass Spectrometry Reviews, 2023 - Wiley Online Library
This review is the tenth update of the original article published in 1999 on the application of
matrix‐assisted laser desorption/ionization (MALDI) mass spectrometry to the analysis of …

A spoonful of L‐fucose—an efficient therapy for GFUS‐CDG, a new glycosylation disorder

RG Feichtinger, A Hüllen, A Koller, D Kotzot… - EMBO Molecular …, 2021 - embopress.org
Congenital disorders of glycosylation are a genetically and phenotypically heterogeneous
family of diseases affecting the co‐and posttranslational modification of proteins. Using …

Treatment options in congenital disorders of glycosylation

JH Park, T Marquardt - Frontiers in Genetics, 2021 - frontiersin.org
Despite advances in the identification and diagnosis of congenital disorders of glycosylation
(CDG), treatment options remain limited and are often constrained to symptomatic …

Characterizing human α-1, 6-fucosyltransferase (FUT8) substrate specificity and structural similarities with related fucosyltransferases

BM Boruah, R Kadirvelraj, L Liu, A Ramiah, C Li… - Journal of Biological …, 2020 - ASBMB
Mammalian Asn-linked glycans are extensively processed as they transit the secretory
pathway to generate diverse glycans on cell surface and secreted glycoproteins. Additional …

Congenital disorders of glycosylation with defective fucosylation

A Hüllen, K Falkenstein, C Weigel… - Journal of inherited …, 2021 - Wiley Online Library
Fucosylation is essential for intercellular and intracellular recognition, cell‐cell interaction,
fertilization, and inflammatory processes. Only five types of congenital disorders of …

Inhibition of α (1, 6) fucosyltransferase: Effects on cell proliferation, migration, and adhesion in an SW480/SW620 syngeneic colorectal cancer model

R López-Cortés, L Muinelo-Romay… - International journal of …, 2022 - mdpi.com
The present study explored the impact of inhibiting α (1, 6) fucosylation (core fucosylation)
on the functional phenotype of a cellular model of colorectal cancer (CRC) malignization …