Human plasma protein N-glycosylation

F Clerc, KR Reiding, BC Jansen, GSM Kammeijer… - Glycoconjugate …, 2016 - Springer
Glycosylation is the most abundant and complex protein modification, and can have a
profound structural and functional effect on the conjugate. The oligosaccharide fraction is …

Biological roles of glycans

A Varki - Glycobiology, 2017 - academic.oup.com
Simple and complex carbohydrates (glycans) have long been known to play major
metabolic, structural and physical roles in biological systems. Targeted microbial binding to …

Congenital disorders of glycosylation

IJ Chang, M He, CT Lam - Annals of translational medicine, 2018 - pmc.ncbi.nlm.nih.gov
Congenital disorders of glycosylation are a genetically and clinically heterogeneous group
of> 130 diseases caused by defects in various steps along glycan modification pathways …

Loci Associated with N-Glycosylation of Human Immunoglobulin G Show Pleiotropy with Autoimmune Diseases and Haematological Cancers

G Lauc, JE Huffman, M Pučić, L Zgaga… - PLoS …, 2013 - journals.plos.org
Glycosylation of immunoglobulin G (IgG) influences IgG effector function by modulating
binding to Fc receptors. To identify genetic loci associated with IgG glycosylation, we …

Perspectives on glycosylation and its congenital disorders

BG Ng, HH Freeze - Trends in Genetics, 2018 - cell.com
Congenital disorders of glycosylation (CDG) are a rapidly expanding group of metabolic
disorders that result from abnormal protein or lipid glycosylation. They are often difficult to …

Tethering the assembly of SNARE complexes

WJ Hong, S Lev - Trends in cell biology, 2014 - cell.com
The fusion of transport vesicles with their target membranes is fundamental for intracellular
membrane trafficking and diverse physiological processes and is driven by the assembly of …

[HTML][HTML] Metabolism, cell surface organization, and disease

JW Dennis, IR Nabi, M Demetriou - Cell, 2009 - cell.com
Genetic information flows from DNA to macromolecular structures—the dominant force in the
molecular organization of life. However, recent work suggests that metabolite availability to …

Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels

A Sassi, S Lazaroski, G Wu, SM Haslam… - Journal of allergy and …, 2014 - Elsevier
Background Recurrent bacterial and fungal infections, eczema, and increased serum IgE
levels characterize patients with the hyper-IgE syndrome (HIES). Known genetic causes for …

[HTML][HTML] SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

V Cantagrel, DJ Lefeber, BG Ng, Z Guan, JL Silhavy… - Cell, 2010 - cell.com
N-linked glycosylation is the most frequent modification of secreted and membrane-bound
proteins in eukaryotic cells, disruption of which is the basis of the congenital disorders of …

TMEM165 deficiency causes a congenital disorder of glycosylation

F Foulquier, M Amyere, J Jaeken, R Zeevaert… - The American Journal of …, 2012 - cell.com
Protein glycosylation is a complex process that depends not only on the activities of several
enzymes and transporters but also on a subtle balance between vesicular Golgi trafficking …