N-linked glycosylation and homeostasis of the endoplasmic reticulum

N Cherepanova, S Shrimal, R Gilmore - Current opinion in cell biology, 2016 - Elsevier
As a major site of protein biosynthesis, homeostasis of the endoplasmic reticulum is critical
for cell viability. Asparagine linked glycosylation of newly synthesized proteins by the …

Cotranslational and posttranslocational N-glycosylation of proteins in the endoplasmic reticulum

S Shrimal, NA Cherepanova, R Gilmore - Seminars in cell & developmental …, 2015 - Elsevier
Asparagine linked glycosylation of proteins is an essential protein modification reaction in
most eukaryotic organisms. N-linked oligosaccharides are important for protein folding and …

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

A Piton, C Redin, JL Mandel - The American Journal of Human Genetics, 2013 - cell.com
Because of the unbalanced sex ratio (1.3–1.4 to 1) observed in intellectual disability (ID) and
the identification of large ID-affected families showing X-linked segregation, much attention …

An update on XMEN disease

JC Ravell, SD Chauvin, T He, M Lenardo - Journal of clinical immunology, 2020 - Springer
Abstract “X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV)
infection, and neoplasia”(XMEN) disease is an inborn error of glycosylation and immunity …

Magnesium transporter 1 (MAGT1) deficiency causes selective defects in N-linked glycosylation and expression of immune-response genes

M Matsuda-Lennikov, M Biancalana, J Zou… - Journal of Biological …, 2019 - ASBMB
Magnesium transporter 1 (MAGT1) critically mediates magnesium homeostasis in
eukaryotes and is highly-conserved across different evolutionary branches. In humans, loss …

Oxidoreductase activity is necessary for N-glycosylation of cysteine-proximal acceptor sites in glycoproteins

NA Cherepanova, S Shrimal, R Gilmore - Journal of Cell Biology, 2014 - rupress.org
Stabilization of protein tertiary structure by disulfides can interfere with glycosylation of
acceptor sites (NXT/S) in nascent polypeptides. Here, we show that MagT1, an ER-localized …

Mammalian cells lacking either the cotranslational or posttranslocational oligosaccharyltransferase complex display substrate-dependent defects in asparagine linked …

NA Cherepanova, R Gilmore - Scientific reports, 2016 - nature.com
Asparagine linked glycosylation of proteins is an essential protein modification reaction in
most eukaryotic organisms. Metazoan organisms express two oligosaccharyltransferase …

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability

RLP Santos-Cortez, V Khan, FS Khan, ZN Mughal… - Human genetics, 2018 - Springer
Identification of Mendelian genes for neurodevelopmental disorders using exome
sequencing to study autosomal recessive (AR) consanguineous pedigrees has been highly …

Glycoprotein folding and quality-control mechanisms in protein-folding diseases

SP Ferris, VK Kodali… - Disease models & …, 2014 - journals.biologists.com
Biosynthesis of proteins–from translation to folding to export–encompasses a complex set of
events that are exquisitely regulated and scrutinized to ensure the functional quality of the …

Structural basis of substrate specificity of human oligosaccharyl transferase subunit N33/Tusc3 and its role in regulating protein N-glycosylation

E Mohorko, RL Owen, G Malojčić, MS Brozzo, M Aebi… - Structure, 2014 - cell.com
N-linked glycosylation of proteins in the endoplasmic reticulum (ER) is essential in
eukaryotes and catalyzed by oligosaccharyl transferase (OST). Human OST is a hetero …