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 …

[HTML][HTML] Quality control of protein complex assembly by the ubiquitin–proteasome system

C Pla-Prats, NH Thomä - Trends in Cell Biology, 2022 - cell.com
The majority of human proteins operate as multimeric complexes with defined compositions
and distinct architectures. How the assembly of these complexes is surveyed and how …

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 …

Membrane trafficking in health and disease

R Yarwood, J Hellicar… - Disease models & …, 2020 - journals.biologists.com
Membrane trafficking pathways are essential for the viability and growth of cells, and play a
major role in the interaction of cells with their environment. In this At a Glance article and …

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2

U Kornak, E Reynders, A Dimopoulou… - Nature …, 2008 - nature.com
We identified loss-of-function mutations in ATP6V0A2, encoding the a2 subunit of the V-type
H+ ATPase, in several families with autosomal recessive cutis laxa type II or wrinkly skin …

Glycosylation quality control by the Golgi structure

X Zhang, Y Wang - Journal of molecular biology, 2016 - Elsevier
Glycosylation is a ubiquitous modification that occurs on proteins and lipids in all living cells.
Consistent with their high complexity, glycans play crucial biological roles in protein quality …

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 …

Neurology of inherited glycosylation disorders

HH Freeze, EA Eklund, BG Ng… - The Lancet Neurology, 2012 - thelancet.com
Congenital disorders of glycosylation comprise most of the nearly 70 genetic disorders
known to be caused by impaired synthesis of glycoconjugates. The effects are expressed in …

COPII and COPI traffic at the ER-Golgi interface

T Szul, E Sztul - Physiology, 2011 - journals.physiology.org
Protein traffic is necessary to maintain homeostasis in all eukaryotic organisms. All newly
synthesized secretory proteins destined to the secretory and endolysosmal systems are …

Maintaining order: COG complex controls Golgi trafficking, processing, and sorting

JB Blackburn, Z D'Souza, VV Lupashin - FEBS letters, 2019 - Wiley Online Library
The conserved oligomeric Golgi (COG) complex, a multisubunit tethering complex of the
CATCHR (complexes associated with tethering containing helical rods) family, controls …