Golgi function and dysfunction in the first COG4-deficient CDG type II patient
about
TMEM165 deficiency causes a congenital disorder of glycosylationFatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylationNewly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cellsStrain-promoted alkyne-azide cycloadditions (SPAAC) reveal new features of glycoconjugate biosynthesisBridging the Gap between Glycosylation and Vesicle TrafficIn sickness and in health: the role of TRAPP and associated proteins in diseaseStructural basis for a human glycosylation disorder caused by mutation of the COG4 geneThe interactome of the copper transporter ATP7A belongs to a network of neurodevelopmental and neurodegeneration factors.Comparative analyses of the Conserved Oligomeric Golgi (COG) complex in vertebratesThe impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation.Conserved oligomeric Golgi complex specifically regulates the maintenance of Golgi glycosylation machinery.Deficiency of the Cog8 subunit in normal and CDG-derived cells impairs the assembly of the COG and Golgi SNARE complexes.Neurology of inherited glycosylation disorders.Cog2 null mutant CHO cells show defective sphingomyelin synthesis.Golgi post-translational modifications and associated diseases.Identification of the first COG-CDG patient of Indian origin.Molecular organization of the COG vesicle tethering complex.Analysis of carbohydrates and glycoconjugates by matrix-assisted laser desorption/ionization mass spectrometry: an update for 2009-2010.Mislocalization of large ARF-GEFs as a potential mechanism for BFA resistance in COG-deficient cells.Physiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function.Defects in the COG complex and COG-related trafficking regulators affect neuronal Golgi function.Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype.COG Complex Complexities: Detailed Characterization of a Complete Set of HEK293T Cells Lacking Individual COG SubunitsCongenital protein hypoglycosylation diseases.COG5-CDG: expanding the clinical spectrum.Role of vesicle tethering factors in the ER-Golgi membrane traffic.Multipronged interaction of the COG complex with intracellular membranes.How Golgi glycosylation meets and needs trafficking: the case of the COG complex.Congenital disorders of glycosylation (CDG): it's (nearly) all in it!Golgi glycosylation and human inherited diseases.COPII and COPI traffic at the ER-Golgi interface.Re'COG'nition at the Golgi.Glycosylation disorders of membrane trafficking.Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.Glycosylation Quality Control by the Golgi StructureMutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation.Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.The role of acroblast formation during Drosophila spermatogenesis.Fluorescent microscopy as a tool to elucidate dysfunction and mislocalization of Golgi glycosyltransferases in COG complex depleted mammalian cells.The conserved oligomeric Golgi complex is required for fucosylation of N-glycans in Caenorhabditis elegans.
P2860
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P2860
Golgi function and dysfunction in the first COG4-deficient CDG type II patient
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 03 June 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
@cs
name
Golgi function and dysfunction in the first COG4-deficient CDG type II patient
@en
Golgi function and dysfunction in the first COG4-deficient CDG type II patient.
@nl
type
label
Golgi function and dysfunction in the first COG4-deficient CDG type II patient
@en
Golgi function and dysfunction in the first COG4-deficient CDG type II patient.
@nl
prefLabel
Golgi function and dysfunction in the first COG4-deficient CDG type II patient
@en
Golgi function and dysfunction in the first COG4-deficient CDG type II patient.
@nl
P2093
P2860
P356
P1476
Golgi function and dysfunction in the first COG4-deficient CDG type II patient
@en
P2093
Cathérine Rabouille
Elisa Leão Teles
Ellen Reynders
Gert Matthijs
Willy Morelle
Wim Annaert
P2860
P304
P356
10.1093/HMG/DDP262
P577
2009-06-03T00:00:00Z