Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.
about
TMEM115 is an integral membrane protein of the Golgi complex involved in retrograde transportTMEM165 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 cellsAutosomal recessive cutis laxa syndrome revisitedStrain-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 geneA new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation.Regulators of cellular levels of histone acetylation in Saccharomyces cerevisiaeThe 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 vertebratesCRISPR/Cas9-mediated gene knockout screens and target identification via whole-genome sequencing uncover host genes required for picornavirus infection.The 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.PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.Neurology of inherited glycosylation disorders.Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patient.Cog2 null mutant CHO cells show defective sphingomyelin synthesis.Golgi post-translational modifications and associated diseases.Genetic defects in the human glycome.Identification of the first COG-CDG patient of Indian origin.Role of the conserved oligomeric Golgi (COG) complex in protein glycosylationMolecular organization of the COG vesicle tethering complex.The COG complex interacts directly with Syntaxin 6 and positively regulates endosome-to-TGN retrograde transport.Mislocalization of large ARF-GEFs as a potential mechanism for BFA resistance in COG-deficient cells.Molecular and clinical characterization of a Moroccan Cog7 deficient patientPhysiologic 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.Interaction of the conserved oligomeric Golgi complex with t-SNARE Syntaxin5a/Sed5 enhances intra-Golgi SNARE complex stability.Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype.C. elegans as a model system to study the function of the COG complex in animal development.Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.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.Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survivalGolgi function and dysfunction in the first COG4-deficient CDG type II patient
P2860
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P2860
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.
description
2006 nî lūn-bûn
@nan
2006 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Conserved oligomeric Golgi com ...... rder of glycosylation type II.
@ast
Conserved oligomeric Golgi com ...... rder of glycosylation type II.
@en
Conserved oligomeric Golgi com ...... rder of glycosylation type II.
@nl
type
label
Conserved oligomeric Golgi com ...... rder of glycosylation type II.
@ast
Conserved oligomeric Golgi com ...... rder of glycosylation type II.
@en
Conserved oligomeric Golgi com ...... rder of glycosylation type II.
@nl
prefLabel
Conserved oligomeric Golgi com ...... rder of glycosylation type II.
@ast
Conserved oligomeric Golgi com ...... rder of glycosylation type II.
@en
Conserved oligomeric Golgi com ...... rder of glycosylation type II.
@nl
P2093
P2860
P50
P921
P356
P1476
Conserved oligomeric Golgi com ...... rder of glycosylation type II.
@en
P2093
Bryan Winchester
Eliza Vasile
Els Schollen
Gert Matthijs
Jaak Jaeken
Monty Krieger
Tim Raemaekers
Wim Annaert
P2860
P304
P356
10.1073/PNAS.0507685103
P407
P577
2006-02-28T00:00:00Z