Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.
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Oxidoreductase activity is necessary for N-glycosylation of cysteine-proximal acceptor sites in glycoproteinsMammalian cells lacking either the cotranslational or posttranslocational oligosaccharyltransferase complex display substrate-dependent defects in asparagine linked glycosylationMannose metabolism: more than meets the eye.Mass spectrometry approach and ELISA reveal the effect of codon optimization on N-linked glycosylation of HIV-1 gp120Cotranslational and posttranslocational N-glycosylation of proteins in the endoplasmic reticulum.Reduced expression of the oligosaccharyltransferase exacerbates protein hypoglycosylation in cells lacking the fully assembled oligosaccharide donor.Enhanced Aromatic Sequons Increase Oligosaccharyltransferase Glycosylation Efficiency and Glycan Homogeneity.Expanding the Molecular and Clinical Phenotype of SSR4-CDG.Glycosylation of closely spaced acceptor sites in human glycoproteins.A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complexDefining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.Congenital disorders of glycosylation: new defects and still counting.N-glycoprotein macroheterogeneity: biological implications and proteomic characterization.N-linked glycosylation and homeostasis of the endoplasmic reticulumImmune Diseases Associated with TREX1 and STING Dysfunction.Construction of green fluorescence protein mutant to monitor STT3B-dependent N-glycosylation.Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.DC2 and KCP2 mediate the interaction between the oligosaccharyltransferase and the ER translocon.Phenotypic Heterogeneity in a Congenital Disorder of Glycosylation Caused by Mutations in STT3A.Novel functional variants at the GWAS-implicated loci might confer risk to major depressive disorder, bipolar affective disorder and schizophrenia.
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Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.
description
article científic
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article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
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scientific article published on 10 July 2013
@en
vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.
@en
Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.
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type
label
Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.
@en
Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.
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prefLabel
Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.
@en
Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.
@nl
P2093
P2860
P356
P1476
Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.
@en
P2093
Bobby G Ng
Marie-Estelle Losfeld
Reid Gilmore
P2860
P304
P356
10.1093/HMG/DDT312
P577
2013-07-10T00:00:00Z