about
A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation.Golgi N-glycosyltransferases form both homo- and heterodimeric enzyme complexes in live cells.The search for glycan function: fucosylation of the TGF-beta1 receptor is required for receptor activationST3GAL3 mutations impair the development of higher cognitive functions.Site-specific N-glycosylation identification of recombinant human lectin-like oxidized low density lipoprotein receptor-1 (LOX-1).Increased N-glycosylation of Asn⁸⁸ in serum pancreatic ribonuclease 1 is a novel diagnostic marker for pancreatic cancerElevated Golgi pH in breast and colorectal cancer cells correlates with the expression of oncofetal carbohydrate T-antigen.Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.Pitfalls and drawbacks in screening of congenital disorders of glycosylation.Cytogenetics and gene discovery in psychiatric disorders.Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype.Congenital protein hypoglycosylation diseases.A lectin-based approach to detecting carcinogenesis in breast tissueHuman plasma protein N-glycosylationGolgi function and dysfunction in the first COG4-deficient CDG type II patientPrimary immunodeficiency diseases associated with neurologic manifestations.A genome-wide CRISPR screen reconciles the role of N-linked glycosylation in galectin-3 transport to the cell surface.Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylationBiological roles of glycans.Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report.CDG type Ia and congenital cytomegalovirus infection: two coexisting conditions.Diseases of glycosylationDiseases associated with N-glycosylation of proteinsCongenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.Recurrent thrombo-embolism in a child with a congenital disorder of glycosylation (CDG) type Ib and treatment with mannose.Functional analysis of SLC39A8 mutations and their implications for manganese deficiency and mitochondrial disorders.Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation.Defective protein glycosylation in patients with cutis laxa syndrome.Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.Stable isotopic labeling-based quantitative targeted glycomics (i-QTaG).
P2860
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P2860
description
2002 nî lūn-bûn
@nan
2002 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Congenital disorders of glycosylation: a review.
@ast
Congenital disorders of glycosylation: a review.
@en
Congenital disorders of glycosylation: a review.
@nl
type
label
Congenital disorders of glycosylation: a review.
@ast
Congenital disorders of glycosylation: a review.
@en
Congenital disorders of glycosylation: a review.
@nl
prefLabel
Congenital disorders of glycosylation: a review.
@ast
Congenital disorders of glycosylation: a review.
@en
Congenital disorders of glycosylation: a review.
@nl
P2093
P2860
P1433
P1476
Congenital disorders of glycosylation: a review.
@en
P2093
Gert Matthijs
Jaak Jaeken
Stephanie Grunewald
P2860
P304
P356
10.1203/00006450-200211000-00003
P407
P577
2002-11-01T00:00:00Z
P5875
P6179
1036791433