A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.
about
Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylationResolving tumor heterogeneity: genes involved in chordoma cell development identified by low-template analysis of morphologically distinct cellsWrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.ALG11-CDG: Three novel mutations and further characterization of the phenotype.Dynamic changes in cell-surface expression of mannose in the oral epithelium during the development of graft-versus-host disease of the oral mucosa in rats.Physiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function.Congenital protein hypoglycosylation diseases.Congenital disorders of glycosylation (CDG): it's (nearly) all in it!Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.Congenital disorders of glycosylation and intellectual disability.Alg14 organizes the formation of a multiglycosyltransferase complex involved in initiation of lipid-linked oligosaccharide biosynthesis.Generation and degradation of free asparagine-linked glycans.N-glycoprotein macroheterogeneity: biological implications and proteomic characterization.Glucosamine induces ER stress by disrupting lipid-linked oligosaccharide biosynthesis and N-linked protein glycosylation.Defective ALG11 causes ALG11-CDG (CDG-1p)Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.Defective ALG11 does not transfer Man to the N-glycan precursorPMM2-CDG and sensorineural hearing loss.Identification and characterization of transcriptional control region of the human beta 1,4-mannosyltransferase gene.Employment of single-strand conformation polymorphism analysis in screening for α-1,3 glucosyltransferase gene mutation A333V in Croatian population.Glycosylation and related congenital defects
P2860
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P2860
A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.
description
2010 nî lūn-bûn
@nan
2010 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
A severe human metabolic disea ...... disorder of glycosylation-Ip.
@ast
A severe human metabolic disea ...... disorder of glycosylation-Ip.
@en
A severe human metabolic disea ...... disorder of glycosylation-Ip.
@nl
type
label
A severe human metabolic disea ...... disorder of glycosylation-Ip.
@ast
A severe human metabolic disea ...... disorder of glycosylation-Ip.
@en
A severe human metabolic disea ...... disorder of glycosylation-Ip.
@nl
prefLabel
A severe human metabolic disea ...... disorder of glycosylation-Ip.
@ast
A severe human metabolic disea ...... disorder of glycosylation-Ip.
@en
A severe human metabolic disea ...... disorder of glycosylation-Ip.
@nl
P2093
P2860
P921
P356
P1476
A severe human metabolic disea ...... disorder of glycosylation-Ip.
@en
P2093
Birgit Absmanner
Christian Körner
Christian Thiel
Ekkehard Wilichowski
Julia Hocks
Jürgen Lübbehusen
Ludwig Lehle
Neophytos Apeshiotis
Verena Schmeiser
P2860
P304
P356
10.1093/HMG/DDQ016
P577
2010-01-15T00:00:00Z