MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If
about
Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferaseA new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesisA deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylationDeficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type IgDeficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathiesHuman RFT1 deficiency leads to a disorder of N-linked glycosylationNeurological aspects of human glycosylation disordersDoes Rft1 flip an N-glycan lipid precursor?Distinct flippases translocate glycerophospholipids and oligosaccharide diphosphate dolichols across the endoplasmic reticulum.Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapyDHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylationWrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.The fine structure of Caenorhabditis elegans N-glycans.Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin.Stereoselective transbilayer translocation of mannosyl phosphoryl dolichol by an endoplasmic reticulum flippase.Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.An evolving view of the eukaryotic oligosaccharyltransferase.The congenital disorders of glycosylation: a multifaceted group of syndromes.Mannose metabolism: more than meets the eye.Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.Genetic defects in dolichol metabolism.Congenital disorders of glycosylation: a review.Fibrotic response in fibroblasts from congenital disorders of glycosylation.Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin.Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.Both PIGA and PIGL mutations cause GPI-a deficient isolates in the Tk6 cell line.Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.Congenital protein hypoglycosylation diseases.Glycoprotein biosynthesis in a eukaryote lacking the membrane protein Rft1.A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activityThe skeletal manifestations of the congenital disorders of glycosylation.Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps.The role of sterol-C4-methyl oxidase in epidermal biologyHeritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation.Skin manifestations in CDG.The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Glycosylphosphatidylinositol mannosyltransferase II is the rate-limiting enzyme in glycosylphosphatidylinositol biosynthesis under limited dolichol-phosphate mannose availability.The clinical relevance of glycobiology.Traffic jams II: an update of diseases of intracellular transport.
P2860
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P2860
MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If
description
2001 nî lūn-bûn
@nan
2001 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
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name
MPDU1 mutations underlie a nov ...... cosylation, designated type If
@ast
MPDU1 mutations underlie a nov ...... cosylation, designated type If
@en
MPDU1 mutations underlie a nov ...... cosylation, designated type If
@en-gb
MPDU1 mutations underlie a nov ...... cosylation, designated type If
@nl
type
label
MPDU1 mutations underlie a nov ...... cosylation, designated type If
@ast
MPDU1 mutations underlie a nov ...... cosylation, designated type If
@en
MPDU1 mutations underlie a nov ...... cosylation, designated type If
@en-gb
MPDU1 mutations underlie a nov ...... cosylation, designated type If
@nl
prefLabel
MPDU1 mutations underlie a nov ...... cosylation, designated type If
@ast
MPDU1 mutations underlie a nov ...... cosylation, designated type If
@en
MPDU1 mutations underlie a nov ...... cosylation, designated type If
@en-gb
MPDU1 mutations underlie a nov ...... cosylation, designated type If
@nl
P2093
P2860
P921
P3181
P1476
MPDU1 mutations underlie a nov ...... cosylation, designated type If
@en
P2093
A Raas-Rotschild
C E Grubenmann
E G Berger
G Matthijs
G V Raymond
I Korn-Lubetzki
P2860
P304
P3181
P356
10.1172/JCI13419
10.1172/JCI200113419
P407
P577
2001-12-01T00:00:00Z