Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)
about
Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylationMPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type IfDPM1, the catalytic subunit of dolichol-phosphate mannose synthase, is tethered to and stabilized on the endoplasmic reticulum membrane by DPM3Congenital 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 biosynthesisCongenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophyA 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 glycosylationA broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 casesNeurological aspects of human glycosylation disordersN-glycans in cell survival and death: cross-talk between glycosyltransferasesStructure of the polyisoprenyl-phosphate glycosyltransferase GtrB and insights into the mechanism of catalysisStructural studies and mechanism of Saccharomyces cerevisiae dolichyl-phosphate-mannose synthase: insights into the initial step of synthesis of dolichyl-phosphate-linked oligosaccharide chains in membranes of endoplasmic reticulum.Distinct flippases translocate glycerophospholipids and oligosaccharide diphosphate dolichols across the endoplasmic reticulum.DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteinsAutosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylationAnalysis and metabolic engineering of lipid-linked oligosaccharides in glycosylation-deficient CHO cellsGenomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).Update and perspectives on congenital disorders of glycosylation.Congenital disorders of glycosylation: glycosylation defects in man and biological models for their study.The congenital disorders of glycosylation: a multifaceted group of syndromes.Mannose metabolism: more than meets the eye.Improvement of dolichol-linked oligosaccharide biosynthesis by the squalene synthase inhibitor zaragozic acid.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.Peracetylated N-acetylmannosamine, a synthetic sugar molecule, efficiently rescues muscle phenotype and biochemical defects in mouse model of sialic acid-deficient myopathyTargeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.Congenital protein hypoglycosylation diseases.Specific transbilayer translocation of dolichol-linked oligosaccharides by an endoplasmic reticulum flippase.Glycosylation diseases: quo vadis?Protein glycosylation in Candida.Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation.From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases.
P2860
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P2860
Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)
description
2000 nî lūn-bûn
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2000 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Dolichol phosphate mannose syn ...... r of glycosylation Ie (CDG-Ie)
@ast
Dolichol phosphate mannose syn ...... r of glycosylation Ie (CDG-Ie)
@en
Dolichol phosphate mannose syn ...... r of glycosylation Ie (CDG-Ie)
@nl
type
label
Dolichol phosphate mannose syn ...... r of glycosylation Ie (CDG-Ie)
@ast
Dolichol phosphate mannose syn ...... r of glycosylation Ie (CDG-Ie)
@en
Dolichol phosphate mannose syn ...... r of glycosylation Ie (CDG-Ie)
@nl
prefLabel
Dolichol phosphate mannose syn ...... r of glycosylation Ie (CDG-Ie)
@ast
Dolichol phosphate mannose syn ...... r of glycosylation Ie (CDG-Ie)
@en
Dolichol phosphate mannose syn ...... r of glycosylation Ie (CDG-Ie)
@nl
P2093
P2860
P921
P356
P1476
Dolichol phosphate mannose syn ...... r of glycosylation Ie (CDG-Ie)
@en
P2093
G Srikrishna
H H Freeze
M C Patterson
P S Karnes
S Peterson
V Westphal
P2860
P356
10.1172/JCI7302
P407
P577
2000-01-01T00:00:00Z