A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If) - Wikidata - thesis-toulmin - TriplyDB

A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)

A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)

http://www.wikidata.org/entity/Q24564917

about

Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies Human RFT1 deficiency leads to a disorder of N-linked glycosylation A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy 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 proteins Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI-TOF MS.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.Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin.Physiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function.Both PIGA and PIGL mutations cause GPI-a deficient isolates in the Tk6 cell line.Life with too much polyprenol: polyprenol reductase deficiency.Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.Congenital protein hypoglycosylation diseases.Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms.The skeletal manifestations of the congenital disorders of glycosylation.Mass spectrometry in the characterization of human genetic N-glycosylation defects.From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases.Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.Congenital disorders of glycosylation and intellectual disability.A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes.The clinical relevance of glycobiology.DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.Congenital disorders of glycosylation: other causes of ichthyosis A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.Oral D-galactose supplementation in PGM1-CDG.Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.Defective MPDU1 does not promote transfer of Man to N-glycan precursor (GlcNAc)2 (Man)7 (PP-Dol)1 by ALG12 MPDU1 regulates CEACAM1 and cell adhesion in vitro and in vivo.Defective MPDU1 does not promote transfer of Man to (GlcNAc)2 (Man)8 (PP-Dol)1 by ALG9 Defective MPDU1 does not promote transfer of Man to (GlcNAc)2 (Man)6 (PP-Dol)1 by ALG9

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P2860

A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)

http://www.wikidata.org/entity/Q24564917

description

2001 nî lūn-bûn

@nan

2001 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2001 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2001年の論文

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2001年論文

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2001年論文

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2001年論文

@zh-hk

2001年論文

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2001年論文

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2001年论文

@wuu

name

A mutation in the human MPDU1 ...... glycosylation type If (CDG-If)

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A mutation in the human MPDU1 ...... glycosylation type If (CDG-If)

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A mutation in the human MPDU1 ...... glycosylation type If (CDG-If)

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type

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A mutation in the human MPDU1 ...... glycosylation type If (CDG-If)

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A mutation in the human MPDU1 ...... glycosylation type If (CDG-If)

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A mutation in the human MPDU1 ...... glycosylation type If (CDG-If)

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A mutation in the human MPDU1 ...... glycosylation type If (CDG-If)

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A mutation in the human MPDU1 ...... glycosylation type If (CDG-If)

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A mutation in the human MPDU1 ...... glycosylation type If (CDG-If)

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Journal of Clinical Investigation

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A mutation in the human MPDU1 ...... glycosylation type If (CDG-If)

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C Kranz

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D Sagi

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G Kreissel

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H H Freeze

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J Peter-Katalinic

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M A Lehrman

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P Kienz

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S Jackowski-Dohrmann

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P2860

Requirement of the Lec35 gene for all known classes of monosaccharide-P-dolichol-dependent glycosyltransferase reactions in mammals

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy

Congenital disorders of glycosylation: glycosylation defects in man and biological models for their study.

Expression cloning of a novel suppressor of the Lec15 and Lec35 glycosylation mutations of Chinese hamster ovary cells.

Sequencing of N-linked oligosaccharides directly from protein gels: in-gel deglycosylation followed by matrix-assisted laser desorption/ionization mass spectrometry and normal-phase high-performance liquid chromatography.

Truncated N-glycans affect protein folding in the ER of CHO-derived mutant cell lines without preventing calnexin binding.

Correction of leukocyte adhesion deficiency type II with oral fucose.

A block at Man5GlcNAc2-pyrophosphoryldolichol in intact but not disrupted castanospermine and swainsonine-resistant Chinese hamster ovary cells.

Pleiotropic resistance to glycoprotein processing inhibitors in Chinese hamster ovary cells. The role of a novel mutation in the asparagine-linked glycosylation pathway.

Discontinuation of fucose therapy in LADII causes rapid loss of selectin ligands and rise of leukocyte counts.

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1613-9

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10.1172/JCI13635

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11

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108

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11733556

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200991

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