Update and perspectives on congenital disorders of glycosylation. - Test2 - elhamkhani - TriplyDB

Update and perspectives on congenital disorders of glycosylation.

Update and perspectives on congenital disorders of glycosylation.

http://www.wikidata.org/entity/Q34110629

about

Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase COG-7-deficient Human Fibroblasts Exhibit Altered Recycling of Golgi Proteins Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG)Molecular simulations of carbohydrates and protein-carbohydrate interactions: motivation, issues and prospects Ablation of mouse phosphomannose isomerase (Mpi) causes mannose 6-phosphate accumulation, toxicity, and embryonic lethality Ubiquitous Importance of Protein Glycosylation.The fine structure of Caenorhabditis elegans N-glycans.Rapid and individual-specific glycoprofiling of the low abundance N-glycosylated protein tissue inhibitor of metalloproteinases-1.A glycomics platform for the analysis of permethylated oligosaccharide alditols.Optimizing performance of glycopeptide capture for plasma proteomics Solid-phase extraction of N-linked glycopeptides.Expression level and glycan dynamics determine the net effects of TIMP-1 on cancer progression Sialic acid-focused quantitative mouse serum glycoproteomics by multiple reaction monitoring assay.A novel method for relative quantitation of N-glycans by isotopic labeling using ¹⁸O-water Genetic defects in the human glycome.Sweet solution: sugars to the rescue Exploiting topological constraints to reveal buried sequence motifs in the membrane-bound N-linked oligosaccharyl transferases.Solid-phase methylamidation for sialoglycomics by MALDI-MS.Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 Gene Pitfalls and drawbacks in screening of congenital disorders of glycosylation.Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.Conditional control of selectin ligand expression and global fucosylation events in mice with a targeted mutation at the FX locus.A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency.Structural glycobiology: a game of snakes and ladders.A developmental and genetic classification for midbrain-hindbrain malformations.Biological roles of glycans.Optimization of tetracycline-responsive recombinant protein production and effect on cell growth and ER stress in mammalian cells.rhIGF-1 Therapy for Growth Failure and IGF-1 Deficiency in Congenital Disorder of Glycosylation Ia (PMM2 Deficiency).Comparison of Glycopeptide Fragmentation by Collision Induced Dissociation and Ultraviolet Photodissociation.Synthesis of boronate-silica hybrid affinity monolith via a one-pot process for specific capture of glycoproteins at neutral conditions.NMR application probes a novel and ubiquitous family of enzymes that alter monosaccharide configuration.Hepatic glycogen breakdown is implicated in the maintenance of plasma mannose concentration.Congenital 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.A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.Construction of a Database of Collision Cross Section Values for Glycopeptides, Glycans, and Peptides Determined by IM-MS.Role of N-glycosylation in cell surface expression and protection against proteolysis of the intestinal anion exchanger SLC26A3.

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P2860

Update and perspectives on congenital disorders of glycosylation.

http://www.wikidata.org/entity/Q34110629

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2001 nî lūn-bûn

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2001 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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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

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2001年論文

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2001年論文

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2001年论文

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Update and perspectives on congenital disorders of glycosylation.

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Update and perspectives on congenital disorders of glycosylation.

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Update and perspectives on congenital disorders of glycosylation.

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type

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Update and perspectives on congenital disorders of glycosylation.

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Update and perspectives on congenital disorders of glycosylation.

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Update and perspectives on congenital disorders of glycosylation.

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Update and perspectives on congenital disorders of glycosylation.

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Update and perspectives on congenital disorders of glycosylation.

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Update and perspectives on congenital disorders of glycosylation.

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P2860

Tissue- and site-specific DNA recombination in transgenic mice

A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic

Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene family

Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene

Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase

Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3

Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic

Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation

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

DPM2 regulates biosynthesis of dolichol phosphate-mannose in mammalian cells: correct subcellular localization and stabilization of DPM1, and binding of dolichol phosphate

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