Understanding human glycosylation disorders: biochemistry leads the charge.
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Human neutrophils secrete bioactive paucimannosidic proteins from azurophilic granules into pathogen-infected sputumGlycan Engineering for Cell and Developmental BiologyRole of Flippases in Protein Glycosylation in the Endoplasmic ReticulumAntisense mediated splicing modulation for inherited metabolic diseases: challenges for deliveryNeurological aspects of human glycosylation disordersSialic acids in the brain: gangliosides and polysialic acid in nervous system development, stability, disease, and regenerationALG8-CDG: novel patients and review of the literature.Neonatal Cholestasis - Differential Diagnoses, Current Diagnostic Procedures, and TreatmentMutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and functionProtein O-Glucosyltransferase 1 (POGLUT1) Promotes Mouse Gastrulation through Modification of the Apical Polarity Protein CRUMBS2Metabolically programmed quality control system for dolichol-linked oligosaccharidesMutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathwayThe BiP molecular chaperone plays multiple roles during the biogenesis of torsinA, an AAA+ ATPase associated with the neurological disease early-onset torsion dystonia.GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.Golgi post-translational modifications and associated diseases.A glycogene mutation map for discovery of diseases of glycosylation.Mannose phosphate isomerase regulates fibroblast growth factor receptor family signaling and glioma radiosensitivity.Genome-wide next-generation DNA and RNA sequencing reveals a mutation that perturbs splicing of the phosphatidylinositol glycan anchor biosynthesis class H gene (PIGH) and causes arthrogryposis in Belgian Blue cattleCotranslational and posttranslocational N-glycosylation of proteins in the endoplasmic reticulum.Expanding the Molecular and Clinical Phenotype of SSR4-CDG.Site-specific analysis of changes in the glycosylation of proteins in liver cirrhosis using data-independent workflow with soft fragmentation.Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of GlycosylationMosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylationIgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia.Aberrant dolichol chain lengths as biomarkers for retinitis pigmentosa caused by impaired dolichol biosynthesis.Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis.Maturing Glycoproteomics Technologies Provide Unique Structural Insights into the N-glycoproteome and Its Regulation in Health and Disease.Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complexGlycoprotein folding and quality-control mechanisms in protein-folding diseasesThe challenge and promise of glycomics.Physiological Exploration of the Long Term Evolutionary Selection against Expression of N-Glycolylneuraminic Acid in the Brain.Therapeutic potential of placenta-derived stem cells for liver diseases: current status and perspectives.Solving glycosylation disorders: fundamental approaches reveal complicated pathways.Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.
P2860
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P2860
Understanding human glycosylation disorders: biochemistry leads the charge.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Understanding human glycosylation disorders: biochemistry leads the charge.
@ast
Understanding human glycosylation disorders: biochemistry leads the charge.
@en
type
label
Understanding human glycosylation disorders: biochemistry leads the charge.
@ast
Understanding human glycosylation disorders: biochemistry leads the charge.
@en
prefLabel
Understanding human glycosylation disorders: biochemistry leads the charge.
@ast
Understanding human glycosylation disorders: biochemistry leads the charge.
@en
P2860
P356
P1476
Understanding human glycosylation disorders: biochemistry leads the charge.
@en
P2860
P304
P356
10.1074/JBC.R112.429274
P407
P577
2013-01-17T00:00:00Z