Congenital disorders of glycosylation: a rapidly expanding disease family.
about
Golgi localization of glycosyltransferases requires a Vps74p oligomerStructure of human POFUT2: insights into thrombospondin type 1 repeat fold and O-fucosylationTMEM165 deficiency causes a congenital disorder of glycosylationSRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorderAutosomal recessive cutis laxa syndrome revisitedHuman RFT1 deficiency leads to a disorder of N-linked glycosylationGlycosylation of matrix metalloproteases and tissue inhibitors: present state, challenges and opportunitiesStructural basis for a human glycosylation disorder caused by mutation of the COG4 geneVariation of Human Salivary O-GlycomeMetabolic manipulation of glycosylation disorders in humans and animal modelsCongenital myasthenic syndromes due to mutations in ALG2 and ALG14.Functional states of homooligomers: insights from the evolution of glycosyltransferases.Label-free analysis of o-glycosylation site-occupancy based on the signal intensity of glycopeptide/peptide ionsGene-network analysis identifies susceptibility genes related to glycobiology in autismMutations in four glycosyl hydrolases reveal a highly coordinated pathway for rhodopsin biosynthesis and N-glycan trimming in Drosophila melanogaster.GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.The compartmentalisation of phosphorylated free oligosaccharides in cells from a CDG Ig patient reveals a novel ER-to-cytosol translocation processChanges in fetal mannose and other carbohydrates induced by a maternal insulin infusion in pregnant sheep.Neural and synaptic defects in slytherin, a zebrafish model for human congenital disorders of glycosylation.The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation.Bioinformatics and molecular modeling in glycobiology.A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.Glycan analysis by reversible reaction to hydrazide beads and mass spectrometry.Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patient.Endopeptidase cleavage generates a functionally distinct isoform of C1q/tumor necrosis factor-related protein-12 (CTRP12) with an altered oligomeric state and signaling specificityDetection of the heterogeneous O-glycosylation profile of MT1-MMP expressed in cancer cells by a simple MALDI-MS method.A novel fluorescent assay for T-synthase activity.Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.Improvement of dolichol-linked oligosaccharide biosynthesis by the squalene synthase inhibitor zaragozic acid.RFT1 deficiency in three novel CDG patientsCDG nomenclature: time for a change!MAN1B1 deficiency: an unexpected CDG-IIFibrotic response in fibroblasts from congenital disorders of glycosylation.Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG.Systems glycobiology: biochemical reaction networks regulating glycan structure and function.Glycosylated synaptomatrix regulation of trans-synaptic signaling.Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.The molecular genetics of autism spectrum disorders: genomic mechanisms, neuroimmunopathology, and clinical implicationsCharacterization of the post-translational modification of recombinant human BMP-15 mature protein.
P2860
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P2860
Congenital disorders of glycosylation: a rapidly expanding disease family.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Congenital disorders of glycosylation: a rapidly expanding disease family.
@en
type
label
Congenital disorders of glycosylation: a rapidly expanding disease family.
@en
prefLabel
Congenital disorders of glycosylation: a rapidly expanding disease family.
@en
P1476
Congenital disorders of glycosylation: a rapidly expanding disease family.
@en
P2093
Gert Matthijs
Jaak Jaeken
P304
P356
10.1146/ANNUREV.GENOM.8.080706.092327
P577
2007-01-01T00:00:00Z