Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.
about
Metabolic manipulation of glycosylation disorders in humans and animal modelsDolichol biosynthesis and its effects on the unfolded protein response and abiotic stress resistance in Arabidopsis.Analysis of glycoproteins in human serum by means of glycospecific magnetic bead separation and LC-MALDI-TOF/TOF analysis with automated glycopeptide detection.Glycan reductive isotope labeling for quantitative glycomicsMass 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.Synthesis, Processing, and Function of N-glycans in N-glycoproteins.Improvement of dolichol-linked oligosaccharide biosynthesis by the squalene synthase inhibitor zaragozic acid.Sialic acids attached to N- and O-glycans within the Nav1.4 D1S5-S6 linker contribute to channel gating.RFT1 deficiency in three novel CDG patientsLiver disease and HPLC quantification of disialotransferrin for heavy alcohol use: a case seriesTargeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of GlycosylationTowards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients.The Golgi apparatus: lessons from Drosophila.Protein glycosylation in Candida.Neonatal neuroimaging findings in inborn errors of metabolism.Congenital disorders of glycosylation and intellectual disability.The role of post-translational modifications in hearing and deafness.Genome-wide association study and biological pathway analysis of the Eimeria maxima response in broilers.Sialic acids attached to O-glycans modulate voltage-gated potassium channel gating.Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome.Ethanol-induced impairment in the biosynthesis of N-linked glycosylation.Phenotypic Heterogeneity in a Congenital Disorder of Glycosylation Caused by Mutations in STT3A.A novel homozygous mutation in the mannose phosphate isomerase gene causing congenital disorder of glycation and hyperinsulinemic hypoglycemia in an infant.Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.Two Arabidopsis thaliana Golgi alpha-mannosidase I enzymes are responsible for plant N-glycan maturation.
P2860
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P2860
Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Congenital disorders of N-glyc ...... ll as N-glycosylation defects.
@ast
Congenital disorders of N-glyc ...... ll as N-glycosylation defects.
@en
type
label
Congenital disorders of N-glyc ...... ll as N-glycosylation defects.
@ast
Congenital disorders of N-glyc ...... ll as N-glycosylation defects.
@en
prefLabel
Congenital disorders of N-glyc ...... ll as N-glycosylation defects.
@ast
Congenital disorders of N-glyc ...... ll as N-glycosylation defects.
@en
P2860
P1433
P1476
Congenital disorders of N-glyc ...... ll as N-glycosylation defects.
@en
P2093
Jules G Leroy
P2860
P304
P356
10.1203/01.PDR.0000246802.57692.EA
P407
P577
2006-10-25T00:00:00Z
P5875
P6179
1019224663