Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij
about
Overexpression of DPAGT1 leads to aberrant N-glycosylation of E-cadherin and cellular discohesion in oral cancerIdentification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.Human RFT1 deficiency leads to a disorder of N-linked glycosylationNeurological aspects of human glycosylation disordersProtein N-glycosylation in oral cancer: dysregulated cellular networks among DPAGT1, E-cadherin adhesion and canonical Wnt signalingCongenital myasthenic syndromes due to mutations in ALG2 and ALG14.DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.Hypoglycosylated E-cadherin promotes the assembly of tight junctions through the recruitment of PP2A to adherens junctions.N-glycosylation gene DPAGT1 is a target of the Wnt/beta-catenin signaling pathway.An evolving view of the eukaryotic oligosaccharyltransferase.The congenital disorders of glycosylation: a multifaceted group of syndromes.Cotranslational and posttranslocational N-glycosylation of proteins in the endoplasmic reticulum.Physiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function.Aberrant amplification of the crosstalk between canonical Wnt signaling and N-glycosylation gene DPAGT1 promotes oral cancer.Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping.Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.Congenital protein hypoglycosylation diseases.Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms.A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotypeClinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.Cytogenetic findings in mentally retarded Iranian patients.Glycosylation diseases: quo vadis?Mouse models for congenital disorders of glycosylation.Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.Congenital disorders of glycosylation and intellectual disability.Solving glycosylation disorders: fundamental approaches reveal complicated pathways.Congenital disorders of glycosylation: new defects and still counting.Inherited disorders of the neuromuscular junction: an update.Generation and degradation of free asparagine-linked glycans.DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.Modeling a congenital disorder of glycosylation type I in C. elegans: a genome-wide RNAi screen for N-glycosylation-dependent loci.Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.CDG type Ia and congenital cytomegalovirus infection: two coexisting conditions.Defective DPAGT1 causes DPAGT1-CDG (CDG-1j) and CMSTA2GlcNAc-1-P-transferase-tunicamycin complex structure reveals basis for inhibition of N-glycosylation.Defective DPAGT1 does not transfer GlcNAc to DOLP
P2860
Q24339041-EFFBEF4A-3AFA-4A1D-99C1-59F96F253C0CQ24533520-778F3B8C-73BE-48C6-8006-CAA2F8EBA96EQ24534224-BF156C95-1796-4470-A0EE-AD32DF7B4FC2Q24655471-E62E0DE7-CB1E-4801-A6A7-05C07D56D41DQ26830686-B72EE961-510A-4B59-A3C2-3299884BF471Q26861795-BCE28395-640D-454E-81AA-EA3C33F02E40Q30457921-B0F34DDA-44CF-4F59-88D0-F26C4EA54799Q33672621-AB0D2967-679D-42BF-AD70-817D213E7C41Q33886330-B41CEA81-B179-48DF-B421-5C394D817E2CQ34181227-162037DF-9DBB-4209-AEE4-7279D1E5A0C2Q34471377-C389B7EF-E208-4FE7-86F9-E049F2521E24Q34504298-88F08DA9-2D71-4F62-AAAA-6608AFC771E3Q35639884-7E2D3EB5-CDFC-4A72-83B5-80F8CA397F73Q35981911-6084A060-58FA-40D7-94BD-F0F370E165D1Q35996100-1C765450-35C6-46DA-A335-4D4D98DEF1F3Q36096079-342EF8AA-F57D-46B7-AD90-4BED84158435Q36433218-E13A12AF-C059-4901-8610-D31CD006D3BCQ36433297-DC8D1579-A7A5-411A-AF5B-11B423A5E860Q36634791-F3EC3B5C-FDE0-4730-871C-FDD22A1BF952Q36695784-C479954D-201A-4F75-A05A-7EBD3F50FB55Q36925245-21CC5879-4868-408E-B9CC-EA54A15E0AA0Q36982652-29D32DE7-A36E-4E02-9D5C-034ECCB26561Q37043798-1BF21038-404C-4F56-9D4A-93467AC0DD0BQ37101772-982605F2-9259-4E73-98EC-59E95714794AQ37181507-0C1317B9-DEB1-436F-943B-47FCC09991E9Q37343144-C4B64663-2A2C-40BE-B240-87F8F735889DQ37846554-28020894-1888-478F-877C-0C7FCBF832A3Q38043952-8F5FB0D0-9904-464B-A5A7-F05EA33AB482Q38116810-4B60BE41-4C0E-4B2D-8ED5-3912E68D7FE1Q38186249-16E864D6-5D79-4B60-BBD3-C35FE5F1137AQ38211994-4675A84E-871B-4DCF-BA1A-7200D7EF76ECQ38259083-7CDF32AF-E758-469A-85E4-C8647D4B1088Q38378683-639167A0-F782-4514-B767-EAC497561FB7Q41002500-7736E0F2-AABD-414D-BDDD-49308C0FFBA6Q41971316-9751D20B-01E5-4298-8D1D-729C3D7590D5Q44189852-0144A38C-7AA5-47AF-8436-F57E14ADFCEAQ44534690-04C3DAE0-AA98-4613-AE62-C92E7FC5AD42Q45316535-C68F4D29-CC5C-40C5-9367-26F595F5CAFFQ49829949-FCB56166-D737-41BD-B394-D7AE957B39C0Q50289215-8B11919C-1120-437D-A4E5-D69E08D10603
P2860
Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij
description
2003 nî lūn-bûn
@nan
2003 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Deficiency of UDP-GlcNAc:Dolic ...... order of Glycosylation Type Ij
@ast
Deficiency of UDP-GlcNAc:Dolic ...... order of Glycosylation Type Ij
@en
Deficiency of UDP-GlcNAc:Dolic ...... order of Glycosylation Type Ij
@en-gb
Deficiency of UDP-GlcNAc:Dolic ...... order of Glycosylation Type Ij
@nl
type
label
Deficiency of UDP-GlcNAc:Dolic ...... order of Glycosylation Type Ij
@ast
Deficiency of UDP-GlcNAc:Dolic ...... order of Glycosylation Type Ij
@en
Deficiency of UDP-GlcNAc:Dolic ...... order of Glycosylation Type Ij
@en-gb
Deficiency of UDP-GlcNAc:Dolic ...... order of Glycosylation Type Ij
@nl
prefLabel
Deficiency of UDP-GlcNAc:Dolic ...... order of Glycosylation Type Ij
@ast
Deficiency of UDP-GlcNAc:Dolic ...... order of Glycosylation Type Ij
@en
Deficiency of UDP-GlcNAc:Dolic ...... order of Glycosylation Type Ij
@en-gb
Deficiency of UDP-GlcNAc:Dolic ...... order of Glycosylation Type Ij
@nl
P2093
P921
P356
P1433
P1476
Deficiency of UDP-GlcNAc:Dolic ...... order of Glycosylation Type Ij
@en
P2093
Charles J Waechter
Denise Karaoglu
Donna Krasnewich
Jeffrey S Rush
Mark S Lubinsky
Reid Gilmore
Xiaohua Wu
P304
P356
10.1002/HUMU.10239
P407
P577
2003-08-01T00:00:00Z