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The protein encoded by DPAGT1 is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. De plus, nous expédions Dolichyl-Phosphate (UDP-N-Acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P Transferase) Anticorps (53) et Dolichyl-Phosphate (UDP-N-Acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P Transferase) Kits (4) et beaucoup plus de produits pour cette protéine.
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present work improves our knowledge of DPAGT1-CDG and provides bases for developing tailored splicing and folding therapies
Studies show that cells coordinate DPAGT1 expression and protein N (Montrer NP Protéines)-glycosylation with canonical Wnt (Montrer WNT2 Protéines) signaling and E-cadherin (Montrer CDH1 Protéines) adhesion via positive and negative feedback mechanisms.
prominent limb-girdle weakness and minimal craniobulbar symptoms who harbour a novel mutation in DPAGT1
Patients with DPAGT1 CMS (Montrer Cd2ap Protéines) share similar clinical features with patients who have CMS (Montrer Cd2ap Protéines) caused by mutations in GFPT1 (Montrer GFPT1 Protéines), another recently identified CMS (Montrer Cd2ap Protéines) subtype.
Results indicate that the clinical spectrum of dolichyl-phosphate alpha-N-acetylglucosaminyltransferase (DPAGT1)-congenital disorders of glycosylation (CDG) is much broader than appreciated so far.
Data suggest that in oral squamous cell carcinoma (OSCC), dysregulation of canonical Wnt (Montrer WNT2 Protéines) signaling and DPAGT1-dependent N-glycosylation induces CTHRC1 (Montrer CTHRC1 Protéines), thereby driving OSCC cell migration and tumor spread.
suggest that the primary pathogenic mechanism of DPAGT1-associated CMS (Montrer Cd2ap Protéines) is reduced levels of AChRs at the endplate region. This finding demonstrates that impairment of the N-linked glycosylation pathway can lead to the development of CMS (Montrer Cd2ap Protéines)
Overexpression of DPAGT1 in human oral squamous cell carcinoma specimens is linked to aberrant activation of canonical Wnt (Montrer WNT2 Protéines) signaling.
We identify DPAGT1 as a gene in which mutations cause a congenital myasthenic syndrome.
Mutations in DPAGT1 gene is associated with Congenital disorder of glycosylation type Ij.
The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme.
, N-acetylglucosamine-1-phosphate transferase
, UDP-N-acetylglucosamine lysosomal enzyme N-acetylglucosamine phosphotransferase
, UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase
, dolichyl-phosphate alpha-N-acetylglucosaminephosphotransferase 2
, glcNAc-1-P transferase
, GlcNAc-1-P transferase
, uridine diphosphate N-acetyl D-glucosamine dolichol phosphate N-acetyl-glucosamine-1 phosphate transferase
, UDP-GlcNAc:dolichyl-phosphate N-acetylglucosaminephosphotransferase
, dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P tra
, dolichyl-phosphate alpha-N-acetylglucosaminyltransferase
, UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase