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The protein encoded by POMGNT1 is a type II transmembrane protein that resides in the golgi. Zusätzlich bieten wir Ihnen Protein O-Linked Mannose Beta1,2-N-Acetylglucosaminyltransferase Antikörper (19) und Protein O-Linked Mannose Beta1,2-N-Acetylglucosaminyltransferase Kits (7) und viele weitere Produktgruppen zu diesem Protein an.
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Findings suggest that PomGnT1 promotes GBM progression via activation of beta-catenin (zeige CTNNB1 Proteine) and may serve as a prognostic factor for glioma patient survival as well as a novel molecular target for anticancer therapy in malignant glioma.
POMGnT1 gene knockout cause basement membrane disruptions in a mouse model of dystroglycanopathy.
Results describe the effect of altered glycosylation of alpha-dystroglycan caused by inactivation of POMGnT1 in the retina.
classical beta1,2-elongation and beta1,6-GlcNAc branching of O-mannose glycan structures are dependent upon the POMGnT1 enzyme and O-mannosylation is not limited solely to alpha-DG in the brain
POMGnT1 knockout mice were viable but with reduced fertility and variable lifespan
The present study provides the first genetic animal model to further dissect the roles of POMGnT1 in MEB disease.
From these findings, we propose that fukutin (zeige FKTN Proteine) forms a complex with POMGnT1 and may modulate its enzymatic activity.
POMGnT1(-/-) muscle showed minimal pathological changes with very low-serum creatine kinase levels, and had normally formed muscle basal lamina, but showed reduced muscle mass, reduced numbers of muscle fibers, and impaired muscle regeneration.
The authors have identified a novel mutation in POMGNT1 that causes nonsyndromic autosomal recessive retinitis pigmentosa, adding to the genetic heterogeneity of this retinal disease.
Study identified recessive POMGNT1 mutations in three unrelated non-syndromic retinitis pigmentosa families showing significant impaired POMGNT1 enzymatic activity.
When association tests were applied to data from the Diabetes Heart Study, it found exome variants of POMGNT1 and JAK1 (zeige JAK1 Proteine) genes were associated with type 2 diabetes.
POMGNT1 Is Glycosylated by Mucin (zeige SLC13A2 Proteine)-Type O-Glycans
study presents clinical, neuroradiological, and POMGNT1 findings in 12 muscle-eye-brain disease patients of Turkish origin from 10 families; suggests a genotype-phenotype correlation
Data indicate that Golgi phosphoprotein 3 (GOLPH3 (zeige GOLPH3 Proteine)) binds to and controls the Golgi localization of protein O-linked mannose beta-1,2-N-acetlyglucosaminyltransferase 1 (POMGnT1).
Identification of novel POMGnT1 mutations in Chinese patients with muscle-eye-brain disease.
POMGnT1 point mutations and protein expression are associated with variably severe muscle-eye-brain disease showing that severity of the phenotype does not correlate with protein expression.
Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.
This study demonistreated that Intragenic rearrangements in POMGNT1 gene in muscle-eye-brain disease.
The protein encoded by this gene is a type II transmembrane protein that resides in the golgi. It participates in O-mannosyl glycosylation, and is specific for alpha linked terminal mannose. Mutations in this gene are associated with muscle-eye-brain (MEB) disease. Alternatively spliced transcript variants have been found for this gene.
protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase
, O-linked mannose beta1,2-N-acetylglucosaminyltransferase
, protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1
, O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1
, O-mannosyl N-acetylglucosaminyltransferase
, UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2