Protein O-Linked Mannose Beta1,2-N-Acetylglucosaminyltransferase (POMGNT1) ELISA Kits

Mouse (Murine) Protein O-Linked Mannose Beta1,2-N-Acetylglucosaminyltransferase (POMGNT1) Interaktionspartner

1. Findings suggest that PomGnT1 promotes GBM progression via activation of beta-catenin and may serve as a prognostic factor for glioma patient survival as well as a novel molecular target for anticancer therapy in malignant glioma.

2. POMGnT1 gene knockout cause basement membrane disruptions in a mouse model of dystroglycanopathy.

3. Results describe the effect of altered glycosylation of alpha-dystroglycan caused by inactivation of POMGnT1 in the retina.

4. 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

5. POMGnT1 knockout mice were viable but with reduced fertility and variable lifespan

6. The present study provides the first genetic animal model to further dissect the roles of POMGnT1 in MEB disease.

7. From these findings, we propose that fukutin forms a complex with POMGnT1 and may modulate its enzymatic activity.

8. 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.

Human Protein O-Linked Mannose Beta1,2-N-Acetylglucosaminyltransferase (POMGNT1) Interaktionspartner

1. Genetic testing revealed two known heterozygous mutations in the POMGnT1 gene confirming muscular dystrophy-dystroglycanopathy type A (MDDGA3), one of a group of diseases collectively known as congenital muscular dystrophies, is an alpha-dystroglycanopathy with characteristic brain and ocular abnormalities.

2. Next-generation sequencing data analysis revealed that all three muscle-eye-brain disease patients had the same novel copy number variations (CNV) g.6668-8257del, which was homozygous in patient 1 and heterozygous in patients 2 and 3.

3. These findings demonstrate that PomGnT1 might be a new focus of glioblastoma (GBM)research for treatment of recurrent Temozolomide -resistant GBM

4. 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.

5. Study identified recessive POMGNT1 mutations in three unrelated non-syndromic retinitis pigmentosa families showing significant impaired POMGNT1 enzymatic activity.

6. When association tests were applied to data from the Diabetes Heart Study, it found exome variants of POMGNT1 and JAK1 genes were associated with type 2 diabetes.

7. POMGNT1 Is Glycosylated by Mucin-Type O-Glycans

8. 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

9. Data indicate that Golgi phosphoprotein 3 (GOLPH3) binds to and controls the Golgi localization of protein O-linked mannose beta-1,2-N-acetlyglucosaminyltransferase 1 (POMGnT1).

10. Identification of novel POMGnT1 mutations in Chinese patients with muscle-eye-brain disease.

11. 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.

12. Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.

13. This study demonistreated that Intragenic rearrangements in POMGNT1 gene in muscle-eye-brain disease.

14. these results show that the amino acid sequence affects POMGnT1 activity.

15. This study gives a comprehensive biochemical evaluation of all clinically relevant POMGnT1 point mutations known to date, which have been linked to muscle-eye-brain disease or similar conditions.

16. the function of the gene products is only known for POMT1, POMT2, and POMGnT1, all responsible for the O-mannosylglycan biosynthesis

17. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the MEB locus, in three Tunisian patients

18. Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. 13 mutations have been identified in patients with MEB. The mutant POMGnT1s were expressed and none had any activity.

19. Results describe the identification of a novel O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGnT1) gene missense mutation in muscle-eye-brain disease.

20. DNA mutational analysis and phenotypes in patients with muscle-eye-brain disease