Sort   by:  
 Page size 
ProteomicsGlycosyltransferase POMGnT1 deficiency affects N-cadherin-mediated cell-cell adhesion
Deficiencies in the protein O-mannose β1,2-N-acetylglucosaminyltransferase 1 (POMGNT1), a glycosyltransferase involved in the elongation of classic O-mannosyl glycans, are mainly associated with muscle-eye-brain disease (MEB), a genetically heterogeneous congenital muscular dystrophy with brain and ...
ORGANISM(S): Homo sapiens (Human) 
2021-02-18 | PXD021321 | Pride
Pomgnt1 Pmgt1 Protein o-linked-mannose beta-1 2-n-acetylglucosaminyltransferase 1 Meb Pomgnt1 Mannosylation Muscular dystrophy-dystroglycanopathy Muscle-eye-brain disease Pomgnt1 
UnknownRole of glycosyltransferase PomGnT1 in glioblastoma progression.
Not available
S-EPMC4288519 | biostudies-literature
UnknownGlycosyltransferase POMGNT1 deficiency strengthens N-cadherin-mediated cell-cell adhesion.
Not available
S-EPMC7994789 | biostudies-literature
UnknownMutations in POMGNT1 cause non-syndromic retinitis pigmentosa.
Not available
S-EPMC4805308 | biostudies-literature
UnknownExpression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease.
Not available
S-EPMC4911909 | biostudies-literature
UnknownCarbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of α-dystroglycan.
Not available
S-EPMC4995984 | biostudies-literature
UnknownNovel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.
Not available
S-EPMC3405532 | biostudies-literature
UnknownBiochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.
Not available
S-EPMC3133881 | biostudies-literature
UnknownPromoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.
Not available
S-EPMC3421125 | biostudies-literature
UnknownUniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease.
Not available
S-EPMC10277930 | biostudies-literature
Sort   by:  
 Page size