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1993 3
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208 results

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Page 1
Glycosyltransferase POMGNT1 deficiency strengthens N-cadherin-mediated cell-cell adhesion.
Noor SI, Hoffmann M, Rinis N, Bartels MF, Winterhalter PR, Hoelscher C, Hennig R, Himmelreich N, Thiel C, Ruppert T, Rapp E, Strahl S. Noor SI, et al. J Biol Chem. 2021 Jan-Jun;296:100433. doi: 10.1016/j.jbc.2021.100433. Epub 2021 Feb 18. J Biol Chem. 2021. PMID: 33610554 Free PMC article.
In addition to defects in cell-extracellular matrix adhesion, aberrant cell-cell adhesion has occasionally been observed in response to defects in POMGNT1. However, specific molecular consequences of POMGNT1 deficiency on cell-cell adhesion are largely unknown. We u …
In addition to defects in cell-extracellular matrix adhesion, aberrant cell-cell adhesion has occasionally been observed in response to defe …
FAM3B/PANDER-Like Carbohydrate-Binding Domain in a Glycosyltransferase, POMGNT1.
Manya H, Kuwabara N, Kato R, Endo T. Manya H, et al. Methods Mol Biol. 2020;2132:609-619. doi: 10.1007/978-1-0716-0430-4_52. Methods Mol Biol. 2020. PMID: 32306360
Our recent study revealed that the stem domain of POMGNT1 has a carbohydrate-binding ability, which recognizes the GalNAcbeta1-3GlcNAc structure. ...This protocol describes methods to assess the carbohydrate-binding activity of the POMGNT1 stem domain....
Our recent study revealed that the stem domain of POMGNT1 has a carbohydrate-binding ability, which recognizes the GalNAcbeta1-3GlcNA …
POMGNT1 Is Glycosylated by Mucin-Type O-Glycans.
Xin X, Akasaka-Manya K, Manya H, Furukawa J, Kuwahara N, Okada K, Tsumoto H, Higashi N, Kato R, Shinohara Y, Irimura T, Endo T. Xin X, et al. Biol Pharm Bull. 2015;38(9):1389-94. doi: 10.1248/bpb.b15-00415. Biol Pharm Bull. 2015. PMID: 26328495 Free article.
POMGNT1 is not modified by N-glycans because there are no potential N-glycosylation sites; however, it is not clear whether POMGNT1 is modified by O-glycans. To determine whether POMGNT1 is O-glycosylated, we prepared recombinant human POMGNT1 from HEK …
POMGNT1 is not modified by N-glycans because there are no potential N-glycosylation sites; however, it is not clear whether POMGNT …
Nonsyndromic Retinitis Pigmentosa Overview.
Fahim AT, Daiger SP, Weleber RG. Fahim AT, et al. 2000 Aug 4 [updated 2023 Apr 6]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2000 Aug 4 [updated 2023 Apr 6]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301590 Free Books & Documents. Review.
Enzyme assay of protein O-linked-mannose beta1,2-N-acetylglucosaminyltransferase 1 and protein O-linked-mannose beta1,4-N-acetylglucosaminyltransferase 2 (POMGNT1/2).
Akasaka-Manya K, Manya H, Endo T. Akasaka-Manya K, et al. 2022 Jan 25 [updated 2022 Mar 24]. In: Nishihara S, Angata K, Aoki-Kinoshita KF, Hirabayashi J, editors. Glycoscience Protocols (GlycoPODv2) [Internet]. Saitama (JP): Japan Consortium for Glycobiology and Glycotechnology; 2021–. 2022 Jan 25 [updated 2022 Mar 24]. In: Nishihara S, Angata K, Aoki-Kinoshita KF, Hirabayashi J, editors. Glycoscience Protocols (GlycoPODv2) [Internet]. Saitama (JP): Japan Consortium for Glycobiology and Glycotechnology; 2021–. PMID: 37590579 Free Books & Documents. Review. No abstract available.
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.
Song D, Dai Y, Chen X, Fu X, Chang X, Wang N, Zhang C, Yan C, Zheng H, Wu L, Jiang L, Hua Y, Yang H, Wang Z, Dai T, Zhu W, Han C, Yuan Y, Kobayashi K, Toda T, Xiong H. Song D, et al. Clin Genet. 2021 Mar;99(3):384-395. doi: 10.1111/cge.13886. Epub 2021 Jan 19. Clin Genet. 2021. PMID: 33200426
In 143 patients, mutations in FKRP gene were the most prevalent (62 patients), followed by POMT2, POMT1 (16), POMGNT1, ISPD (14), FKTN, GMPPB, B3GALNT2, DPM3, and DAG1. Several frequent mutations were identified in FKRP, POMT1, POMGNT1, ISPD, and FKTN genes. ...Pati …
In 143 patients, mutations in FKRP gene were the most prevalent (62 patients), followed by POMT2, POMT1 (16), POMGNT1, ISPD (14), FKT …
PomGnT1 enhances temozolomide resistance by activating epithelial-mesenchymal transition signaling in glioblastoma.
Liu Q, Xue Y, Chen Q, Chen H, Zhang X, Wang L, Han C, Que S, Lou M, Lan J. Liu Q, et al. Oncol Rep. 2017 Nov;38(5):2911-2918. doi: 10.3892/or.2017.5964. Epub 2017 Sep 19. Oncol Rep. 2017. PMID: 29048655
Knockdown of PomGnT1 in both U87-TR and U251-TR cells led to decreased IC50 values for TMZ and enhanced apoptosis. ...These findings demonstrate that PomGnT1 might be a new focus of GBM research for treatment of recurrent TMZ-resistant GBM....
Knockdown of PomGnT1 in both U87-TR and U251-TR cells led to decreased IC50 values for TMZ and enhanced apoptosis. ...These findings …
Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.
Jiao H, Manya H, Wang S, Zhang Y, Li X, Xiao J, Yang Y, Kobayashi K, Toda T, Endo T, Wu X, Xiong H. Jiao H, et al. Mol Genet Genomics. 2013 Aug;288(7-8):297-308. doi: 10.1007/s00438-013-0749-5. Epub 2013 May 21. Mol Genet Genomics. 2013. PMID: 23689641
Pathogenicity of the two novel variants in one patient was confirmed by POMGnT1 enzyme activity assay, protein expression and subcellular localization of mutant POMGnT1 in HeLa cells. Transfected cells harboring this patient's L440R mutant POMGnT1 showed P …
Pathogenicity of the two novel variants in one patient was confirmed by POMGnT1 enzyme activity assay, protein expression and subcell …
Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease.
Liu YD, Tan DD, Song DY, Fan YB, Fu XN, Ge L, Wei W, Xiong H. Liu YD, et al. Front Genet. 2023 Jun 5;14:1170089. doi: 10.3389/fgene.2023.1170089. eCollection 2023. Front Genet. 2023. PMID: 37342771 Free PMC article.
POMGNT1, encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1, is one of the genes responsible for dystroglycanopathy (DGP), which includes multiple phenotypes such as muscle-eye-brain disease (MEB), …
POMGNT1, encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase …
Variable Ophthalmologic Phenotypes Associated with Biallelic Loss-of-Function Variants in POMGNT1.
Ziccardi L, Barbano L, D'Andrea M, Bruselles A, Dell'Aquila C, Niceta M, Mancini C, Leone A, Carvetta M, Albanese M, Stellacci E, Tartaglia M, Cordeddu V. Ziccardi L, et al. Int J Mol Sci. 2025 Apr 1;26(7):3278. doi: 10.3390/ijms26073278. Int J Mol Sci. 2025. PMID: 40244109 Free PMC article.
In the retina, POMGNT1 is expressed in photoreceptors and is localized near the photoreceptor cilium basal body, a structure critical for protein transport. ...These findings provide further evidence of the clinical variability associated with defective POMGNT1 func …
In the retina, POMGNT1 is expressed in photoreceptors and is localized near the photoreceptor cilium basal body, a structure critical …
208 results