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Journal Abstract Search

228 related items for PubMed ID: 21361872

  • 1. Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.
    Voglmeir J, Kaloo S, Laurent N, Meloni MM, Bohlmann L, Wilson IB, Flitsch SL.
    Biochem J; 2011 Jun 01; 436(2):447-55. PubMed ID: 21361872
    [Abstract] [Full Text] [Related]

  • 2. Glycosylation with ribitol-phosphate in mammals: New insights into the O-mannosyl glycan.
    Manya H, Endo T.
    Biochim Biophys Acta Gen Subj; 2017 Oct 01; 1861(10):2462-2472. PubMed ID: 28711406
    [Abstract] [Full Text] [Related]

  • 3. Pikachurin interaction with dystroglycan is diminished by defective O-mannosyl glycosylation in congenital muscular dystrophy models and rescued by LARGE overexpression.
    Hu H, Li J, Zhang Z, Yu M.
    Neurosci Lett; 2011 Feb 01; 489(1):10-5. PubMed ID: 21129441
    [Abstract] [Full Text] [Related]

  • 4. Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration.
    Tachikawa M, Kanagawa M, Yu CC, Kobayashi K, Toda T.
    J Biol Chem; 2012 Mar 09; 287(11):8398-406. PubMed ID: 22275357
    [Abstract] [Full Text] [Related]

  • 5. Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of α-dystroglycan.
    Kuwabara N, Manya H, Yamada T, Tateno H, Kanagawa M, Kobayashi K, Akasaka-Manya K, Hirose Y, Mizuno M, Ikeguchi M, Toda T, Hirabayashi J, Senda T, Endo T, Kato R.
    Proc Natl Acad Sci U S A; 2016 Aug 16; 113(33):9280-5. PubMed ID: 27493216
    [Abstract] [Full Text] [Related]

  • 6. 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.
    J Biol Chem; 2021 Aug 16; 296():100433. PubMed ID: 33610554
    [Abstract] [Full Text] [Related]

  • 7. GTDC2 modifies O-mannosylated α-dystroglycan in the endoplasmic reticulum to generate N-acetyl glucosamine epitopes reactive with CTD110.6 antibody.
    Ogawa M, Nakamura N, Nakayama Y, Kurosaka A, Manya H, Kanagawa M, Endo T, Furukawa K, Okajima T.
    Biochem Biophys Res Commun; 2013 Oct 11; 440(1):88-93. PubMed ID: 24041696
    [Abstract] [Full Text] [Related]

  • 8. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.
    Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, Inazu T, Mitsuhashi H, Takahashi S, Takeuchi M, Herrmann R, Straub V, Talim B, Voit T, Topaloglu H, Toda T, Endo T.
    Dev Cell; 2001 Nov 11; 1(5):717-24. PubMed ID: 11709191
    [Abstract] [Full Text] [Related]

  • 9. Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.
    Saredi S, Ardissone A, Ruggieri A, Mottarelli E, Farina L, Rinaldi R, Silvestri E, Gandioli C, D'Arrigo S, Salerno F, Morandi L, Grammatico P, Pantaleoni C, Moroni I, Mora M.
    J Neurol Sci; 2012 Jul 15; 318(1-2):45-50. PubMed ID: 22554691
    [Abstract] [Full Text] [Related]

  • 10. Effects of length and amino acid sequence of O-mannosyl peptides on substrate specificity of protein O-linked mannose β1,2-N-acetylglucosaminyltransferase 1 (POMGnT1).
    Akasaka-Manya K, Manya H, Mizuno M, Inazu T, Endo T.
    Biochem Biophys Res Commun; 2011 Jul 08; 410(3):632-6. PubMed ID: 21684258
    [Abstract] [Full Text] [Related]

  • 11. Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
    Hehr U, Uyanik G, Gross C, Walter MC, Bohring A, Cohen M, Oehl-Jaschkowitz B, Bird LM, Shamdeen GM, Bogdahn U, Schuierer G, Topaloglu H, Aigner L, Lochmüller H, Winkler J.
    Neurogenetics; 2007 Nov 08; 8(4):279-88. PubMed ID: 17906881
    [Abstract] [Full Text] [Related]

  • 12. Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.
    Buysse K, Riemersma M, Powell G, van Reeuwijk J, Chitayat D, Roscioli T, Kamsteeg EJ, van den Elzen C, van Beusekom E, Blaser S, Babul-Hirji R, Halliday W, Wright GJ, Stemple DL, Lin YY, Lefeber DJ, van Bokhoven H.
    Hum Mol Genet; 2013 May 01; 22(9):1746-54. PubMed ID: 23359570
    [Abstract] [Full Text] [Related]

  • 13. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
    Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E.
    Neurology; 2009 May 26; 72(21):1802-9. PubMed ID: 19299310
    [Abstract] [Full Text] [Related]

  • 14. Deficiency of alpha-dystroglycan in muscle-eye-brain disease.
    Kano H, Kobayashi K, Herrmann R, Tachikawa M, Manya H, Nishino I, Nonaka I, Straub V, Talim B, Voit T, Topaloglu H, Endo T, Yoshikawa H, Toda T.
    Biochem Biophys Res Commun; 2002 Mar 15; 291(5):1283-6. PubMed ID: 11883957
    [Abstract] [Full Text] [Related]

  • 15. A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1).
    Liu J, Ball SL, Yang Y, Mei P, Zhang L, Shi H, Kaminski HJ, Lemmon VP, Hu H.
    Mech Dev; 2006 Mar 15; 123(3):228-40. PubMed ID: 16458488
    [Abstract] [Full Text] [Related]

  • 16. Protein O-Linked Mannose β-1,4-N-Acetylglucosaminyl-transferase 2 (POMGNT2) Is a Gatekeeper Enzyme for Functional Glycosylation of α-Dystroglycan.
    Halmo SM, Singh D, Patel S, Wang S, Edlin M, Boons GJ, Moremen KW, Live D, Wells L.
    J Biol Chem; 2017 Feb 10; 292(6):2101-2109. PubMed ID: 27932460
    [Abstract] [Full Text] [Related]

  • 17. SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function.
    Yoshida-Moriguchi T, Willer T, Anderson ME, Venzke D, Whyte T, Muntoni F, Lee H, Nelson SF, Yu L, Campbell KP.
    Science; 2013 Aug 23; 341(6148):896-9. PubMed ID: 23929950
    [Abstract] [Full Text] [Related]

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  • 19. Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene.
    Raducu M, Cotarelo RP, Simón R, Camacho A, Rubio-Fernández M, Hernández-Laín A, Cruces J.
    J Child Neurol; 2014 Feb 23; 29(2):289-94. PubMed ID: 24282183
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