These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

168 related articles for article (PubMed ID: 26687144)

  • 1. Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation.
    Riemersma M; Froese DS; van Tol W; Engelke UF; Kopec J; van Scherpenzeel M; Ashikov A; Krojer T; von Delft F; Tessari M; Buczkowska A; Swiezewska E; Jae LT; Brummelkamp TR; Manya H; Endo T; van Bokhoven H; Yue WW; Lefeber DJ
    Chem Biol; 2015 Dec; 22(12):1643-52. PubMed ID: 26687144
    [TBL] [Abstract][Full Text] [Related]  

  • 2. ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.
    Gerin I; Ury B; Breloy I; Bouchet-Seraphin C; Bolsée J; Halbout M; Graff J; Vertommen D; Muccioli GG; Seta N; Cuisset JM; Dabaj I; Quijano-Roy S; Grahn A; Van Schaftingen E; Bommer GT
    Nat Commun; 2016 May; 7():11534. PubMed ID: 27194101
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition.
    Praissman JL; Willer T; Sheikh MO; Toi A; Chitayat D; Lin YY; Lee H; Stalnaker SH; Wang S; Prabhakar PK; Nelson SF; Stemple DL; Moore SA; Moremen KW; Campbell KP; Wells L
    Elife; 2016 Apr; 5():. PubMed ID: 27130732
    [TBL] [Abstract][Full Text] [Related]  

  • 4. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
    Cirak S; Foley AR; Herrmann R; Willer T; Yau S; Stevens E; Torelli S; Brodd L; Kamynina A; Vondracek P; Roper H; Longman C; Korinthenberg R; Marrosu G; Nürnberg P; ; Michele DE; Plagnol V; Hurles M; Moore SA; Sewry CA; Campbell KP; Voit T; Muntoni F
    Brain; 2013 Jan; 136(Pt 1):269-81. PubMed ID: 23288328
    [TBL] [Abstract][Full Text] [Related]  

  • 5. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
    Willer T; Lee H; Lommel M; Yoshida-Moriguchi T; de Bernabe DB; Venzke D; Cirak S; Schachter H; Vajsar J; Voit T; Muntoni F; Loder AS; Dobyns WB; Winder TL; Strahl S; Mathews KD; Nelson SF; Moore SA; Campbell KP
    Nat Genet; 2012 May; 44(5):575-80. PubMed ID: 22522420
    [TBL] [Abstract][Full Text] [Related]  

  • 6. ISPD Overexpression Enhances Ribitol-Induced Glycosylation of α-Dystroglycan in Dystrophic FKRP Mutant Mice.
    Cataldi MP; Blaeser A; Lu P; Leroy V; Lu QL
    Mol Ther Methods Clin Dev; 2020 Jun; 17():271-280. PubMed ID: 31988979
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy.
    Kanagawa M; Toda T
    J Neuromuscul Dis; 2017; 4(4):259-267. PubMed ID: 29081423
    [TBL] [Abstract][Full Text] [Related]  

  • 8. PCYT2 synthesizes CDP-glycerol in mammals and reduced PCYT2 enhances the expression of functionally glycosylated α-dystroglycan.
    Imae R; Manya H; Tsumoto H; Miura Y; Endo T
    J Biochem; 2021 Oct; 170(2):183-194. PubMed ID: 34255834
    [TBL] [Abstract][Full Text] [Related]  

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

  • 10. The Muscular Dystrophy Gene TMEM5 Encodes a Ribitol β1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan.
    Manya H; Yamaguchi Y; Kanagawa M; Kobayashi K; Tajiri M; Akasaka-Manya K; Kawakami H; Mizuno M; Wada Y; Toda T; Endo T
    J Biol Chem; 2016 Nov; 291(47):24618-24627. PubMed ID: 27733679
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Drosophila Dystroglycan is a target of O-mannosyltransferase activity of two protein O-mannosyltransferases, Rotated Abdomen and Twisted.
    Nakamura N; Stalnaker SH; Lyalin D; Lavrova O; Wells L; Panin VM
    Glycobiology; 2010 Mar; 20(3):381-94. PubMed ID: 19969597
    [TBL] [Abstract][Full Text] [Related]  

  • 12. CDP-ribitol prodrug treatment ameliorates ISPD-deficient muscular dystrophy mouse model.
    Tokuoka H; Imae R; Nakashima H; Manya H; Masuda C; Hoshino S; Kobayashi K; Lefeber DJ; Matsumoto R; Okada T; Endo T; Kanagawa M; Toda T
    Nat Commun; 2022 Apr; 13(1):1847. PubMed ID: 35422047
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Endogenous reductase activities for the generation of ribitol-phosphate, a CDP-ribitol precursor, in mammals.
    Hoshino S; Manya H; Imae R; Kobayashi K; Kanagawa M; Endo T
    J Biochem; 2024 Mar; 175(4):418-425. PubMed ID: 38140954
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy.
    van Tol W; van Scherpenzeel M; Alsady M; Riemersma M; Hermans E; Kragt E; Tasca G; Kamsteeg EJ; Pennings M; van Beusekom E; Vermeulen JR; van Bokhoven H; Voermans NC; Willemsen MA; Ashikov A; Lefeber DJ
    Clin Chem; 2019 Oct; 65(10):1295-1306. PubMed ID: 31375477
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy.
    Kanagawa M; Kobayashi K; Tajiri M; Manya H; Kuga A; Yamaguchi Y; Akasaka-Manya K; Furukawa JI; Mizuno M; Kawakami H; Shinohara Y; Wada Y; Endo T; Toda T
    Cell Rep; 2016 Mar; 14(9):2209-2223. PubMed ID: 26923585
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Characterization of site-specific O-glycan structures within the mucin-like domain of alpha-dystroglycan from human skeletal muscle.
    Nilsson J; Nilsson J; Larson G; Grahn A
    Glycobiology; 2010 Sep; 20(9):1160-9. PubMed ID: 20507882
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Protein O-mannosylation in metazoan organisms.
    Panin VM; Wells L
    Curr Protoc Protein Sci; 2014 Feb; 75():12.12.1-12.12.29. PubMed ID: 24510673
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 113(33):9280-5. PubMed ID: 27493216
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Crystal structures of β-1,4-N-acetylglucosaminyltransferase 2: structural basis for inherited muscular dystrophies.
    Yang JY; Halmo SM; Praissman J; Chapla D; Singh D; Wells L; Moremen KW; Lanzilotta WN
    Acta Crystallogr D Struct Biol; 2021 Apr; 77(Pt 4):486-495. PubMed ID: 33825709
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Aberrant glycosylation of alpha-dystroglycan and congenital muscular dystrophies.
    Endo T
    Acta Myol; 2005 Oct; 24(2):64-9. PubMed ID: 16550917
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.