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 *

286 related articles for article (PubMed ID: 33513091)

  • 1. NAD+ enhances ribitol and ribose rescue of α-dystroglycan functional glycosylation in human FKRP-mutant myotubes.
    Ortiz-Cordero C; Magli A; Dhoke NR; Kuebler T; Selvaraj S; Oliveira NA; Zhou H; Sham YY; Bang AG; Perlingeiro RC
    Elife; 2021 Jan; 10():. PubMed ID: 33513091
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A universal gene correction approach for FKRP-associated dystroglycanopathies to enable autologous cell therapy.
    Dhoke NR; Kim H; Selvaraj S; Azzag K; Zhou H; Oliveira NAJ; Tungtur S; Ortiz-Cordero C; Kiley J; Lu QL; Bang AG; Perlingeiro RCR
    Cell Rep; 2021 Jul; 36(2):109360. PubMed ID: 34260922
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Defective autophagy and increased apoptosis contribute toward the pathogenesis of FKRP-associated muscular dystrophies.
    Ortiz-Cordero C; Bincoletto C; Dhoke NR; Selvaraj S; Magli A; Zhou H; Kim DH; Bang AG; Perlingeiro RCR
    Stem Cell Reports; 2021 Nov; 16(11):2752-2767. PubMed ID: 34653404
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Efficient engraftment of pluripotent stem cell-derived myogenic progenitors in a novel immunodeficient mouse model of limb girdle muscular dystrophy 2I.
    Azzag K; Ortiz-Cordero C; Oliveira NAJ; Magli A; Selvaraj S; Tungtur S; Upchurch W; Iaizzo PA; Lu QL; Perlingeiro RCR
    Skelet Muscle; 2020 Apr; 10(1):10. PubMed ID: 32321586
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Ribitol restores functionally glycosylated α-dystroglycan and improves muscle function in dystrophic FKRP-mutant mice.
    Cataldi MP; Lu P; Blaeser A; Lu QL
    Nat Commun; 2018 Aug; 9(1):3448. PubMed ID: 30150693
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Zebrafish models for human FKRP muscular dystrophies.
    Kawahara G; Guyon JR; Nakamura Y; Kunkel LM
    Hum Mol Genet; 2010 Feb; 19(4):623-33. PubMed ID: 19955119
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Autologous intramuscular transplantation of engineered satellite cells induces exosome-mediated systemic expression of Fukutin-related protein and rescues disease phenotype in a murine model of limb-girdle muscular dystrophy type 2I.
    Frattini P; Villa C; De Santis F; Meregalli M; Belicchi M; Erratico S; Bella P; Raimondi MT; Lu Q; Torrente Y
    Hum Mol Genet; 2017 Oct; 26(19):3682-3698. PubMed ID: 28666318
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Inhibitory machinery for the functional dystroglycan glycosylation.
    Kondo Y; Okajima T
    J Biochem; 2023 Apr; 173(5):333-335. PubMed ID: 36760122
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Improved efficacy of FKRP AAV gene therapy by combination with ribitol treatment for LGMD2I.
    Cataldi MP; Vannoy CH; Blaeser A; Tucker JD; Leroy V; Rawls R; Killilee J; Holbrook MC; Lu QL
    Mol Ther; 2023 Dec; 31(12):3478-3489. PubMed ID: 37919902
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.
    Chan YM; Keramaris-Vrantsis E; Lidov HG; Norton JH; Zinchenko N; Gruber HE; Thresher R; Blake DJ; Ashar J; Rosenfeld J; Lu QL
    Hum Mol Genet; 2010 Oct; 19(20):3995-4006. PubMed ID: 20675713
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP).
    Thornhill P; Bassett D; Lochmüller H; Bushby K; Straub V
    Brain; 2008 Jun; 131(Pt 6):1551-61. PubMed ID: 18477595
    [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. Adeno-associated virus-mediated overexpression of LARGE rescues α-dystroglycan function in dystrophic mice with mutations in the fukutin-related protein.
    Vannoy CH; Xu L; Keramaris E; Lu P; Xiao X; Lu QL
    Hum Gene Ther Methods; 2014 Jun; 25(3):187-96. PubMed ID: 24635668
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Prenatal muscle development in a mouse model for the secondary dystroglycanopathies.
    Kim J; Hopkinson M; Kavishwar M; Fernandez-Fuente M; Brown SC
    Skelet Muscle; 2016; 6():3. PubMed ID: 26900448
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Adeno-associated virus 9 mediated FKRP gene therapy restores functional glycosylation of α-dystroglycan and improves muscle functions.
    Xu L; Lu PJ; Wang CH; Keramaris E; Qiao C; Xiao B; Blake DJ; Xiao X; Lu QL
    Mol Ther; 2013 Oct; 21(10):1832-40. PubMed ID: 23817215
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Cell endogenous activities of fukutin and FKRP coexist with the ribitol xylosyltransferase, TMEM5.
    Nishihara R; Kobayashi K; Imae R; Tsumoto H; Manya H; Mizuno M; Kanagawa M; Endo T; Toda T
    Biochem Biophys Res Commun; 2018 Mar; 497(4):1025-1030. PubMed ID: 29477842
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Fukutin-Related Protein: From Pathology to Treatments.
    Ortiz-Cordero C; Azzag K; Perlingeiro RCR
    Trends Cell Biol; 2021 Mar; 31(3):197-210. PubMed ID: 33272829
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Restoration of Functional Glycosylation of α-Dystroglycan in FKRP Mutant Mice Is Associated with Muscle Regeneration.
    Awano H; Blaeser A; Keramaris E; Xu L; Tucker J; Wu B; Lu P; Lu QL
    Am J Pathol; 2015 Jul; 185(7):2025-37. PubMed ID: 25976249
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.