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369 related items for PubMed ID: 19959526

  • 1. Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.
    Douillard-Guilloux G, Raben N, Takikita S, Ferry A, Vignaud A, Guillet-Deniau I, Favier M, Thurberg BL, Roach PJ, Caillaud C, Richard E.
    Hum Mol Genet; 2010 Feb 15; 19(4):684-96. PubMed ID: 19959526
    [Abstract] [Full Text] [Related]

  • 2. Small molecule inhibition of glycogen synthase I reduces muscle glycogen content and improves biomarkers in a mouse model of Pompe disease.
    Gaspar RC, Sakuma I, Nasiri A, Hubbard BT, LaMoia TE, Leitner BP, Tep S, Xi Y, Green EM, Ullman JC, Petersen KF, Shulman GI.
    Am J Physiol Endocrinol Metab; 2024 Oct 01; 327(4):E524-E532. PubMed ID: 39171753
    [Abstract] [Full Text] [Related]

  • 3. Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II.
    Douillard-Guilloux G, Raben N, Takikita S, Batista L, Caillaud C, Richard E.
    Hum Mol Genet; 2008 Dec 15; 17(24):3876-86. PubMed ID: 18782850
    [Abstract] [Full Text] [Related]

  • 4. Partial phenotypic correction and immune tolerance induction to enzyme replacement therapy after hematopoietic stem cell gene transfer of alpha-glucosidase in Pompe disease.
    Douillard-Guilloux G, Richard E, Batista L, Caillaud C.
    J Gene Med; 2009 Apr 15; 11(4):279-87. PubMed ID: 19263466
    [Abstract] [Full Text] [Related]

  • 5. Correction of glycogenosis type 2 by muscle-specific lentiviral vector.
    Richard E, Douillard-Guilloux G, Batista L, Caillaud C.
    In Vitro Cell Dev Biol Anim; 2008 Apr 15; 44(10):397-406. PubMed ID: 18810562
    [Abstract] [Full Text] [Related]

  • 6. Rescue of Advanced Pompe Disease in Mice with Hepatic Expression of Secretable Acid α-Glucosidase.
    Cagin U, Puzzo F, Gomez MJ, Moya-Nilges M, Sellier P, Abad C, Van Wittenberghe L, Daniele N, Guerchet N, Gjata B, Collaud F, Charles S, Sola MS, Boyer O, Krijnse-Locker J, Ronzitti G, Colella P, Mingozzi F.
    Mol Ther; 2020 Sep 02; 28(9):2056-2072. PubMed ID: 32526204
    [Abstract] [Full Text] [Related]

  • 7. Improved efficacy of gene therapy approaches for Pompe disease using a new, immune-deficient GSD-II mouse model.
    Xu F, Ding E, Liao SX, Migone F, Dai J, Schneider A, Serra D, Chen YT, Amalfitano A.
    Gene Ther; 2004 Nov 02; 11(21):1590-8. PubMed ID: 15356673
    [Abstract] [Full Text] [Related]

  • 8. Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle.
    Koeberl DD, Luo X, Sun B, McVie-Wylie A, Dai J, Li S, Banugaria SG, Chen YT, Bali DS.
    Mol Genet Metab; 2011 Jun 02; 103(2):107-12. PubMed ID: 21397538
    [Abstract] [Full Text] [Related]

  • 9. Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease.
    Bijvoet AG, van de Kamp EH, Kroos MA, Ding JH, Yang BZ, Visser P, Bakker CE, Verbeet MP, Oostra BA, Reuser AJ, van der Ploeg AT.
    Hum Mol Genet; 1998 Jan 02; 7(1):53-62. PubMed ID: 9384603
    [Abstract] [Full Text] [Related]

  • 10. Lentiviral gene therapy with IGF2-tagged GAA normalizes the skeletal muscle proteome in murine Pompe disease.
    Liang Q, Vlaar EC, Pijnenburg JM, Rijkers E, Demmers JAA, Vulto AG, van der Ploeg AT, van Til NP, Pijnappel WWMP.
    J Proteomics; 2024 Jan 16; 291():105037. PubMed ID: 38288553
    [Abstract] [Full Text] [Related]

  • 11. Gene therapy with secreted acid alpha-glucosidase rescues Pompe disease in a novel mouse model with early-onset spinal cord and respiratory defects.
    Colella P, Sellier P, Gomez MJ, Biferi MG, Tanniou G, Guerchet N, Cohen-Tannoudji M, Moya-Nilges M, van Wittenberghe L, Daniele N, Gjata B, Krijnse-Locker J, Collaud F, Simon-Sola M, Charles S, Cagin U, Mingozzi F.
    EBioMedicine; 2020 Nov 16; 61():103052. PubMed ID: 33039711
    [Abstract] [Full Text] [Related]

  • 12. Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.
    Raben N, Fukuda T, Gilbert AL, de Jong D, Thurberg BL, Mattaliano RJ, Meikle P, Hopwood JJ, Nagashima K, Nagaraju K, Plotz PH.
    Mol Ther; 2005 Jan 16; 11(1):48-56. PubMed ID: 15585405
    [Abstract] [Full Text] [Related]

  • 13. Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism.
    Canibano-Fraile R, Harlaar L, Dos Santos CA, Hoogeveen-Westerveld M, Demmers JAA, Snijders T, Lijnzaad P, Verdijk RM, van der Beek NAME, van Doorn PA, van der Ploeg AT, Brusse E, Pijnappel WWMP, Schaaf GJ.
    J Inherit Metab Dis; 2023 Jan 16; 46(1):101-115. PubMed ID: 36111639
    [Abstract] [Full Text] [Related]

  • 14. Antibody formation and mannose-6-phosphate receptor expression impact the efficacy of muscle-specific transgene expression in murine Pompe disease.
    Sun B, Li S, Bird A, Yi H, Kemper A, Thurberg BL, Koeberl DD.
    J Gene Med; 2010 Nov 16; 12(11):881-91. PubMed ID: 20967919
    [Abstract] [Full Text] [Related]

  • 15. Airway smooth muscle dysfunction in Pompe (Gaa-/- ) mice.
    Keeler AM, Liu D, Zieger M, Xiong L, Salemi J, Bellvé K, Byrne BJ, Fuller DD, ZhuGe R, ElMallah MK.
    Am J Physiol Lung Cell Mol Physiol; 2017 Jun 01; 312(6):L873-L881. PubMed ID: 28336814
    [Abstract] [Full Text] [Related]

  • 16. Suppression of mTORC1 activation in acid-α-glucosidase-deficient cells and mice is ameliorated by leucine supplementation.
    Shemesh A, Wang Y, Yang Y, Yang GS, Johnson DE, Backer JM, Pessin JE, Zong H.
    Am J Physiol Regul Integr Comp Physiol; 2014 Nov 15; 307(10):R1251-9. PubMed ID: 25231351
    [Abstract] [Full Text] [Related]

  • 17. Adjunctive β2-agonist treatment reduces glycogen independently of receptor-mediated acid α-glucosidase uptake in the limb muscles of mice with Pompe disease.
    Farah BL, Madden L, Li S, Nance S, Bird A, Bursac N, Yen PM, Young SP, Koeberl DD.
    FASEB J; 2014 May 15; 28(5):2272-80. PubMed ID: 24448824
    [Abstract] [Full Text] [Related]

  • 18. Systemic Delivery of AAVB1-GAA Clears Glycogen and Prolongs Survival in a Mouse Model of Pompe Disease.
    Keeler AM, Zieger M, Todeasa SH, McCall AL, Gifford JC, Birsak S, Choudhury SR, Byrne BJ, Sena-Esteves M, ElMallah MK.
    Hum Gene Ther; 2019 Jan 15; 30(1):57-68. PubMed ID: 29901418
    [Abstract] [Full Text] [Related]

  • 19. Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches.
    Takikita S, Myerowitz R, Zaal K, Raben N, Plotz PH.
    Mol Genet Metab; 2009 Apr 15; 96(4):208-17. PubMed ID: 19167256
    [Abstract] [Full Text] [Related]

  • 20. CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease.
    Kan SH, Huang JY, Harb J, Rha A, Dalton ND, Christensen C, Chan Y, Davis-Turak J, Neumann J, Wang RY.
    Sci Rep; 2022 Dec 14; 12(1):21576. PubMed ID: 36517654
    [Abstract] [Full Text] [Related]

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