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Journal Abstract Search

220 related items for PubMed ID: 22033734

  • 1. Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB₁ alleles causing GM1-gangliosidosis and Morquio B disease.
    Fantur KM, Wrodnigg TM, Stütz AE, Pabst BM, Paschke E.
    J Inherit Metab Dis; 2012 May; 35(3):495-503. PubMed ID: 22033734
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  • 2. DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts.
    Fantur K, Hofer D, Schitter G, Steiner AJ, Pabst BM, Wrodnigg TM, Stütz AE, Paschke E.
    Mol Genet Metab; 2010 Jul; 100(3):262-8. PubMed ID: 20409738
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  • 4. The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis.
    Mohamed FE, Al Sorkhy M, Ghattas MA, Al-Gazali L, Al-Dirbashi O, Al-Jasmi F, Ali BR.
    Hum Genet; 2020 May; 139(5):657-673. PubMed ID: 32219518
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  • 5. GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
    Hofer D, Paul K, Fantur K, Beck M, Bürger F, Caillaud C, Fumic K, Ledvinova J, Lugowska A, Michelakakis H, Radeva B, Ramaswami U, Plecko B, Paschke E.
    Hum Mutat; 2009 Aug; 30(8):1214-21. PubMed ID: 19472408
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  • 6. Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.
    Hinek A, Zhang S, Smith AC, Callahan JW.
    Am J Hum Genet; 2000 Jul; 67(1):23-36. PubMed ID: 10841810
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  • 7. 4-epi-Isofagomine derivatives as pharmacological chaperones for the treatment of lysosomal diseases linked to β-galactosidase mutations: Improved synthesis and biological investigations.
    Front S, Almeida S, Zoete V, Charollais-Thoenig J, Gallienne E, Marmy C, Pilloud V, Marti R, Wood T, Martin OR, Demotz S.
    Bioorg Med Chem; 2018 Nov 01; 26(20):5462-5469. PubMed ID: 30270003
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  • 8. (5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B.
    Front S, Biela-Banaś A, Burda P, Ballhausen D, Higaki K, Caciotti A, Morrone A, Charollais-Thoenig J, Gallienne E, Demotz S, Martin OR.
    Eur J Med Chem; 2017 Jan 27; 126():160-170. PubMed ID: 27750150
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  • 9. Chaperone therapy update: Fabry disease, GM1-gangliosidosis and Gaucher disease.
    Suzuki Y.
    Brain Dev; 2013 Jun 27; 35(6):515-23. PubMed ID: 23290321
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  • 10. GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
    Caciotti A, Garman SC, Rivera-Colón Y, Procopio E, Catarzi S, Ferri L, Guido C, Martelli P, Parini R, Antuzzi D, Battini R, Sibilio M, Simonati A, Fontana E, Salviati A, Akinci G, Cereda C, Dionisi-Vici C, Deodato F, d'Amico A, d'Azzo A, Bertini E, Filocamo M, Scarpa M, di Rocco M, Tifft CJ, Ciani F, Gasperini S, Pasquini E, Guerrini R, Donati MA, Morrone A.
    Biochim Biophys Acta; 2011 Jul 27; 1812(7):782-90. PubMed ID: 21497194
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  • 11. Pharmacological Chaperones for β-Galactosidase Related to GM1 -Gangliosidosis and Morquio B: Recent Advances.
    Stütz AE, Thonhofer M, Weber P, Wolfsgruber A, Wrodnigg TM.
    Chem Rec; 2021 Nov 27; 21(11):2980-2989. PubMed ID: 34816592
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  • 12. Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.
    Santamaria R, Chabás A, Coll MJ, Miranda CS, Vilageliu L, Grinberg D.
    Hum Mutat; 2006 Oct 27; 27(10):1060. PubMed ID: 16941474
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  • 13. Enzyme replacement for GM1-gangliosidosis: Uptake, lysosomal activation, and cellular disease correction using a novel β-galactosidase:RTB lectin fusion.
    Condori J, Acosta W, Ayala J, Katta V, Flory A, Martin R, Radin J, Cramer CL, Radin DN.
    Mol Genet Metab; 2016 Feb 27; 117(2):199-209. PubMed ID: 26766614
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  • 17. Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients.
    Santamaria R, Chabás A, Callahan JW, Grinberg D, Vilageliu L.
    J Lipid Res; 2007 Oct 27; 48(10):2275-82. PubMed ID: 17664528
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  • 20. Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy.
    Rigat BA, Tropak MB, Buttner J, Crushell E, Benedict D, Callahan JW, Martin DR, Mahuran DJ.
    Mol Genet Metab; 2012 Sep 27; 107(1-2):203-12. PubMed ID: 22784478
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