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191 related items for PubMed ID: 24737316
1. Structural basis of pharmacological chaperoning for human β-galactosidase. Suzuki H, Ohto U, Higaki K, Mena-Barragán T, Aguilar-Moncayo M, Ortiz Mellet C, Nanba E, Garcia Fernandez JM, Suzuki Y, Shimizu T. J Biol Chem; 2014 May 23; 289(21):14560-8. PubMed ID: 24737316 [Abstract] [Full Text] [Related]
2. A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis. Takai T, Higaki K, Aguilar-Moncayo M, Mena-Barragán T, Hirano Y, Yura K, Yu L, Ninomiya H, García-Moreno MI, Sakakibara Y, Ohno K, Nanba E, Ortiz Mellet C, García Fernández JM, Suzuki Y. Mol Ther; 2013 Mar 23; 21(3):526-32. PubMed ID: 23337983 [Abstract] [Full Text] [Related]
3. Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases. Ohto U, Usui K, Ochi T, Yuki K, Satow Y, Shimizu T. J Biol Chem; 2012 Jan 13; 287(3):1801-12. PubMed ID: 22128166 [Abstract] [Full Text] [Related]
4. 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 13; 100(3):262-8. PubMed ID: 20409738 [Abstract] [Full Text] [Related]
5. (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 [Abstract] [Full Text] [Related]
6. Candidate molecules for chemical chaperone therapy of GM1-gangliosidosis. Higaki K, Ninomiya H, Suzuki Y, Nanba E. Future Med Chem; 2013 Sep 27; 5(13):1551-8. PubMed ID: 24024947 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
8. Tuning glycosidase inhibition through aglycone interactions: pharmacological chaperones for Fabry disease and GM1 gangliosidosis. Aguilar-Moncayo M, Takai T, Higaki K, Mena-Barragán T, Hirano Y, Yura K, Li L, Yu Y, Ninomiya H, García-Moreno MI, Ishii S, Sakakibara Y, Ohno K, Nanba E, Ortiz Mellet C, García Fernández JM, Suzuki Y. Chem Commun (Camb); 2012 Jul 04; 48(52):6514-6. PubMed ID: 22618082 [Abstract] [Full Text] [Related]
9. 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 04; 67(1):23-36. PubMed ID: 10841810 [Abstract] [Full Text] [Related]
10. 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 04; 139(5):657-673. PubMed ID: 32219518 [Abstract] [Full Text] [Related]
11. Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. Higaki K, Li L, Bahrudin U, Okuzawa S, Takamuram A, Yamamoto K, Adachi K, Paraguison RC, Takai T, Ikehata H, Tominaga L, Hisatome I, Iida M, Ogawa S, Matsuda J, Ninomiya H, Sakakibara Y, Ohno K, Suzuki Y, Nanba E. Hum Mutat; 2011 Jul 04; 32(7):843-52. PubMed ID: 21520340 [Abstract] [Full Text] [Related]
12. Synthesis of C-5a-substituted derivatives of 4-epi-isofagomine: notable β-galactosidase inhibitors and activity promotors of GM1-gangliosidosis related human lysosomal β-galactosidase mutant R201C. Thonhofer M, Weber P, Gonzalez Santana A, Tysoe C, Fischer R, Pabst BM, Paschke E, Schalli M, Stütz AE, Tschernutter M, Windischhofer W, Withers SG. Carbohydr Res; 2016 Jun 24; 429():71-80. PubMed ID: 27063389 [Abstract] [Full Text] [Related]
13. 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 24; 35(3):495-503. PubMed ID: 22033734 [Abstract] [Full Text] [Related]
14. Galactonojirimycin derivatives restore mutant human beta-galactosidase activities expressed in fibroblasts from enzyme-deficient knockout mouse. Tominaga L, Ogawa Y, Taniguchi M, Ohno K, Matsuda J, Oshima A, Suzuki Y, Nanba E. Brain Dev; 2001 Aug 24; 23(5):284-7. PubMed ID: 11504597 [Abstract] [Full Text] [Related]
15. [Structural basis for β-galactosidase associated with lysosomal disease]. Shimizu T. Yakugaku Zasshi; 2013 Aug 24; 133(5):509-17. PubMed ID: 23649392 [Abstract] [Full Text] [Related]
16. N-Substituted 5-amino-1-hydroxymethyl-cyclopentanetriols: A new family of activity promotors for a GM1-gangliosidosis related human lysosomal β-galactosidase mutant. Schalli M, Tysoe C, Fischer R, Pabst BM, Thonhofer M, Paschke E, Rappitsch T, Stütz AE, Tschernutter M, Windischhofer W, Withers SG. Carbohydr Res; 2017 Apr 18; 443-444():15-22. PubMed ID: 28319682 [Abstract] [Full Text] [Related]
17. Structural bases of GM1 gangliosidosis and Morquio B disease. Morita M, Saito S, Ikeda K, Ohno K, Sugawara K, Suzuki T, Togawa T, Sakuraba H. J Hum Genet; 2009 Sep 18; 54(9):510-5. PubMed ID: 19644515 [Abstract] [Full Text] [Related]
18. Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein. Callahan JW. Biochim Biophys Acta; 1999 Oct 08; 1455(2-3):85-103. PubMed ID: 10571006 [Abstract] [Full Text] [Related]
19. 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 08; 117(2):199-209. PubMed ID: 26766614 [Abstract] [Full Text] [Related]
20. 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 08; 30(8):1214-21. PubMed ID: 19472408 [Abstract] [Full Text] [Related] Page: [Next] [New Search]