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 *

137 related articles for article (PubMed ID: 11504597)

  • 1. 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; 23(5):284-7. PubMed ID: 11504597
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 429():71-80. PubMed ID: 27063389
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Imbalanced substrate specificity of mutant beta-galactosidase in patients with Morquio B disease.
    Okumiya T; Sakuraba H; Kase R; Sugiura T
    Mol Genet Metab; 2003 Jan; 78(1):51-8. PubMed ID: 12559848
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Intracellular processing and maturation of mutant gene products in hereditary beta-galactosidase deficiency (beta-galactosidosis).
    Oshima A; Yoshida K; Itoh K; Kase R; Sakuraba H; Suzuki Y
    Hum Genet; 1994 Feb; 93(2):109-14. PubMed ID: 8112731
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 21(3):526-32. PubMed ID: 23337983
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 289(21):14560-8. PubMed ID: 24737316
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 26(20):5462-5469. PubMed ID: 30270003
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis.
    Matsuda J; Suzuki O; Oshima A; Yamamoto Y; Noguchi A; Takimoto K; Itoh M; Matsuzaki Y; Yasuda Y; Ogawa S; Sakata Y; Nanba E; Higaki K; Ogawa Y; Tominaga L; Ohno K; Iwasaki H; Watanabe H; Brady RO; Suzuki Y
    Proc Natl Acad Sci U S A; 2003 Dec; 100(26):15912-7. PubMed ID: 14676316
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 1-Deoxy-D-galactonojirimycins with dansyl capped N-substituents as β-galactosidase inhibitors and potential probes for GM1 gangliosidosis affected cell lines.
    Fröhlich RF; Furneaux RH; Mahuran DJ; Saf R; Stütz AE; Tropak MB; Wicki J; Withers SG; Wrodnigg TM
    Carbohydr Res; 2011 Sep; 346(12):1592-8. PubMed ID: 21645885
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 32(7):843-52. PubMed ID: 21520340
    [TBL] [Abstract][Full Text] [Related]  

  • 13. (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; 126():160-170. PubMed ID: 27750150
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Beta-galactosidase deficiency: an approach to chaperone therapy.
    Suzuki Y
    J Inherit Metab Dis; 2006; 29(2-3):471-6. PubMed ID: 16763919
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular form and subcellular distribution of acid beta-galactosidase in fibroblasts from patients with GM1 gangliosidosis, Morquio B disease and galactosialidosis.
    Takiyama N; Itoh K; Shimmoto M; Nishimoto J; Inui K; Sakuraba H; Suzuki Y
    Brain Dev; 1997 Mar; 19(2):126-30. PubMed ID: 9105659
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 287(3):1801-12. PubMed ID: 22128166
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [beta-galactosidosis--GM1 gangliosidosis and Morquio B disease].
    Yoshida K; Yanagisawa N
    Nihon Rinsho; 1995 Dec; 53(12):2960-6. PubMed ID: 8577043
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient.
    Caciotti A; Donati MA; d'Azzo A; Salvioli R; Guerrini R; Zammarchi E; Morrone A
    Eur J Paediatr Neurol; 2009 Mar; 13(2):160-4. PubMed ID: 18571950
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 107(1-2):203-12. PubMed ID: 22784478
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 48(52):6514-6. PubMed ID: 22618082
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.