BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

295 related articles for article (PubMed ID: 17095274)

  • 1. Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II.
    Okumiya T; Kroos MA; Vliet LV; Takeuchi H; Van der Ploeg AT; Reuser AJ
    Mol Genet Metab; 2007 Jan; 90(1):49-57. PubMed ID: 17095274
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe disease.
    Khanna R; Powe AC; Lun Y; Soska R; Feng J; Dhulipala R; Frascella M; Garcia A; Pellegrino LJ; Xu S; Brignol N; Toth MJ; Do HV; Lockhart DJ; Wustman BA; Valenzano KJ
    PLoS One; 2014; 9(7):e102092. PubMed ID: 25036864
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones.
    Tajima Y; Saito S; Ohno K; Tsukimura T; Tsujino S; Sakuraba H
    J Hum Genet; 2011 Jun; 56(6):440-6. PubMed ID: 21471980
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected with several Gaucher disease mutations.
    Alfonso P; Pampín S; Estrada J; Rodríguez-Rey JC; Giraldo P; Sancho J; Pocoví M
    Blood Cells Mol Dis; 2005; 35(2):268-76. PubMed ID: 16039881
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II.
    Hermans MM; Kroos MA; de Graaff E; Oostra BA; Reuser AJ
    Hum Mutat; 1993; 2(4):268-73. PubMed ID: 8401535
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.
    Flanagan JJ; Rossi B; Tang K; Wu X; Mascioli K; Donaudy F; Tuzzi MR; Fontana F; Cubellis MV; Porto C; Benjamin E; Lockhart DJ; Valenzano KJ; Andria G; Parenti G; Do HV
    Hum Mutat; 2009 Dec; 30(12):1683-92. PubMed ID: 19862843
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Endoplasmic reticulum stress induces autophagy through activation of p38 MAPK in fibroblasts from Pompe disease patients carrying c.546G>T mutation.
    Shimada Y; Kobayashi H; Kawagoe S; Aoki K; Kaneshiro E; Shimizu H; Eto Y; Ida H; Ohashi T
    Mol Genet Metab; 2011 Dec; 104(4):566-73. PubMed ID: 21982629
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.
    Hermans MM; Kroos MA; Smeitink JA; van der Ploeg AT; Kleijer WJ; Reuser AJ
    Hum Mutat; 1998; 11(3):209-15. PubMed ID: 9521422
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Promising results of the chaperone effect caused by imino sugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease.
    Sánchez-Ollé G; Duque J; Egido-Gabás M; Casas J; Lluch M; Chabás A; Grinberg D; Vilageliu L
    Blood Cells Mol Dis; 2009; 42(2):159-66. PubMed ID: 19167250
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.
    Montalvo AL; Cariati R; Deganuto M; Guerci V; Garcia R; Ciana G; Bembi B; Pittis MG
    Mol Genet Metab; 2004 Mar; 81(3):203-8. PubMed ID: 14972326
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
    Hermans MM; van Leenen D; Kroos MA; Beesley CE; Van Der Ploeg AT; Sakuraba H; Wevers R; Kleijer W; Michelakakis H; Kirk EP; Fletcher J; Bosshard N; Basel-Vanagaite L; Besley G; Reuser AJ
    Hum Mutat; 2004 Jan; 23(1):47-56. PubMed ID: 14695532
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Alpha-1-C-octyl-1-deoxynojirimycin as a pharmacological chaperone for Gaucher disease.
    Yu L; Ikeda K; Kato A; Adachi I; Godin G; Compain P; Martin O; Asano N
    Bioorg Med Chem; 2006 Dec; 14(23):7736-44. PubMed ID: 16919960
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Binding parameters and thermodynamics of the interaction of imino sugars with a recombinant human acid alpha-glucosidase (alglucosidase alfa): insight into the complex formation mechanism.
    Yoshimizu M; Tajima Y; Matsuzawa F; Aikawa S; Iwamoto K; Kobayashi T; Edmunds T; Fujishima K; Tsuji D; Itoh K; Ikekita M; Kawashima I; Sugawara K; Ohyanagi N; Suzuki T; Togawa T; Ohno K; Sakuraba H
    Clin Chim Acta; 2008 May; 391(1-2):68-73. PubMed ID: 18328816
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease.
    Sugawara K; Saito S; Sekijima M; Ohno K; Tajima Y; Kroos MA; Reuser AJ; Sakuraba H
    J Hum Genet; 2009 Jun; 54(6):324-30. PubMed ID: 19343043
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.
    Reuser AJ; Kroos M; Willemsen R; Swallow D; Tager JM; Galjaard H
    J Clin Invest; 1987 Jun; 79(6):1689-99. PubMed ID: 3108320
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Stabilising normal and mis-sense variant alpha-glucosidase.
    Kakavanos R; Hopwood JJ; Lang D; Meikle PJ; Brooks DA
    FEBS Lett; 2006 Aug; 580(18):4365-70. PubMed ID: 16846599
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
    Kroos M; Pomponio RJ; van Vliet L; Palmer RE; Phipps M; Van der Helm R; Halley D; Reuser A;
    Hum Mutat; 2008 Jun; 29(6):E13-26. PubMed ID: 18425781
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 11(1):48-56. PubMed ID: 15585405
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Correlation of acid alpha-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease.
    Umapathysivam K; Hopwood JJ; Meikle PJ
    Clin Chim Acta; 2005 Nov; 361(1-2):191-8. PubMed ID: 15993875
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Correction of glycogen storage disease type II by enzyme replacement with a recombinant human acid maltase produced by over-expression in a CHO-DHFR(neg) cell line.
    Martiniuk F; Chen A; Donnabella V; Arvanitopoulos E; Slonim AE; Raben N; Plotz P; Rom WN
    Biochem Biophys Res Commun; 2000 Oct; 276(3):917-23. PubMed ID: 11027569
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.