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Journal Abstract Search

291 related items for PubMed ID: 17095274

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  • 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
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  • 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 Jun; 2(4):268-73. PubMed ID: 8401535
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  • 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
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  • 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
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  • 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 Dec; 11(3):209-15. PubMed ID: 9521422
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  • 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
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  • 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
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  • 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
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  • 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
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  • 16. Stabilising normal and mis-sense variant alpha-glucosidase.
    Kakavanos R, Hopwood JJ, Lang D, Meikle PJ, Brooks DA.
    FEBS Lett; 2006 Aug 07; 580(18):4365-70. PubMed ID: 16846599
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  • 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 07; 361(1-2):191-8. PubMed ID: 15993875
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