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Journal Abstract Search

468 related items for PubMed ID: 15003450

  • 1. The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.
    Garman SC, Garboczi DN.
    J Mol Biol; 2004 Mar 19; 337(2):319-35. PubMed ID: 15003450
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  • 2. Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.
    Yasuda M, Shabbeer J, Benson SD, Maire I, Burnett RM, Desnick RJ.
    Hum Mutat; 2003 Dec 19; 22(6):486-92. PubMed ID: 14635108
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  • 3. [alpha-Galactosidase gene mutation and its expression product in Fabry disease (alpha-galactosidase deficiency)].
    Okumiya T, Takata T, Sasaki M, Sakuraba H.
    Rinsho Byori; 1997 Feb 19; 45(2):127-35. PubMed ID: 9120996
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  • 4. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.
    Ashton-Prolla P, Tong B, Shabbeer J, Astrin KH, Eng CM, Desnick RJ.
    J Investig Med; 2000 Jul 19; 48(4):227-35. PubMed ID: 10916280
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  • 7. A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted.
    Miyamura N, Araki E, Matsuda K, Yoshimura R, Furukawa N, Tsuruzoe K, Shirotani T, Kishikawa H, Yamaguchi K, Shichiri M.
    J Clin Invest; 1996 Oct 15; 98(8):1809-17. PubMed ID: 8878432
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  • 11. Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease.
    Okumiya T, Ishii S, Takenaka T, Kase R, Kamei S, Sakuraba H, Suzuki Y.
    Biochem Biophys Res Commun; 1995 Sep 25; 214(3):1219-24. PubMed ID: 7575533
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  • 12. Two novel alpha-galactosidase A mutations causing Fabry disease: A missense mutation M11V in a heterozygote woman and a nonsense mutation R190X in a hemizygote man.
    Celtikci B, Topçu M, Ozkara HA.
    Clin Biochem; 2011 Jul 25; 44(10-11):809-12. PubMed ID: 21569769
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  • 15. Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
    Eng CM, Desnick RJ.
    Hum Mutat; 1994 Jul 25; 3(2):103-11. PubMed ID: 7911050
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  • 17. [Molecular genetics of inherited metabolic diseases--its application to the investigation of pathogenesis and the diagnosis of Fabry disease].
    Sakuraba H.
    Rinsho Byori; 1994 Jun 25; 42(6):628-35. PubMed ID: 7914243
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  • 18. Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor.
    Fan JQ, Ishii S, Asano N, Suzuki Y.
    Nat Med; 1999 Jan 25; 5(1):112-5. PubMed ID: 9883849
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  • 19. Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online.
    Chen CH, Shyu PW, Wu SJ, Sheu SS, Desnick RJ, Hsiao KJ.
    Hum Mutat; 1998 Jan 25; 11(4):328-30. PubMed ID: 9554750
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  • 20. Crystal structure of alpha-galactosidase from Trichoderma reesei and its complex with galactose: implications for catalytic mechanism.
    Golubev AM, Nagem RA, Brandão Neto JR, Neustroev KN, Eneyskaya EV, Kulminskaya AA, Shabalin KA, Savel'ev AN, Polikarpov I.
    J Mol Biol; 2004 May 28; 339(2):413-22. PubMed ID: 15136043
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