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Journal Abstract Search

235 related items for PubMed ID: 2295698

  • 21. Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene.
    Tayebi N, Cushner SR, Kleijer W, Lau EK, Damschroder-Williams PJ, Stubblefield BK, Den Hollander J, Sidransky E.
    Am J Med Genet; 1997 Nov 28; 73(1):41-7. PubMed ID: 9375921
    [Abstract] [Full Text] [Related]

  • 22. Complex alleles of the acid beta-glucosidase gene in Gaucher disease.
    Latham T, Grabowski GA, Theophilus BD, Smith FI.
    Am J Hum Genet; 1990 Jul 28; 47(1):79-86. PubMed ID: 2349952
    [Abstract] [Full Text] [Related]

  • 23. Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease.
    Serra-Vinardell J, Díaz L, Gutiérrez-de Terán H, Sánchez-Ollé G, Bujons J, Michelakakis H, Mavridou I, Aerts JM, Delgado A, Grinberg D, Vilageliu L, Casas J.
    Int J Biochem Cell Biol; 2014 Sep 28; 54():245-54. PubMed ID: 25084554
    [Abstract] [Full Text] [Related]

  • 24.
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  • 25. Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).
    Brown JT, Lahey C, Laosinchai-Wolf W, Hadd AG.
    BMC Med Genet; 2006 Aug 03; 7():69. PubMed ID: 16887033
    [Abstract] [Full Text] [Related]

  • 26. Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease.
    Ginns EI, Choudary PV, Tsuji S, Martin B, Stubblefield B, Sawyer J, Hozier J, Barranger JA.
    Proc Natl Acad Sci U S A; 1985 Oct 03; 82(20):7101-5. PubMed ID: 3863141
    [Abstract] [Full Text] [Related]

  • 27. Gene rearranagement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene.
    Tayebi N, Park J, Madike V, Sidransky E.
    Hum Genet; 2000 Oct 03; 107(4):400-3. PubMed ID: 11129343
    [Abstract] [Full Text] [Related]

  • 28. Use of denaturing gradient gel electrophoresis to identify mutant sequences in the beta-glucocerebrosidase gene.
    Laubscher KH, Glew RH, Lee RE, Okinaka RT.
    Hum Mutat; 1994 Oct 03; 3(4):411-5. PubMed ID: 8081401
    [No Abstract] [Full Text] [Related]

  • 29. Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene.
    Dahl N, Lagerström M, Erikson A, Pettersson U.
    Am J Hum Genet; 1990 Aug 03; 47(2):275-8. PubMed ID: 2378352
    [Abstract] [Full Text] [Related]

  • 30. The human glucocerebrosidase gene has two functional ATG initiator codons.
    Sorge JA, West C, Kuhl W, Treger L, Beutler E.
    Am J Hum Genet; 1987 Dec 03; 41(6):1016-24. PubMed ID: 3687939
    [Abstract] [Full Text] [Related]

  • 31. Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state.
    Beutler E, Gelbart T, Kuhl W, Sorge J, West C.
    Proc Natl Acad Sci U S A; 1991 Dec 01; 88(23):10544-7. PubMed ID: 1961718
    [Abstract] [Full Text] [Related]

  • 32. Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus.
    Reissner K, Tayebi N, Stubblefield BK, Koprivica V, Blitzer M, Holleran W, Cowan T, Almashanu S, Maddalena A, Karson EM, Sidransky E.
    Mol Genet Metab; 1998 Apr 01; 63(4):281-8. PubMed ID: 9635296
    [Abstract] [Full Text] [Related]

  • 33. Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease.
    Filocamo M, Grossi S, Stroppiano M, Tortori-Donati P, Regis S, Allegri A, Di Rocco M.
    Am J Med Genet A; 2005 Apr 01; 134A(1):95-6. PubMed ID: 15690354
    [No Abstract] [Full Text] [Related]

  • 34. Complete correction of the enzymatic defect of type I Gaucher disease fibroblasts by retroviral-mediated gene transfer.
    Sorge J, Kuhl W, West C, Beutler E.
    Proc Natl Acad Sci U S A; 1987 Feb 01; 84(4):906-9. PubMed ID: 3547401
    [Abstract] [Full Text] [Related]

  • 35. Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells.
    Siebert M, Westbroek W, Chen YC, Moaven N, Li Y, Velayati A, Saraiva-Pereira ML, Martin SE, Sidransky E.
    RNA Biol; 2014 Feb 01; 11(10):1291-300. PubMed ID: 25584808
    [Abstract] [Full Text] [Related]

  • 36. Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients.
    Chang HH, Asano N, Ishii S, Ichikawa Y, Fan JQ.
    FEBS J; 2006 Sep 01; 273(17):4082-92. PubMed ID: 16934036
    [Abstract] [Full Text] [Related]

  • 37. Correction of glucocerebrosidase deficiency after retroviral-mediated gene transfer into hematopoietic progenitor cells from patients with Gaucher disease.
    Fink JK, Correll PH, Perry LK, Brady RO, Karlsson S.
    Proc Natl Acad Sci U S A; 1990 Mar 01; 87(6):2334-8. PubMed ID: 2315324
    [Abstract] [Full Text] [Related]

  • 38. Immunological and catalytic quantitation of splenic glucocerebrosidase from the three clinical forms of Gaucher disease.
    Pentchev PG, Neumeyer B, Svennerholm L, Groth CG, Brady RO.
    Am J Hum Genet; 1983 Jul 01; 35(4):621-8. PubMed ID: 6881138
    [Abstract] [Full Text] [Related]

  • 39. Analyses of catalytic activity and inhibitor binding of human acid beta-glucosidase by site-directed mutagenesis. Identification of residues critical to catalysis and evidence for causality of two Ashkenazi Jewish Gaucher disease type 1 mutations.
    Grace ME, Graves PN, Smith FI, Grabowski GA.
    J Biol Chem; 1990 Apr 25; 265(12):6827-35. PubMed ID: 2324100
    [Abstract] [Full Text] [Related]

  • 40. [Molecular genetic approaches to neurologic diseases].
    Tsuji S.
    Rinsho Shinkeigaku; 1989 Dec 25; 29(12):1550-3. PubMed ID: 2698300
    [Abstract] [Full Text] [Related]

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