BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

152 related articles for article (PubMed ID: 6881138)

  • 1. 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; 35(4):621-8. PubMed ID: 6881138
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Comparative study on glucocerebrosidase in spleens from patients with Gaucher disease.
    Aerts JM; Donker-Koopman WE; Brul S; Van Weely S; Sa Miranda MC; Barranger JA; Tager JM; Schram AW
    Biochem J; 1990 Jul; 269(1):93-100. PubMed ID: 2198026
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Gaucher disease: isolation and comparison of normal and mutant glucocerebrosidase from human spleen tissue.
    Pentchev PG; Brady RO; Blair HE; Britton DE; Sorrell SH
    Proc Natl Acad Sci U S A; 1978 Aug; 75(8):3970-3. PubMed ID: 29293
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Retrovirus-mediated transfer of the human glucocerebrosidase gene to Gaucher fibroblasts.
    Choudary PV; Barranger JA; Tsuji S; Mayor J; LaMarca ME; Cepko CL; Mulligan RC; Ginns EI
    Mol Biol Med; 1986 Jun; 3(3):293-9. PubMed ID: 3736391
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Cross-reacting material in Gaucher disease fibroblasts.
    Beutler E; Kuhl W; Sorge J
    Proc Natl Acad Sci U S A; 1984 Oct; 81(20):6506-10. PubMed ID: 6593712
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease.
    Ginns EI; Brady RO; Pirruccello S; Moore C; Sorrell S; Furbish FS; Murray GJ; Tager J; Barranger JA
    Proc Natl Acad Sci U S A; 1982 Sep; 79(18):5607-10. PubMed ID: 6957882
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 265(12):6827-35. PubMed ID: 2324100
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 47(2):275-8. PubMed ID: 2378352
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Conditions affecting the activity of glucocerebrosidase purified from spleens of control subjects and patients with type 1 Gaucher disease.
    Aerts JM; Sa Miranda MC; Brouwer-Kelder EM; Van Weely S; Barranger JA; Tager JM
    Biochim Biophys Acta; 1990 Oct; 1041(1):55-63. PubMed ID: 2223847
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Glucocerebrosidase "processing" and gene expression in various forms of Gaucher disease.
    Beutler E; Kuhl W; Sorge J
    Am J Hum Genet; 1985 Nov; 37(6):1062-70. PubMed ID: 4083278
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals.
    Tsuji S; Martin BM; Barranger JA; Stubblefield BK; LaMarca ME; Ginns EI
    Proc Natl Acad Sci U S A; 1988 Apr; 85(7):2349-52. PubMed ID: 3353383
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder.
    Zimran A; Sorge J; Gross E; Kubitz M; West C; Beutler E
    J Clin Invest; 1990 Jan; 85(1):219-22. PubMed ID: 2295698
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts.
    Jonsson LM; Murray GJ; Sorrell SH; Strijland A; Aerts JF; Ginns EI; Barranger JA; Tager JM; Schram AW
    Eur J Biochem; 1987 Apr; 164(1):171-9. PubMed ID: 3549301
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells.
    Choy FY; Wei C; Levin D
    Am J Med Genet; 1996 Oct; 65(3):184-9. PubMed ID: 9240741
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 82(20):7101-5. PubMed ID: 3863141
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts.
    Van Weely S; Van Leeuwen MB; Jansen ID; De Bruijn MA; Brouwer-Kelder EM; Schram AW; Sa Miranda MC; Barranger JA; Petersen EM; Goldblatt J
    Biochim Biophys Acta; 1991 Jun; 1096(4):301-11. PubMed ID: 1829642
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 41(6):1016-24. PubMed ID: 3687939
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Isolation of heat-stable glucocerebrosidase activators from the spleens of three variants of Gaucher's disease.
    Peters SP; Coffee CJ; Glew RH; Lee RE; Wenger DA; Li SC; Li YT
    Arch Biochem Biophys; 1977 Sep; 183(1):290-7. PubMed ID: 907355
    [No Abstract]   [Full Text] [Related]  

  • 19. Glucocerebrosidase (Gaucher disease).
    Beutler E; Gelbart T
    Hum Mutat; 1996; 8(3):207-13. PubMed ID: 8889578
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Gaucher disease: the effects of phosphatidylserine on glucocerebrosidase from normal and Gaucher fibroblasts.
    Choy FY
    Hum Genet; 1984; 67(4):432-6. PubMed ID: 6436168
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.