BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

166 related articles for article (PubMed ID: 14556188)

  • 1. [Preclinical research of a new therapy for Gaucher's disease with F213I mutation].
    Hou L; Kousaku O
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Oct; 20(5):381-4. PubMed ID: 14556188
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Intracellular transport of acid beta-glucosidase and lysosome-associated membrane proteins is affected in Gaucher's disease (G202R mutation).
    Zimmer KP; le Coutre P; Aerts HM; Harzer K; Fukuda M; O'Brien JS; Naim HY
    J Pathol; 1999 Aug; 188(4):407-14. PubMed ID: 10440752
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Gaucher's disease.
    Patel AL; Shaikh WA; Khobragade AK; Soni HG; Joshi AS; Sahasrabudhe GS; Chole PV
    J Assoc Physicians India; 2009 May; 57():410-1. PubMed ID: 19634291
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Production of glucocerebrosidase with terminal mannose glycans for enzyme replacement therapy of Gaucher's disease using a plant cell system.
    Shaaltiel Y; Bartfeld D; Hashmueli S; Baum G; Brill-Almon E; Galili G; Dym O; Boldin-Adamsky SA; Silman I; Sussman JL; Futerman AH; Aviezer D
    Plant Biotechnol J; 2007 Sep; 5(5):579-90. PubMed ID: 17524049
    [TBL] [Abstract][Full Text] [Related]  

  • 5. An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions - relevance for Gaucher disease.
    Atrian S; López-Viñas E; Gómez-Puertas P; Chabás A; Vilageliu L; Grinberg D
    Proteins; 2008 Feb; 70(3):882-91. PubMed ID: 17803231
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Molecular basis of treatment in Gaucher's disease].
    Pocoví M
    Med Clin (Barc); 2011 Sep; 137 Suppl 1():32-8. PubMed ID: 22230123
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Animal and cellular models of Gaucher's disease. I. Refractoriness of thio analogs of glucocerebroside to enzymatic hydrolysis.
    Quirk JM; Weis AL; Shapiro D; Brady RO
    Biotechnol Appl Biochem; 1986 Feb; 8(1):96-100. PubMed ID: 3828086
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Comparison of rates of hydrolysis of N-oleoyl and N-stearoyl glucocerebroside in patients with Gaucher's disease.
    Peters SP; Aquino L; Naccarato WF; Gilbertson JR; Diven WF; Glew RH
    Biochim Biophys Acta; 1979 Oct; 575(1):27-36. PubMed ID: 508779
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 2,3-di-O-tetradecyl-1-O-(beta-D-glucopyranosyl)-sn-glycerol is a substrate for human glucocerebrosidase.
    Glew RH; Gopalan V; Hubbell CA; Devraj RV; Lawson RA; Diven WF; Mannock DA
    Biochem J; 1991 Mar; 274 ( Pt 2)(Pt 2):557-63. PubMed ID: 1900989
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Gaucher disease: accurate identification of asymptomatic French-Canadian carrier using nonlabeled authentic sphingolipid substrate N-palmitoyl dihydroglucocerebroside.
    Choy FY; Bouillon L; Laurin CA
    Am J Med Genet; 1987 Aug; 27(4):895-905. PubMed ID: 3425599
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Type I Gaucher's disease with homozygous R463C mutation without neurological involvement.
    Bolaman Z; Kadikoylu G; Levi E; Barutca S; Temucin K
    Haematologia (Budap); 2002; 32(4):487-93. PubMed ID: 12803123
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Minos-insertion mutant of the Drosophila GBA gene homologue showed abnormal phenotypes of climbing ability, sleep and life span with accumulation of hydroxy-glucocerebroside.
    Kawasaki H; Suzuki T; Ito K; Takahara T; Goto-Inoue N; Setou M; Sakata K; Ishida N
    Gene; 2017 May; 614():49-55. PubMed ID: 28286087
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 273(17):4082-92. PubMed ID: 16934036
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Glucocerebrosidase deficiency--Gaucher's disease].
    Tsuji S
    Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):728-33. PubMed ID: 2908399
    [No Abstract]   [Full Text] [Related]  

  • 15. [Gaucher's disease and enzyme replacement therapy].
    Cornu F
    Ann Pharm Fr; 1998; 56(3):102-7. PubMed ID: 9770016
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Gaucher disease.
    Butters TD
    Curr Opin Chem Biol; 2007 Aug; 11(4):412-8. PubMed ID: 17644022
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease.
    van Weely S; van den Berg M; Barranger JA; Sa Miranda MC; Tager JM; Aerts JM
    J Clin Invest; 1993 Mar; 91(3):1167-75. PubMed ID: 8450045
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease.
    Schmitz M; Alfalah M; Aerts JM; Naim HY; Zimmer KP
    Int J Biochem Cell Biol; 2005 Nov; 37(11):2310-20. PubMed ID: 15982918
    [TBL] [Abstract][Full Text] [Related]  

  • 19. ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity.
    Ron I; Horowitz M
    Hum Mol Genet; 2005 Aug; 14(16):2387-98. PubMed ID: 16000318
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Isozymes of beta-glucosidase: determination of Gaucher's disease phenotypes.
    Ginns EI; Erickson A; Tegelaers FP; Barneveld R; Reuser AJ; Brady RO; Tager JM; Barranger JA
    Isozymes Curr Top Biol Med Res; 1983; 11():83-93. PubMed ID: 6417048
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.