These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

243 related articles for article (PubMed ID: 16293621)

  • 1. Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
    Liou B; Kazimierczuk A; Zhang M; Scott CR; Hegde RS; Grabowski GA
    J Biol Chem; 2006 Feb; 281(7):4242-53. PubMed ID: 16293621
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The N370S (Asn370-->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C.
    Salvioli R; Tatti M; Scarpa S; Moavero SM; Ciaffoni F; Felicetti F; Kaneski CR; Brady RO; Vaccaro AM
    Biochem J; 2005 Aug; 390(Pt 1):95-103. PubMed ID: 15826241
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants.
    Sun Y; Quinn B; Witte DP; Grabowski GA
    J Lipid Res; 2005 Oct; 46(10):2102-13. PubMed ID: 16061944
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Combination of acid β-glucosidase mutation and Saposin C deficiency in mice reveals Gba1 mutation dependent and tissue-specific disease phenotype.
    Liou B; Zhang W; Fannin V; Quinn B; Ran H; Xu K; Setchell KDR; Witte D; Grabowski GA; Sun Y
    Sci Rep; 2019 Apr; 9(1):5571. PubMed ID: 30944381
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits.
    Sun Y; Liou B; Ran H; Skelton MR; Williams MT; Vorhees CV; Kitatani K; Hannun YA; Witte DP; Xu YH; Grabowski GA
    Hum Mol Genet; 2010 Mar; 19(6):1088-97. PubMed ID: 20047948
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Characterization of the N370S mutant of glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry.
    Tang L; Coales SJ; Morrow JA; Edmunds T; Hamuro Y
    Chembiochem; 2012 Oct; 13(15):2243-50. PubMed ID: 22961873
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Gaucher disease types 1, 2, and 3: differential mutations of the acid beta-glucosidase active site identified with conduritol B epoxide derivatives and sphingosine.
    Grabowski GA; Dinur T; Osiecki KM; Kruse JR; Legler G; Gatt S
    Am J Hum Genet; 1985 May; 37(3):499-510. PubMed ID: 4003396
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The LIMP-2/SCARB2 binding motif on acid β-glucosidase: basic and applied implications for Gaucher disease and associated neurodegenerative diseases.
    Liou B; Haffey WD; Greis KD; Grabowski GA
    J Biol Chem; 2014 Oct; 289(43):30063-74. PubMed ID: 25202012
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting.
    Vaccaro AM; Motta M; Tatti M; Scarpa S; Masuelli L; Bhat M; Vanier MT; Tylki-Szymanska A; Salvioli R
    Hum Mol Genet; 2010 Aug; 19(15):2987-97. PubMed ID: 20484222
    [TBL] [Abstract][Full Text] [Related]  

  • 11. X-ray and biochemical analysis of N370S mutant human acid β-glucosidase.
    Wei RR; Hughes H; Boucher S; Bird JJ; Guziewicz N; Van Patten SM; Qiu H; Pan CQ; Edmunds T
    J Biol Chem; 2011 Jan; 286(1):299-308. PubMed ID: 20980263
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease.
    Sun Y; Zhang W; Xu YH; Quinn B; Dasgupta N; Liou B; Setchell KD; Grabowski GA
    PLoS One; 2013; 8(3):e57560. PubMed ID: 23520473
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Human acid beta-glucosidase. Use of inhibitory and activating monoclonal antibodies to investigate the enzyme's catalytic mechanism and saposin A and C binding sites.
    Fabbro D; Grabowski GA
    J Biol Chem; 1991 Aug; 266(23):15021-7. PubMed ID: 1714449
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Use of activators and inhibitors to define the properties of the active site of normal and Gaucher disease lysosomal beta-glucosidase.
    Gatt S; Dinur T; Osiecki K; Desnick RJ; Grabowski GA
    Enzyme; 1985; 33(2):109-19. PubMed ID: 3924590
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease.
    Xu YH; Quinn B; Witte D; Grabowski GA
    Am J Pathol; 2003 Nov; 163(5):2093-101. PubMed ID: 14578207
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Assessment of cellular cobalamin metabolism in Gaucher disease.
    Basgalupp SP; Siebert M; Ferreira C; Behringer S; Spiekerkoetter U; Hannibal L; Schwartz IVD
    BMC Med Genet; 2020 Jan; 21(1):12. PubMed ID: 31931749
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.
    Grace ME; Newman KM; Scheinker V; Berg-Fussman A; Grabowski GA
    J Biol Chem; 1994 Jan; 269(3):2283-91. PubMed ID: 8294487
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular basis of reduced glucosylceramidase activity in the most common Gaucher disease mutant, N370S.
    Offman MN; Krol M; Silman I; Sussman JL; Futerman AH
    J Biol Chem; 2010 Dec; 285(53):42105-14. PubMed ID: 20980259
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse model.
    Xu YH; Sun Y; Barnes S; Grabowski GA
    PLoS One; 2010 May; 5(5):e10750. PubMed ID: 20505772
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease.
    Lieberman RL; Wustman BA; Huertas P; Powe AC; Pine CW; Khanna R; Schlossmacher MG; Ringe D; Petsko GA
    Nat Chem Biol; 2007 Feb; 3(2):101-7. PubMed ID: 17187079
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.