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Journal Abstract Search

390 related items for PubMed ID: 8875224

  • 21. Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification.
    Vallance H, Morris TJ, Coulter-Mackie M, Lim-Steele J, Kaback M.
    Mol Genet Metab; 2006 Feb; 87(2):122-7. PubMed ID: 16352452
    [Abstract] [Full Text] [Related]

  • 22. Tay-Sachs disease with hexosaminidase A: characterization of the defective enzyme in two patients.
    Bayleran J, Hechtman P, Kolodny E, Kaback M.
    Am J Hum Genet; 1987 Oct; 41(4):532-48. PubMed ID: 2959149
    [Abstract] [Full Text] [Related]

  • 23. Identification of candidate active site residues in lysosomal beta-hexosaminidase A.
    Fernandes MJ, Yew S, Leclerc D, Henrissat B, Vorgias CE, Gravel RA, Hechtman P, Kaplan F.
    J Biol Chem; 1997 Jan 10; 272(2):814-20. PubMed ID: 8995368
    [Abstract] [Full Text] [Related]

  • 24. Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis.
    Sango K, McDonald MP, Crawley JN, Mack ML, Tifft CJ, Skop E, Starr CM, Hoffmann A, Sandhoff K, Suzuki K, Proia RL.
    Nat Genet; 1996 Nov 10; 14(3):348-52. PubMed ID: 8896570
    [Abstract] [Full Text] [Related]

  • 25. Tay-Sachs disease brain cells in culture: mobilization of stored GM2 after concanavalin A-mediated uptake of hexosaminidase A.
    Hoffman LM, Brooks SE, Amsterdam D, Oropello J, Schneck L.
    J Neurosci Res; 1980 Nov 10; 5(5):413-7. PubMed ID: 7441795
    [Abstract] [Full Text] [Related]

  • 26. beta-hexosaminidase in cultured normal and mutant human fibroblasts: an immunohistochemical and biochemical investigation.
    Elsafi ME, Elbashir MI, Hultberg B, Isaksson A, Hägerstrand I, Stenram U.
    Scand J Clin Lab Invest; 1991 Dec 10; 51(8):711-4. PubMed ID: 1839650
    [Abstract] [Full Text] [Related]

  • 27. Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.
    Drucker L, Hemli JA, Navon R.
    Hum Mutat; 1997 Dec 10; 10(6):451-7. PubMed ID: 9401008
    [Abstract] [Full Text] [Related]

  • 28. A new form of residual hexosaminidase activity in infantile Tay Sachs disease fibroblasts.
    Hechtman P, Khoo K, Isaacs C.
    Clin Genet; 1983 Sep 10; 24(3):206-15. PubMed ID: 6226462
    [Abstract] [Full Text] [Related]

  • 29. Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis.
    Lemieux MJ, Mark BL, Cherney MM, Withers SG, Mahuran DJ, James MN.
    J Mol Biol; 2006 Jun 16; 359(4):913-29. PubMed ID: 16698036
    [Abstract] [Full Text] [Related]

  • 30. Molecular basis of heat labile hexosaminidase B among Jews and Arabs.
    Narkis G, Adam A, Jaber L, Pennybacker M, Proia RL, Navon R.
    Hum Mutat; 1997 Jun 16; 10(6):424-9. PubMed ID: 9401004
    [Abstract] [Full Text] [Related]

  • 31. Hereditary heat-labile hexosaminidase B: a variant whose homozygotes synthesize a functional HEX A.
    Navon R, Kopel R, Nutman J, Frisch A, Conzelmann E, Sandhoff K, Adam A.
    Am J Hum Genet; 1985 Jan 16; 37(1):138-46. PubMed ID: 3156493
    [Abstract] [Full Text] [Related]

  • 32. Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice.
    Guidotti JE, Mignon A, Haase G, Caillaud C, McDonell N, Kahn A, Poenaru L.
    Hum Mol Genet; 1999 May 16; 8(5):831-8. PubMed ID: 10196372
    [Abstract] [Full Text] [Related]

  • 33. Ganglioside GM2 levels in human melanoma cells: inverse correlation with lysosomal beta-hexosaminidase A activity.
    Hoon DS, Kaback MM, Lim-Steele J, Tsuchida T, Morton DL, Irie RF.
    Biochem Int; 1992 Jul 16; 27(2):343-52. PubMed ID: 1386984
    [Abstract] [Full Text] [Related]

  • 34. Metabolic correction in microglia derived from Sandhoff disease model mice.
    Tsuji D, Kuroki A, Ishibashi Y, Itakura T, Itoh K.
    J Neurochem; 2005 Sep 16; 94(6):1631-8. PubMed ID: 16092933
    [Abstract] [Full Text] [Related]

  • 35. Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.
    Guetta E, Peleg L.
    Methods Mol Biol; 2008 Sep 16; 444():147-59. PubMed ID: 18425478
    [Abstract] [Full Text] [Related]

  • 36. [Reconstruction of hexosaminidase isoenzymes during hybridization of fibroblasts from Tay-Sachs and Sandhoff diseases].
    Beĭer EM, Vidershaĭn GIa, Venert M.
    Biull Eksp Biol Med; 1984 Jan 16; 97(1):83-6. PubMed ID: 6229294
    [Abstract] [Full Text] [Related]

  • 37. cDNA clone for the alpha-chain of human beta-hexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts.
    Myerowitz R, Proia RL.
    Proc Natl Acad Sci U S A; 1984 Sep 16; 81(17):5394-8. PubMed ID: 6236461
    [Abstract] [Full Text] [Related]

  • 38. A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-Sachs disease.
    Nakano T, Nanba E, Tanaka A, Ohno K, Suzuki Y, Suzuki K.
    Ann Neurol; 1990 May 16; 27(5):465-73. PubMed ID: 2141777
    [Abstract] [Full Text] [Related]

  • 39. Expression of human beta-hexosaminidase alpha-subunit gene (the gene defect of Tay-Sachs disease) in mouse brains upon engraftment of transduced progenitor cells.
    Lacorazza HD, Flax JD, Snyder EY, Jendoubi M.
    Nat Med; 1996 Apr 16; 2(4):424-9. PubMed ID: 8597952
    [Abstract] [Full Text] [Related]

  • 40. Reversion of the biochemical defects in murine embryonic Sandhoff neurons using a bicistronic lentiviral vector encoding hexosaminidase alpha and beta.
    Arfi A, Zisling R, Richard E, Batista L, Poenaru L, Futerman AH, Caillaud C.
    J Neurochem; 2006 Mar 16; 96(6):1572-9. PubMed ID: 16441513
    [Abstract] [Full Text] [Related]

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