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Journal Abstract Search

197 related items for PubMed ID: 2990625

  • 1. Epstein-Barr virus transformed lymphoid cell lines as a new model system in culture for the study of GM2-gangliosidoses: Tay-Sachs and Sandhoff diseases.
    Maret A, Salvayre R, Negre A, Bes JC, Douste-Blazy L.
    Biol Cell; 1985; 53(3):293-6. PubMed ID: 2990625
    [Abstract] [Full Text] [Related]

  • 2. Molecular forms of beta-N-acetylhexosaminidase in Epstein-Barr virus-transformed lymphoid cell lines from normal subjects and patients with Tay-Sachs disease.
    Salvayre R, Maret A, Negre A, Lenoir G, Vuillaume M, Icart J, Didier J, Douste-Blazy L.
    Eur J Biochem; 1983 Jul 01; 133(3):627-33. PubMed ID: 6305653
    [Abstract] [Full Text] [Related]

  • 3. Validity of lymphoid cell line for enzymatic studies of GM2-gangliosidosis variant 0 (Sandhoff disease).
    Maret A, Salvayre R, Radon J, Hardy M, Vuillaume M, Lenoir G, Douste-Blazy L.
    Enzyme; 1985 Jul 01; 34(1):48-56. PubMed ID: 3002784
    [Abstract] [Full Text] [Related]

  • 4. Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases.
    Huang JQ, Trasler JM, Igdoura S, Michaud J, Hanal N, Gravel RA.
    Hum Mol Genet; 1997 Oct 01; 6(11):1879-85. PubMed ID: 9302266
    [Abstract] [Full Text] [Related]

  • 5. GM2 gangliosidoses: a review of cases confirmed by beta-N-acetylhexosaminidase assay.
    Christopher R, Rangaswamy GR, Shetty KT.
    Indian J Pediatr; 1995 Oct 01; 62(4):479-83. PubMed ID: 10829909
    [Abstract] [Full Text] [Related]

  • 6. Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards.
    Chamoles NA, Blanco M, Gaggioli D, Casentini C.
    Clin Chim Acta; 2002 Apr 01; 318(1-2):133-7. PubMed ID: 11880123
    [Abstract] [Full Text] [Related]

  • 7. Enzyme immunoassay of beta-hexosaminidase A and B in serum: carrier detection of GM2-gangliosidoses, and equivalence of enzyme activity and enzyme protein reactivity.
    Isaksson A, Hultberg B, Masson P, Landels E, Fensom A.
    Clin Chem; 1993 Jul 01; 39(7):1412-5. PubMed ID: 8330398
    [Abstract] [Full Text] [Related]

  • 8. Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease.
    Mark BL, Mahuran DJ, Cherney MM, Zhao D, Knapp S, James MN.
    J Mol Biol; 2003 Apr 11; 327(5):1093-109. PubMed ID: 12662933
    [Abstract] [Full Text] [Related]

  • 9. GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
    Gort L, de Olano N, Macías-Vidal J, Coll MA, Spanish GM2 Working Group.
    Gene; 2012 Sep 10; 506(1):25-30. PubMed ID: 22789865
    [Abstract] [Full Text] [Related]

  • 10. Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease.
    Kodama T, Togawa T, Tsukimura T, Kawashima I, Matsuoka K, Kitakaze K, Tsuji D, Itoh K, Ishida Y, Suzuki M, Suzuki T, Sakuraba H.
    PLoS One; 2011 Sep 10; 6(12):e29074. PubMed ID: 22205997
    [Abstract] [Full Text] [Related]

  • 11. Characterization of the testis and epididymis in mouse models of human Tay Sachs and Sandhoff diseases and partial determination of accumulated gangliosides.
    Trasler J, Saberi F, Somani IH, Adamali HI, Huang JQ, Fortunato SR, Ritter G, Gu M, Aebersold R, Gravel RA, Hermo L.
    Endocrinology; 1998 Jul 10; 139(7):3280-8. PubMed ID: 9645704
    [Abstract] [Full Text] [Related]

  • 12. Assay of the GM2-ganglioside cleaving hexosaminidase activity of skin fibroblasts for GM2-gangliosidoses.
    Harzer K.
    Clin Chim Acta; 1983 Nov 30; 135(1):89-93. PubMed ID: 6228344
    [No Abstract] [Full Text] [Related]

  • 13. 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 30; 51(8):711-4. PubMed ID: 1839650
    [Abstract] [Full Text] [Related]

  • 14. Synthesis of 4-methylumbelliferyl-beta-D-N-acetylglucosamine-6-sulfate and its use in classification of GM2 gangliosidosis genotypes.
    Bayleran J, Hechtman P, Saray W.
    Clin Chim Acta; 1984 Nov 15; 143(2):73-89. PubMed ID: 6239713
    [Abstract] [Full Text] [Related]

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

  • 16. Lysosomal acid hydrolases in established lymphoblastoid cell lines, transformed by Epstein-Barr virus, from patients with genetic lysosomal storage diseases.
    Minami R, Watanabe Y, Kudoh T, Suzuki M, Oyanagi K, Orii T, Nakao T.
    Hum Genet; 1978 Oct 19; 44(1):79-87. PubMed ID: 213379
    [Abstract] [Full Text] [Related]

  • 17. [Beta-N-acetyl-hexosaminidase--the enzyme of Tay-Sachs and Sandhoff diseases].
    Zwierz K, Juszkiewicz J, Arciuch L, Gindzieński A.
    Postepy Biochem; 1992 Oct 19; 38(3):127-32. PubMed ID: 1461844
    [No Abstract] [Full Text] [Related]

  • 18. [Molecular pathogenesis and therapeutic approach of GM2 gangliosidosis].
    Tsuji D.
    Yakugaku Zasshi; 2013 Oct 19; 133(2):269-74. PubMed ID: 23370522
    [Abstract] [Full Text] [Related]

  • 19. [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 19; 97(1):83-6. PubMed ID: 6229294
    [Abstract] [Full Text] [Related]

  • 20. Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases.
    Phaneuf D, Wakamatsu N, Huang JQ, Borowski A, Peterson AC, Fortunato SR, Ritter G, Igdoura SA, Morales CR, Benoit G, Akerman BR, Leclerc D, Hanai N, Marth JD, Trasler JM, Gravel RA.
    Hum Mol Genet; 1996 Jan 19; 5(1):1-14. PubMed ID: 8789434
    [Abstract] [Full Text] [Related]

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