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Journal Abstract Search

396 related items for PubMed ID: 8789434

  • 1. 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; 5(1):1-14. PubMed ID: 8789434
    [Abstract] [Full Text] [Related]

  • 2. 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; 6(11):1879-85. PubMed ID: 9302266
    [Abstract] [Full Text] [Related]

  • 3. Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism.
    Sango K, Yamanaka S, Hoffmann A, Okuda Y, Grinberg A, Westphal H, McDonald MP, Crawley JN, Sandhoff K, Suzuki K, Proia RL.
    Nat Genet; 1995 Oct; 11(2):170-6. PubMed ID: 7550345
    [Abstract] [Full Text] [Related]

  • 4. Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
    Norflus F, Yamanaka S, Proia RL.
    DNA Cell Biol; 1996 Feb; 15(2):89-97. PubMed ID: 8634145
    [Abstract] [Full Text] [Related]

  • 5. Inefficiency in GM2 ganglioside elimination by human lysosomal beta-hexosaminidase beta-subunit gene transfer to fibroblastic cell line derived from Sandhoff disease model mice.
    Itakura T, Kuroki A, Ishibashi Y, Tsuji D, Kawashita E, Higashine Y, Sakuraba H, Yamanaka S, Itoh K.
    Biol Pharm Bull; 2006 Aug; 29(8):1564-9. PubMed ID: 16880605
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Characterization of inducible models of Tay-Sachs and related disease.
    Sargeant TJ, Drage DJ, Wang S, Apostolakis AA, Cox TM, Cachón-González MB.
    PLoS Genet; 2012 Sep 10; 8(9):e1002943. PubMed ID: 23028353
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. Murine Sialidase Neu3 facilitates GM2 degradation and bypass in mouse model of Tay-Sachs disease.
    Seyrantepe V, Demir SA, Timur ZK, Von Gerichten J, Marsching C, Erdemli E, Oztas E, Takahashi K, Yamaguchi K, Ates N, Dönmez Demir B, Dalkara T, Erich K, Hopf C, Sandhoff R, Miyagi T.
    Exp Neurol; 2018 Jan 10; 299(Pt A):26-41. PubMed ID: 28974375
    [Abstract] [Full Text] [Related]

  • 10. The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis.
    Mahuran DJ.
    Biochim Biophys Acta; 1991 Feb 22; 1096(2):87-94. PubMed ID: 1825792
    [No Abstract] [Full Text] [Related]

  • 11. Production of recombinant beta-hexosaminidase A, a potential enzyme for replacement therapy for Tay-Sachs and Sandhoff diseases, in the methylotrophic yeast Ogataea minuta.
    Akeboshi H, Chiba Y, Kasahara Y, Takashiba M, Takaoka Y, Ohsawa M, Tajima Y, Kawashima I, Tsuji D, Itoh K, Sakuraba H, Jigami Y.
    Appl Environ Microbiol; 2007 Aug 22; 73(15):4805-12. PubMed ID: 17557860
    [Abstract] [Full Text] [Related]

  • 12. Biochemical consequences of mutations causing the GM2 gangliosidoses.
    Mahuran DJ.
    Biochim Biophys Acta; 1999 Oct 08; 1455(2-3):105-38. PubMed ID: 10571007
    [Abstract] [Full Text] [Related]

  • 13. Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease.
    McInnes B, Brown CA, Mahuran DJ.
    Biochim Biophys Acta; 1992 Apr 14; 1138(4):315-7. PubMed ID: 1532910
    [Abstract] [Full Text] [Related]

  • 14. In cellulo examination of a beta-alpha hybrid construct of beta-hexosaminidase A subunits, reported to interact with the GM2 activator protein and hydrolyze GM2 ganglioside.
    Sinici I, Yonekawa S, Tkachyova I, Gray SJ, Samulski RJ, Wakarchuk W, Mark BL, Mahuran DJ.
    PLoS One; 2013 Apr 14; 8(3):e57908. PubMed ID: 23483939
    [Abstract] [Full Text] [Related]

  • 15. Improvement of motor and behavioral activity in Sandhoff mice transplanted with human CD34+ cells transduced with a HexA/HexB expressing lentiviral vector.
    Beegle J, Hendrix K, Maciel H, Nolta JA, Anderson JS.
    J Gene Med; 2020 Sep 14; 22(9):e3205. PubMed ID: 32335981
    [Abstract] [Full Text] [Related]

  • 16. Metabolic correction in microglia derived from Sandhoff disease model mice.
    Tsuji D, Kuroki A, Ishibashi Y, Itakura T, Itoh K.
    J Neurochem; 2005 Sep 14; 94(6):1631-8. PubMed ID: 16092933
    [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 Sep 14; 38(3):127-32. PubMed ID: 1461844
    [No Abstract] [Full Text] [Related]

  • 18. Specific induction of macrophage inflammatory protein 1-alpha in glial cells of Sandhoff disease model mice associated with accumulation of N-acetylhexosaminyl glycoconjugates.
    Tsuji D, Kuroki A, Ishibashi Y, Itakura T, Kuwahara J, Yamanaka S, Itoh K.
    J Neurochem; 2005 Mar 14; 92(6):1497-507. PubMed ID: 15748167
    [Abstract] [Full Text] [Related]

  • 19. Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment.
    Liu Y, Hoffmann A, Grinberg A, Westphal H, McDonald MP, Miller KM, Crawley JN, Sandhoff K, Suzuki K, Proia RL.
    Proc Natl Acad Sci U S A; 1997 Jul 22; 94(15):8138-43. PubMed ID: 9223328
    [Abstract] [Full Text] [Related]

  • 20. [Recent advances in molecular genetics of GM2 gangliosidosis].
    Wakamatsu N.
    Nihon Rinsho; 1995 Dec 22; 53(12):2988-93. PubMed ID: 8577047
    [Abstract] [Full Text] [Related]

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