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Journal Abstract Search

241 related items for PubMed ID: 2147027

  • 1. Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.
    Neote K, McInnes B, Mahuran DJ, Gravel RA.
    J Clin Invest; 1990 Nov; 86(5):1524-31. PubMed ID: 2147027
    [Abstract] [Full Text] [Related]

  • 2. [Lysosome disease--Sandhoff disease].
    Eguchi I, Wakamatsu N, Nakano R, Tsuji S.
    Nihon Rinsho; 1993 Sep; 51(9):2276-80. PubMed ID: 8411702
    [Abstract] [Full Text] [Related]

  • 3. An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.
    McInnes B, Potier M, Wakamatsu N, Melancon SB, Klavins MH, Tsuji S, Mahuran DJ.
    J Clin Invest; 1992 Aug; 90(2):306-14. PubMed ID: 1386607
    [Abstract] [Full Text] [Related]

  • 4. Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
    Yamanaka S, Johnson ON, Norflus F, Boles DJ, Proia RL.
    Genomics; 1994 Jun; 21(3):588-96. PubMed ID: 7959736
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease.
    Furihata K, Drousiotou A, Hara Y, Christopoulos G, Stylianidou G, Anastasiadou V, Ueno I, Ioannou P.
    Hum Mutat; 1999 Sep 10; 13(1):38-43. PubMed ID: 9888387
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  • 8. A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease.
    Kuroki Y, Itoh K, Nadaoka Y, Tanaka T, Sakuraba H.
    Biochem Biophys Res Commun; 1995 Jul 17; 212(2):564-71. PubMed ID: 7626071
    [Abstract] [Full Text] [Related]

  • 9. 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]

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  • 11. Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect.
    Santoro M, Modoni A, Sabatelli M, Madia F, Piemonte F, Tozzi G, Ricci E, Tonali PA, Silvestri G.
    Mol Genet Metab; 2007 May 14; 91(1):111-4. PubMed ID: 17251047
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  • 13. A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff disease.
    Gomez-Lira M, Perusi C, Brutti N, Farnetani MA, Margollicci MA, Rizzuto N, Pignatti PF, Salviati A.
    Hum Mutat; 1995 May 14; 6(3):260-2. PubMed ID: 8535449
    [No Abstract] [Full Text] [Related]

  • 14. A frequent TG deletion near the polyadenylation signal of the human HEXB gene: occurrence of an irregular DNA structure and conserved nucleotide sequence motif in the 3' untranslated region.
    Kleiman FE, Ramírez AO, Dodelson de Kremer R, Gravel RA, Argaraña CE.
    Hum Mutat; 1998 May 14; 12(5):320-9. PubMed ID: 9792408
    [Abstract] [Full Text] [Related]

  • 15. Bicistronic lentiviral vector corrects beta-hexosaminidase deficiency in transduced and cross-corrected human Sandhoff fibroblasts.
    Arfi A, Bourgoin C, Basso L, Emiliani C, Tancini B, Chigorno V, Li YT, Orlacchio A, Poenaru L, Sonnino S, Caillaud C.
    Neurobiol Dis; 2005 Nov 14; 20(2):583-93. PubMed ID: 15953731
    [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. Impact of premature stop codons on mRNA levels in infantile Sandhoff disease.
    Zhang ZX, Wakamatsu N, Mules EH, Thomas GH, Gravel RA.
    Hum Mol Genet; 1994 Jan 14; 3(1):139-45. PubMed ID: 8162015
    [Abstract] [Full Text] [Related]

  • 18. Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
    Norflus F, Yamanaka S, Proia RL.
    DNA Cell Biol; 1996 Feb 14; 15(2):89-97. PubMed ID: 8634145
    [Abstract] [Full Text] [Related]

  • 19. Identification of an active acidic residue in the catalytic site of beta-hexosaminidase.
    Tse R, Vavougios G, Hou Y, Mahuran DJ.
    Biochemistry; 1996 Jun 11; 35(23):7599-607. PubMed ID: 8652542
    [Abstract] [Full Text] [Related]

  • 20. 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 11; 14(3):348-52. PubMed ID: 8896570
    [Abstract] [Full Text] [Related]

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