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125 related items for PubMed ID: 9169471

  • 1. Benign HEXA mutations, C739T(R247W) and C745T(R249W), cause beta-hexosaminidase A pseudodeficiency by reducing the alpha-subunit protein levels.
    Cao Z, Petroulakis E, Salo T, Triggs-Raine B.
    J Biol Chem; 1997 Jun 06; 272(23):14975-82. PubMed ID: 9169471
    [Abstract] [Full Text] [Related]

  • 2. W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.
    Petroulakis E, Cao Z, Clarke JT, Mahuran DJ, Lee G, Triggs-Raine B.
    Hum Mutat; 1998 Jun 06; 11(6):432-42. PubMed ID: 9603435
    [Abstract] [Full Text] [Related]

  • 3. A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.
    Cao Z, Natowicz MR, Kaback MM, Lim-Steele JS, Prence EM, Brown D, Chabot T, Triggs-Raine BL.
    Am J Hum Genet; 1993 Dec 06; 53(6):1198-205. PubMed ID: 7902672
    [Abstract] [Full Text] [Related]

  • 4. Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA.
    Wicklow BA, Ivanovich JL, Plews MM, Salo TJ, Noetzel MJ, Lueder GT, Cartegni L, Kaback MM, Sandhoff K, Steiner RD, Triggs-Raine BL.
    Am J Med Genet A; 2004 Jun 01; 127A(2):158-66. PubMed ID: 15108204
    [Abstract] [Full Text] [Related]

  • 5. In situ assessment of beta-hexosaminidase activity.
    Lacorazza HD, Jendoubi M.
    Biotechniques; 1995 Sep 01; 19(3):434-40. PubMed ID: 7495557
    [Abstract] [Full Text] [Related]

  • 6. A single site in human beta-hexosaminidase A binds both 6-sulfate-groups on hexosamines and the sialic acid moiety of GM2 ganglioside.
    Sharma R, Bukovac S, Callahan J, Mahuran D.
    Biochim Biophys Acta; 2003 Jan 20; 1637(1):113-8. PubMed ID: 12527415
    [Abstract] [Full Text] [Related]

  • 7. Biochemical characterization of the GM2 gangliosidosis B1 variant.
    Tutor JC.
    Braz J Med Biol Res; 2004 Jun 20; 37(6):777-83. PubMed ID: 15264019
    [Abstract] [Full Text] [Related]

  • 8. Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient.
    Banerjee P, Boyers MJ, Berry-Kravis E, Dawson G.
    J Biol Chem; 1994 Feb 18; 269(7):4819-26. PubMed ID: 8106452
    [Abstract] [Full Text] [Related]

  • 9. Assessing the severity of the small inframe deletion mutation in the alpha-subunit of beta-hexosaminidase A found in the Turkish population by reproducing it in the more stable beta-subunit.
    Sinici I, Tropak MB, Mahuran DJ, Ozkara HA.
    J Inherit Metab Dis; 2004 Feb 18; 27(6):747-56. PubMed ID: 15505380
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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 15; 41(4):532-48. PubMed ID: 2959149
    [Abstract] [Full Text] [Related]

  • 12.
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  • 13. 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 15; 29(8):1564-9. PubMed ID: 16880605
    [Abstract] [Full Text] [Related]

  • 14. Thermodynamic characterisation of the mutated isoenzyme A of beta-N-acetylhexosaminidase in GM2-gangliosidosis B1 variant.
    Pérez LF, Ribeiro HM, Casal JA, Pinto RA, Sá Miranda MC, Tutor JC.
    Clin Chim Acta; 1999 Jul 15; 285(1-2):45-51. PubMed ID: 10481922
    [Abstract] [Full Text] [Related]

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  • 16. A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype.
    Navon R, Khosravi R, Korczyn T, Masson M, Sonnino S, Fardeau M, Eymard B, Lefevre M, Turpin JC, Rondot P.
    Neurology; 1995 Mar 15; 45(3 Pt 1):539-43. PubMed ID: 7898712
    [Abstract] [Full Text] [Related]

  • 17. The mutation mechanism causing juvenile-onset Tay-Sachs disease among Lebanese.
    Hechtman P, Boulay B, Bayleran J, Andermann E.
    Clin Genet; 1989 May 15; 35(5):364-75. PubMed ID: 2527097
    [Abstract] [Full Text] [Related]

  • 18. Late onset GM2 gangliosidosis: an alpha-locus genetic compound with near normal hexosaminidase activity.
    Charrow J, Inui K, Wenger DA.
    Clin Genet; 1985 Jan 15; 27(1):78-84. PubMed ID: 3156697
    [Abstract] [Full Text] [Related]

  • 19. II. Characterization and development of the regional- and cellular-specific abnormalities in the epididymis of mice with beta-hexosaminidase A deficiency.
    Adamali HI, Somani IH, Huang JQ, Gravel RA, Trasler JM, Hermo L.
    J Androl; 1999 Jan 15; 20(6):803-24. PubMed ID: 10591619
    [Abstract] [Full Text] [Related]

  • 20. Partial deficiency of beta-hexosaminidase activity in canine GM2-gangliosidosis.
    Eto Y, Ida H, Umezawa F, Ohashi T, Gomibuchi I, Maekawa K.
    Tohoku J Exp Med; 1987 Aug 15; 152(4):333-8. PubMed ID: 2958961
    [Abstract] [Full Text] [Related]

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