BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

190 related articles for article (PubMed ID: 18490185)

  • 1. Structural consequences of amino acid substitutions causing Tay-Sachs disease.
    Ohno K; Saito S; Sugawara K; Sakuraba H
    Mol Genet Metab; 2008 Aug; 94(4):462-468. PubMed ID: 18490185
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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;
    Gene; 2012 Sep; 506(1):25-30. PubMed ID: 22789865
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.
    Harmon DL; Gardner-Medwin D; Stirling JL
    J Med Genet; 1993 Feb; 30(2):123-8. PubMed ID: 8445615
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.
    Mistri M; Tamhankar PM; Sheth F; Sanghavi D; Kondurkar P; Patil S; Idicula-Thomas S; Gupta S; Sheth J
    PLoS One; 2012; 7(6):e39122. PubMed ID: 22723944
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.
    Akli S; Chomel JC; Lacorte JM; Bachner L; Kahn A; Poenaru L
    Hum Mol Genet; 1993 Jan; 2(1):61-7. PubMed ID: 8490625
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.
    Myerowitz R
    Hum Mutat; 1997; 9(3):195-208. PubMed ID: 9090523
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Beta-hexosaminidase: biosynthesis and processing of the normal enzyme, and identification of mutations causing Jewish Tay-Sachs disease.
    Mahuran DJ
    Clin Biochem; 1995 Apr; 28(2):101-6. PubMed ID: 7628066
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The Val192Leu mutation in the alpha-subunit of beta-hexosaminidase A is not associated with the B1-variant form of Tay-Sachs disease.
    Hou Y; Vavougios G; Hinek A; Wu KK; Hechtman P; Kaplan F; Mahuran DJ
    Am J Hum Genet; 1996 Jul; 59(1):52-8. PubMed ID: 8659543
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Tay-Sachs disease].
    Tanaka A
    Nihon Rinsho; 1993 Sep; 51(9):2281-5. PubMed ID: 8411703
    [TBL] [Abstract][Full Text] [Related]  

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

  • 11. Active arginine residues in beta-hexosaminidase. Identification through studies of the B1 variant of Tay-Sachs disease.
    Brown CA; Mahuran DJ
    J Biol Chem; 1991 Aug; 266(24):15855-62. PubMed ID: 1831451
    [TBL] [Abstract][Full Text] [Related]  

  • 12. An inducible mouse model of late onset Tay-Sachs disease.
    Jeyakumar M; Smith D; Eliott-Smith E; Cortina-Borja M; Reinkensmeier G; Butters TD; Lemm T; Sandhoff K; Perry VH; Dwek RA; Platt FM
    Neurobiol Dis; 2002 Aug; 10(3):201-10. PubMed ID: 12270683
    [TBL] [Abstract][Full Text] [Related]  

  • 13. beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease.
    Brown CA; Mahuran DJ
    Am J Hum Genet; 1993 Aug; 53(2):497-508. PubMed ID: 8328462
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Biochemistry and genetics of Tay-Sachs disease.
    Gravel RA; Triggs-Raine BL; Mahuran DJ
    Can J Neurol Sci; 1991 Aug; 18(3 Suppl):419-23. PubMed ID: 1834320
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 11(6):432-42. PubMed ID: 9603435
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Introduction of the alpha subunit mutation associated with the B1 variant of Tay-Sachs disease into the beta subunit produces a beta-hexosaminidase B without catalytic activity.
    Brown CA; Neote K; Leung A; Gravel RA; Mahuran DJ
    J Biol Chem; 1989 Dec; 264(36):21705-10. PubMed ID: 2532211
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.
    Trop I; Kaplan F; Brown C; Mahuran D; Hechtman P
    Hum Mutat; 1992; 1(1):35-9. PubMed ID: 1301189
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 359(4):913-29. PubMed ID: 16698036
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Characterization of two Turkish beta-hexosaminidase mutations causing Tay-Sachs disease.
    Ozkara HA; Sandhoff K
    Brain Dev; 2003 Apr; 25(3):191-4. PubMed ID: 12689698
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A pathogenic HEXA missense variant in wild boars with Tay-Sachs disease.
    Bertani V; Prioni S; Di Lecce R; Gazza F; Ragionieri L; Merialdi G; Bonilauri P; Jagannathan V; Grassi S; Cabitta L; Paoli A; Morrone A; Sonnino S; Drögemüller C; Cantoni AM
    Mol Genet Metab; 2021 Jul; 133(3):297-306. PubMed ID: 34119419
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.