BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

138 related articles for article (PubMed ID: 2949109)

  • 1. Hexosaminidase A activity in skin fibroblasts from various types of GM2 gangliosidosis using a fluorogenic sulphated substrate.
    Inui K; Yutaka T; Okada S; Yabuuchi H; Wenger DA; Desnick RJ
    J Inherit Metab Dis; 1985; 8(3):149-50. PubMed ID: 2949109
    [No Abstract]   [Full Text] [Related]  

  • 2. 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; 152(4):333-8. PubMed ID: 2958961
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Biochemical characterization of beta-hexosaminidase in different biological specimens from eleven patients with GM2-gangliosidosis B1 variant.
    Ribeiro MG; Pinto RA; Dos Santos MR; Maia M; Sá Miranda MC
    J Inherit Metab Dis; 1991; 14(5):715-20. PubMed ID: 1838125
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Biochemical and molecular aspects of late-onset GM2-gangliosidosis: B1 variant as a prototype.
    Suzuki K; Vanier MT
    Dev Neurosci; 1991; 13(4-5):288-94. PubMed ID: 1840099
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 1637(1):113-8. PubMed ID: 12527415
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Ganglioside GM2 N-acetyl-beta-D-galactosaminidase and asialo GM2 (GA2) N-acetyl-beta-D-galactosaminidase; studies in human skin fibroblasts.
    O'Brien JS; Norden GW; Miller AL; Frost RG; Kelly TE
    Clin Genet; 1977 Mar; 11(3):171-83. PubMed ID: 13950
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Ganglioside loading of cultured fibroblasts: a provocative method for the diagnosis of the GM2 gangliosidoses.
    Charrow J; Binns HJ
    Clin Chim Acta; 1986 Apr; 156(1):41-9. PubMed ID: 2938852
    [TBL] [Abstract][Full Text] [Related]  

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

  • 9. Mutation in GM2-gangliosidosis B1 variant.
    Ohno K; Suzuki K
    J Neurochem; 1988 Jan; 50(1):316-8. PubMed ID: 2961848
    [TBL] [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; 143(2):73-89. PubMed ID: 6239713
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificity.
    Kytzia HJ; Hinrichs U; Maire I; Suzuki K; Sandhoff K
    EMBO J; 1983; 2(7):1201-5. PubMed ID: 6226523
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Biochemical characterization of the Cys138Arg substitution associated with the AB variant form of GM2 gangliosidosis: evidence that Cys138 is required for the recognition of the GM2 activator/GM2 ganglioside complex by beta-hexosaminidase A.
    Xie B; Rigat B; Smiljanic-Georgijev N; Deng H; Mahuran D
    Biochemistry; 1998 Jan; 37(3):814-21. PubMed ID: 9454570
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Biochemical basis of type AB GM2 gangliosidosis in a Japanese spaniel.
    Ishikawa Y; Li SC; Wood PA; Li YT
    J Neurochem; 1987 Mar; 48(3):860-4. PubMed ID: 2949061
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Prenatal diagnosis of GM2 gangliosidosis with high residual hexosaminidase A activity (variant B1; pseudo AB variant).
    Conzelmann E; Nehrkorn H; Kytzia HJ; Sandhoff K; Macek M; Lehovský M; Elleder M; Jirásek A; Kobilková J
    Pediatr Res; 1985 Nov; 19(11):1220-4. PubMed ID: 2933632
    [TBL] [Abstract][Full Text] [Related]  

  • 15. CRISPR/nCas9-Based Genome Editing on GM2 Gangliosidoses Fibroblasts via Non-Viral Vectors.
    Leal AF; Cifuentes J; Quezada V; Benincore-Flórez E; Cruz JC; Reyes LH; Espejo-Mojica AJ; Alméciga-Díaz CJ
    Int J Mol Sci; 2022 Sep; 23(18):. PubMed ID: 36142595
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic complementation in somatic cell hybrids of four variants of infantile GM2 gangliosidosis.
    Sonderfeld S; Brendler S; Sandhoff K; Galjaard H; Hoogeveen AT
    Hum Genet; 1985; 71(3):196-200. PubMed ID: 2933318
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Assay of ganglioside GM2-N-acetyl-beta-D-galactosaminidase activity in human fibroblasts employing the natural activator protein--diagnosis of variant forms of GM2 gangliosidosis.
    Erzberger A; Conzelmann E; Sandhoff K
    Clin Chim Acta; 1980 Dec; 108(3):361-8. PubMed ID: 6781795
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The human GM2 activator protein. A substrate specific cofactor of beta-hexosaminidase A.
    Meier EM; Schwarzmann G; Fürst W; Sandhoff K
    J Biol Chem; 1991 Jan; 266(3):1879-87. PubMed ID: 1824846
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Retrovirus-mediated transfer and expression of beta-hexosaminidase alpha-chain cDNA in human fibroblasts from G(M2)-gangliosidosis B1 variant.
    Teixeira CA; Sena-Esteves M; Lopes L; Sá Miranda MC; Ribeiro MG
    Hum Gene Ther; 2001 Sep; 12(14):1771-83. PubMed ID: 11560770
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of plasma membrane associated mature beta-hexosaminidase A, active towards GM2 ganglioside, in human fibroblasts.
    Mencarelli S; Cavalieri C; Magini A; Tancini B; Basso L; Lemansky P; Hasilik A; Li YT; Chigorno V; Orlacchio A; Emiliani C; Sonnino S
    FEBS Lett; 2005 Oct; 579(25):5501-6. PubMed ID: 16212960
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.