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219 related items for PubMed ID: 3995063

  • 1. GM2-ganglioside metabolism in cultured human skin fibroblasts: unambiguous diagnosis of GM2-gangliosidosis.
    Raghavan S, Krusell A, Lyerla TA, Bremer EG, Kolodny EH.
    Biochim Biophys Acta; 1985 Apr 25; 834(2):238-48. PubMed ID: 3995063
    [Abstract] [Full Text] [Related]

  • 2. Ganglioside loading of cultured fibroblasts: a provocative method for the diagnosis of the GM2 gangliosidoses.
    Charrow J, Binns HJ.
    Clin Chim Acta; 1986 Apr 15; 156(1):41-9. PubMed ID: 2938852
    [Abstract] [Full Text] [Related]

  • 3. Incorporation and metabolism of ganglioside GM2 in skin fibroblasts from normal and GM2 gangliosidosis subjects.
    Sonderfeld S, Conzelmann E, Schwarzmann G, Burg J, Hinrichs U, Sandhoff K.
    Eur J Biochem; 1985 Jun 03; 149(2):247-55. PubMed ID: 3922757
    [Abstract] [Full Text] [Related]

  • 4. GM2-ganglioside metabolism in hexosaminidase A deficiency states: determination in situ using labeled GM2 added to fibroblast cultures.
    Raghavan SS, Krusell A, Krusell J, Lyerla TA, Kolodny EH.
    Am J Hum Genet; 1985 Nov 03; 37(6):1071-82. PubMed ID: 2934978
    [Abstract] [Full Text] [Related]

  • 5. Classification of disorders of GM2 ganglioside hydrolysis using 3H-GM2 as substrate.
    Novak A, Callahan JW, Lowden JA.
    Biochim Biophys Acta; 1994 Mar 02; 1199(2):215-23. PubMed ID: 8123671
    [Abstract] [Full Text] [Related]

  • 6. Plasma GM2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis.
    Blondel A, Kraoua I, Marcelino C, Khrouf W, Schlemmer D, Ganne B, Caillaud C, Fernández-Eulate G, Turki IBY, Dauriat B, Bonnefont-Rousselot D, Nadjar Y, Lamari F.
    Mol Genet Metab; 2023 Feb 02; 138(2):106983. PubMed ID: 36709536
    [Abstract] [Full Text] [Related]

  • 7. Accumulation of lysosphingolipids in tissues from patients with GM1 and GM2 gangliosidoses.
    Kobayashi T, Goto I, Okada S, Orii T, Ohno K, Nakano T.
    J Neurochem; 1992 Oct 02; 59(4):1452-8. PubMed ID: 1402895
    [Abstract] [Full Text] [Related]

  • 8. Recombinant GM2-activator protein stimulates in vivo degradation of GA2 in GM2 gangliosidosis AB variant fibroblasts but exhibits no detectable binding of GA2 in an in vitro assay.
    Bierfreund U, Lemm T, Hoffmann A, Uhlhorn-Dierks G, Childs RA, Yuen CT, Feizi T, Sandhoff K.
    Neurochem Res; 1999 Feb 02; 24(2):295-300. PubMed ID: 9972878
    [Abstract] [Full Text] [Related]

  • 9. Ganglioside accumulation in cultured skin fibroblasts from gangliosidosis patients.
    Pullarkat RK, Reha H, Beratis NG.
    Biochem Biophys Res Commun; 1980 Jan 15; 92(1):149-54. PubMed ID: 7356448
    [No Abstract] [Full Text] [Related]

  • 10. Composition of gangliosides and neutral glycosphingolipids of brain in classical Tay-Sachs and Sandhoff disease: more lyso-GM2 in Sandhoff disease?
    Rosengren B, Månsson JE, Svennerholm L.
    J Neurochem; 1987 Sep 15; 49(3):834-40. PubMed ID: 3612128
    [Abstract] [Full Text] [Related]

  • 11. 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 25; 266(3):1879-87. PubMed ID: 1824846
    [Abstract] [Full Text] [Related]

  • 12. High-resolution loading tests in the study of genetic heterogeneity in gangliosidosis fibroblasts.
    Akhunov VS, Mirenburg TV, Krasnopolskaya XD.
    J Inherit Metab Dis; 1994 Jan 25; 17(1):104-11. PubMed ID: 8051915
    [Abstract] [Full Text] [Related]

  • 13. 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 Jan 25; 8(3):e57908. PubMed ID: 23483939
    [Abstract] [Full Text] [Related]

  • 14. Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease.
    Kodama T, Togawa T, Tsukimura T, Kawashima I, Matsuoka K, Kitakaze K, Tsuji D, Itoh K, Ishida Y, Suzuki M, Suzuki T, Sakuraba H.
    PLoS One; 2011 Jan 25; 6(12):e29074. PubMed ID: 22205997
    [Abstract] [Full Text] [Related]

  • 15. Diagnosis of Tay-Sachs disease using [3H]N-acetylneuraminic acid labelled GM2 ganglioside as substrate.
    Poulos A, Holding J, Carey WF.
    Clin Chim Acta; 1982 Apr 23; 120(3):331-40. PubMed ID: 6210469
    [Abstract] [Full Text] [Related]

  • 16. [The metabolism of radiolabelled GM1-ganglioside in cultured skin fibroblasts from controls and patients with GM1-gangliosidosis].
    Inui K.
    Nihon Rinsho; 1995 Dec 23; 53(12):3102-4. PubMed ID: 8577066
    [Abstract] [Full Text] [Related]

  • 17. Evidence for direct binding of intracellularly distributed ganglioside GM2 to isolated vimentin intermediate filaments in normal and Tay-Sachs disease human fibroblasts.
    Kotani M, Hosoya H, Kubo H, Itoh K, Sakuraba H, Kusubata M, Inagaki M, Yazaki S, Suzuki Y, Tai T.
    Cell Struct Funct; 1994 Apr 23; 19(2):81-7. PubMed ID: 7923401
    [Abstract] [Full Text] [Related]

  • 18. Intracellular degradation of sulforhodamine-GM1: use for a fluorescence-based characterization of GM2-gangliosidosis variants in fibroblasts and white blood cells.
    Agmon V, Khosravi R, Marchesini S, Dinur T, Dagan A, Gatt S, Navon R.
    Clin Chim Acta; 1996 Mar 29; 247(1-2):105-20. PubMed ID: 8920231
    [Abstract] [Full Text] [Related]

  • 19. 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 29; 11(3):171-83. PubMed ID: 13950
    [Abstract] [Full Text] [Related]

  • 20. Accumulation of ganglioside Gm2 in cerebrospinal fluid of a patient with the variant AB of infantile Gm2 gangliosidosis.
    Pullarkat RK, Reha H, Beratis NG.
    Pediatrics; 1981 Jul 29; 68(1):106-8. PubMed ID: 7243492
    [Abstract] [Full Text] [Related]

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