BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

489 related articles for article (PubMed ID: 14972652)

  • 1. Late onset Tay-Sachs disease in mice with targeted disruption of the Hexa gene: behavioral changes and pathology of the central nervous system.
    Miklyaeva EI; Dong W; Bureau A; Fattahie R; Xu Y; Su M; Fick GH; Huang JQ; Igdoura S; Hanai N; Gravel RA
    Brain Res; 2004 Mar; 1001(1-2):37-50. PubMed ID: 14972652
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Murine Sialidase Neu3 facilitates GM2 degradation and bypass in mouse model of Tay-Sachs disease.
    Seyrantepe V; Demir SA; Timur ZK; Von Gerichten J; Marsching C; Erdemli E; Oztas E; Takahashi K; Yamaguchi K; Ates N; Dönmez Demir B; Dalkara T; Erich K; Hopf C; Sandhoff R; Miyagi T
    Exp Neurol; 2018 Jan; 299(Pt A):26-41. PubMed ID: 28974375
    [TBL] [Abstract][Full Text] [Related]  

  • 3. GM2 ganglioside accumulation causes neuroinflammation and behavioral alterations in a mouse model of early onset Tay-Sachs disease.
    Demir SA; Timur ZK; Ateş N; Martínez LA; Seyrantepe V
    J Neuroinflammation; 2020 Sep; 17(1):277. PubMed ID: 32951593
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Molecular pathogenesis and therapeutic approach of GM2 gangliosidosis].
    Tsuji D
    Yakugaku Zasshi; 2013; 133(2):269-74. PubMed ID: 23370522
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism.
    Sango K; Yamanaka S; Hoffmann A; Okuda Y; Grinberg A; Westphal H; McDonald MP; Crawley JN; Sandhoff K; Suzuki K; Proia RL
    Nat Genet; 1995 Oct; 11(2):170-6. PubMed ID: 7550345
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients.
    Shapiro BE; Logigian EL; Kolodny EH; Pastores GM
    Muscle Nerve; 2008 Aug; 38(2):1012-5. PubMed ID: 18642377
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Neuropathology of mice with targeted disruption of Hexa gene, a model of Tay-Sachs disease.
    Taniike M; Yamanaka S; Proia RL; Langaman C; Bone-Turrentine T; Suzuki K
    Acta Neuropathol; 1995; 89(4):296-304. PubMed ID: 7610760
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 14(3):348-52. PubMed ID: 8896570
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment.
    Liu Y; Hoffmann A; Grinberg A; Westphal H; McDonald MP; Miller KM; Crawley JN; Sandhoff K; Suzuki K; Proia RL
    Proc Natl Acad Sci U S A; 1997 Jul; 94(15):8138-43. PubMed ID: 9223328
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease.
    Yamanaka S; Johnson MD; Grinberg A; Westphal H; Crawley JN; Taniike M; Suzuki K; Proia RL
    Proc Natl Acad Sci U S A; 1994 Oct; 91(21):9975-9. PubMed ID: 7937929
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease.
    Cohen-Tannoudji M; Marchand P; Akli S; Sheardown SA; Puech JP; Kress C; Gressens P; Nassogne MC; Beccari T; Muggleton-Harris AL
    Mamm Genome; 1995 Dec; 6(12):844-9. PubMed ID: 8747922
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.
    Guetta E; Peleg L
    Methods Mol Biol; 2008; 444():147-59. PubMed ID: 18425478
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Therapeutic evaluation of GM2 gangliosidoses by ELISA using anti-GM2 ganglioside antibodies.
    Tsuji D; Higashine Y; Matsuoka K; Sakuraba H; Itoh K
    Clin Chim Acta; 2007 Mar; 378(1-2):38-41. PubMed ID: 17196574
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases.
    Phaneuf D; Wakamatsu N; Huang JQ; Borowski A; Peterson AC; Fortunato SR; Ritter G; Igdoura SA; Morales CR; Benoit G; Akerman BR; Leclerc D; Hanai N; Marth JD; Trasler JM; Gravel RA
    Hum Mol Genet; 1996 Jan; 5(1):1-14. PubMed ID: 8789434
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Sialidase-mediated depletion of GM2 ganglioside in Tay-Sachs neuroglia cells.
    Igdoura SA; Mertineit C; Trasler JM; Gravel RA
    Hum Mol Genet; 1999 Jun; 8(6):1111-6. PubMed ID: 10332044
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases.
    Huang JQ; Trasler JM; Igdoura S; Michaud J; Hanal N; Gravel RA
    Hum Mol Genet; 1997 Oct; 6(11):1879-85. PubMed ID: 9302266
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 25.