BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

303 related articles for article (PubMed ID: 14724290)

  • 1. Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients.
    Tropak MB; Reid SP; Guiral M; Withers SG; Mahuran D
    J Biol Chem; 2004 Apr; 279(14):13478-87. PubMed ID: 14724290
    [TBL] [Abstract][Full Text] [Related]  

  • 2. High-throughput screening for human lysosomal beta-N-Acetyl hexosaminidase inhibitors acting as pharmacological chaperones.
    Tropak MB; Blanchard JE; Withers SG; Brown ED; Mahuran D
    Chem Biol; 2007 Feb; 14(2):153-64. PubMed ID: 17317569
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Beta-N-acetyl-hexosaminidase--the enzyme of Tay-Sachs and Sandhoff diseases].
    Zwierz K; Juszkiewicz J; Arciuch L; Gindzieński A
    Postepy Biochem; 1992; 38(3):127-32. PubMed ID: 1461844
    [No Abstract]   [Full Text] [Related]  

  • 4. beta-hexosaminidase in cultured normal and mutant human fibroblasts: an immunohistochemical and biochemical investigation.
    Elsafi ME; Elbashir MI; Hultberg B; Isaksson A; Hägerstrand I; Stenram U
    Scand J Clin Lab Invest; 1991 Dec; 51(8):711-4. PubMed ID: 1839650
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.
    Hou Y; McInnes B; Hinek A; Karpati G; Mahuran D
    J Biol Chem; 1998 Aug; 273(33):21386-92. PubMed ID: 9694901
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards.
    Chamoles NA; Blanco M; Gaggioli D; Casentini C
    Clin Chim Acta; 2002 Apr; 318(1-2):133-7. PubMed ID: 11880123
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 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. Design, synthesis, and biological evaluation of enantiomeric beta-N-acetylhexosaminidase inhibitors LABNAc and DABNAc as potential agents against Tay-Sachs and Sandhoff disease.
    Rountree JS; Butters TD; Wormald MR; Boomkamp SD; Dwek RA; Asano N; Ikeda K; Evinson EL; Nash RJ; Fleet GW
    ChemMedChem; 2009 Mar; 4(3):378-92. PubMed ID: 19145603
    [TBL] [Abstract][Full Text] [Related]  

  • 11. sp
    González-Cuesta M; Herrera-González I; García-Moreno MI; Ashmus RA; Vocadlo DJ; García Fernández JM; Nanba E; Higaki K; Ortiz Mellet C
    J Enzyme Inhib Med Chem; 2022 Dec; 37(1):1364-1374. PubMed ID: 35575117
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease.
    Mark BL; Mahuran DJ; Cherney MM; Zhao D; Knapp S; James MN
    J Mol Biol; 2003 Apr; 327(5):1093-109. PubMed ID: 12662933
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation.
    Dersh D; Iwamoto Y; Argon Y
    Mol Biol Cell; 2016 Dec; 27(24):3813-3827. PubMed ID: 27682588
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Production of recombinant beta-hexosaminidase A, a potential enzyme for replacement therapy for Tay-Sachs and Sandhoff diseases, in the methylotrophic yeast Ogataea minuta.
    Akeboshi H; Chiba Y; Kasahara Y; Takashiba M; Takaoka Y; Ohsawa M; Tajima Y; Kawashima I; Tsuji D; Itoh K; Sakuraba H; Jigami Y
    Appl Environ Microbiol; 2007 Aug; 73(15):4805-12. PubMed ID: 17557860
    [TBL] [Abstract][Full Text] [Related]  

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

  • 17. Lending a helping hand, screening chemical libraries for compounds that enhance beta-hexosaminidase A activity in GM2 gangliosidosis cells.
    Tropak MB; Mahuran D
    FEBS J; 2007 Oct; 274(19):4951-61. PubMed ID: 17894780
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 8(3):e57908. PubMed ID: 23483939
    [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. Characterization of the testis and epididymis in mouse models of human Tay Sachs and Sandhoff diseases and partial determination of accumulated gangliosides.
    Trasler J; Saberi F; Somani IH; Adamali HI; Huang JQ; Fortunato SR; Ritter G; Gu M; Aebersold R; Gravel RA; Hermo L
    Endocrinology; 1998 Jul; 139(7):3280-8. PubMed ID: 9645704
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.