These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

457 related articles for article (PubMed ID: 12662933)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Identification of an active acidic residue in the catalytic site of beta-hexosaminidase.
    Tse R; Vavougios G; Hou Y; Mahuran DJ
    Biochemistry; 1996 Jun; 35(23):7599-607. PubMed ID: 8652542
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of candidate active site residues in lysosomal beta-hexosaminidase A.
    Fernandes MJ; Yew S; Leclerc D; Henrissat B; Vorgias CE; Gravel RA; Hechtman P; Kaplan F
    J Biol Chem; 1997 Jan; 272(2):814-20. PubMed ID: 8995368
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease.
    Maier T; Strater N; Schuette CG; Klingenstein R; Sandhoff K; Saenger W
    J Mol Biol; 2003 May; 328(3):669-81. PubMed ID: 12706724
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
    Norflus F; Yamanaka S; Proia RL
    DNA Cell Biol; 1996 Feb; 15(2):89-97. PubMed ID: 8634145
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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; 6(12):e29074. PubMed ID: 22205997
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease.
    McInnes B; Brown CA; Mahuran DJ
    Biochim Biophys Acta; 1992 Apr; 1138(4):315-7. PubMed ID: 1532910
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Epstein-Barr virus transformed lymphoid cell lines as a new model system in culture for the study of GM2-gangliosidoses: Tay-Sachs and Sandhoff diseases.
    Maret A; Salvayre R; Negre A; Bes JC; Douste-Blazy L
    Biol Cell; 1985; 53(3):293-6. PubMed ID: 2990625
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. [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]  

  • 18. 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]  

  • 19. A new form of residual hexosaminidase activity in infantile Tay Sachs disease fibroblasts.
    Hechtman P; Khoo K; Isaacs C
    Clin Genet; 1983 Sep; 24(3):206-15. PubMed ID: 6226462
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 23.