نتایج جستجو برای: sandhoff disease
تعداد نتایج: 1490121 فیلتر نتایج به سال:
Lysosomal storage diseases (LSDs) often manifest with severe systemic and central nervous system (CNS) symptoms. The existing treatment options are limited and have no or only modest efficacy against neurological manifestations of disease. We demonstrate that recombinant human heat shock protein 70 (HSP70) improves the binding of several sphingolipid-degrading enzymes to their essential cofacto...
Sandhoff disease is caused by mutations affecting the beta subunit of lysosomal beta-hexosaminidase (EC 3.2.1.52) and displays a wide spectrum of clinical phenotypes. We report a 57-year-old patient with a very mild phenotype, although residual hexosaminidase A activity in his cultured fibroblasts was less than 3% of normal activity, a level observed in juvenile onset patients. Northern and Wes...
Tay-Sachs or Sandhoff disease result from mutations in either the evolutionarily related HEXA or HEXB genes encoding respectively, the α- or β-subunits of β-hexosaminidase A (HexA). Of the three Hex isozymes, only HexA can interact with its cofactor, the GM2 activator protein (GM2AP), and hydrolyze GM2 ganglioside. A major impediment to establishing gene or enzyme replacement therapy based on H...
Tay-Sachs and Sandhoff diseases are lysosomal storage disorders characterized by the absence of beta-hexosaminidase activity and the accumulation of GM2 ganglioside in neurons. In each disorder, a virtually identical course of neurodegeneration begins in infancy and leads to demise generally by 4-6 years of age. Through serial analysis of gene expression (SAGE), we determined gene expression pr...
Published, JBC Papers in Press, October 17, 2005, DOI 10.1074/jbc.R500015200 Thomas Kolter, Florian Winau, Ulrich E. Schaible, Matthias Leippe, and Konrad Sandhoff From the Kekulé-Institut für Organische Chemie und Biochemie, D-53121 Bonn, Germany, the Max-Planck-Institut für Infektionsbiologie, Abteilung Immunologie, D-10117 Berlin, Germany, and the Zoologisches Institut der Universität Kiel, ...
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