نتایج جستجو برای: sandhoff disease

تعداد نتایج: 1490121  

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1990
S Morimoto Y Yamamoto J S O'Brien Y Kishimoto

Saposins (A, B, C, and D) are small glycoproteins required for the hydrolysis of sphingolipids by specific lysosomal hydrolases. Concentrations of these saposins in brain, liver, and spleen from normal humans as well as patients with lysosomal storage disease were determined. A quantitative HPLC method was used for saposin A, C, and D and a stimulation assay was used for saposin B. In normal ti...

2013
Yasuhiro Ogawa Makoto Tanaka Miho Tanabe Toshihiro Suzuki Tadayasu Togawa Tomoko Fukushige Takuro Kanekura Hitoshi Sakuraba Kazuhiko Oishi

Sandhoff disease (SD) is a glycosphingolipid storage disease that arises from mutations in the Hexb gene and the resultant deficiency in β-hexosaminidase activity. This deficiency results in aberrant lysosomal accumulation of the ganglioside GM2 and related glycolipids, and progressive deterioration of the central nervous system. Dysfunctional glycolipid storage causes severe neurodegeneration ...

Journal: :Journal of neuroscience research 2006
Christine A Denny Julie L Kasperzyk Kristen N Gorham Roderick T Bronson Thomas N Seyfried

Caloric restriction (CR), which improves health and increases longevity, was studied as a therapy in a hexosaminidase beta knockout mouse model of Sandhoff disease (SD), an incurable neurodegenerative disease involving accumulation of brain ganglioside GM2 and asialo-GM2 (GA2). Adult mice were fed a rodent chow diet either ad libitum (AL) or restricted to reduce body weight by 15-18% (CR). Alth...

Journal: :Biochemical Society transactions 1992
K Fredrikson C Larsson

13961400 8. Quiroga, S., Caputto, B. I,. & Caputto, R. (1984) J. Neurosci. Res. 12,269-273 9. Conzelmann, E. & Sandhoff, K. (1979) HoppeSeyler’s Z. Physiol. Chem. 360, 1837-1849 10. Caputto, H. I,., Nores, G. A., Cemborain, H. N. & Caputto, R. (1982) Brain Res. 245,231-238 11. Chatterjee, S., Clarke, K. S. & Kwiterovich Jr., 1’. 0 . (1986) J. Hiol. Chem. 261, 13474-13479 12. Chatterjee, S., Gho...

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