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Sphingolipid storage diseases

Broad screening test for sphingolipid-storage diseases. Lancet 1999 354 901-905. 169. [Pg.1965]

Puri V, Watanabe R, Dominguez M, et al. (1999) Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid-storage diseases. Nat Cell Biol 1 386-388... [Pg.122]

Breakdown of GSL occurs in the lysosomes, and inherited deficiencies of lysosomal hydrolases or of sphin-golipid activator proteins (SAPs, saposins) can give rise to sphingolipid storage diseases. The SAPs are necessary... [Pg.321]

Pagano RE, Puri V, Dominguez M, Marks DL. Membrane traffic in sphingolipid storage diseases. Traffic 1(2000) 807-815. [Pg.383]

Marks, D.L., Pagano, R.E. 2002. Endocytosis and sorting of glycosphingolipids in sphingolipid storage disease. Trends Cell Biol. 12 605-613. [Pg.484]

There are a number of recent reviews of the sphingolipidoses such as those of van Bogaebt et al., 1957 Volk and Spebby, 1959 Stanbuby et al., 1960 Folch-Pi, 1961 Abonson and Volk, 1962 and Folch-Pi and Baueb, 1963. The following selectively document the known sphingolipid storage diseases with newer references and mention briefiy several recent observations. [Pg.159]

The adult form of Gaucher disease (type I) is currently the only sphingolipid storage disease for which a causal therapy is available [33]. The patients are treated with a modified glucocerebrosidase from human placenta or a recombinant sample. The protein carbohydrates contain the targeting information for the mannose receptor on macrophages. [Pg.1575]

Not only the deficiency of a hydrolytic enzyme, but also of other proteins required for sphingolipid degradation can cause a sphingolipid storage disease. Besides deficiencies of activator proteins, this is the case in galactosialidosis. This disease is characterized by the secondary deficiency of P-galactosidase and sialidase activity. The primary defect is due to mutations within the protective protein, which forms a stable complex with the GMl-p-galactosidase and the lysosomal sialidase [47]. [Pg.1578]


See other pages where Sphingolipid storage diseases is mentioned: [Pg.268]    [Pg.577]    [Pg.599]    [Pg.334]    [Pg.346]    [Pg.347]    [Pg.347]    [Pg.377]    [Pg.378]    [Pg.372]    [Pg.392]    [Pg.430]    [Pg.1051]    [Pg.80]    [Pg.82]   
See also in sourсe #XX -- [ Pg.44 , Pg.343 , Pg.344 ]




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