Niemann-Pick disease type C: An update

Author:

Vanier M. T.,Pentchev P.,Rodriguez-Lafrasse C.,Rousson R.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference44 articles.

1. Argoff, C. E., Kaneski, C. R., Blanchette-Mackie, E. J., Comly, M., Dwyer, N. K., Brown, A., Brady, R. O. and Pentchev, P. G. Type C Niemann-Pick disease: documentation of abnormal LDL processing in lymphocytes.Biochem. Biophys. Res. Commun. 171 (1990) 38–45

2. Argoff, C. E., Comly, M. E., Blanchette-Mackie, J., Kruth, H. S., Pye, H. T., Goldin, E., Kaneski, C., Vanier, M. T., Brady, R. O. and Pentchev, P. Type C Niemann-Pick disease: Cellular uncoupling of cholesterol homeostasis is linked to the severity of disruption in the intracellular transport of exogenously derived cholesterol.Biochim. Biophys. Acta 1906 (1991) (in press)

3. Blanchette-Mackie, E. J., Dwyer, N. K., Amende, L. M., Kruth, H. S., Butler, J. D., Sokol, J., Comly, M. E., Vanier, M. T., August, J. T., Brady, R. O. and Pentchev, P. G. Type C Niemann-Pick disease: low-density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes.Proc. Natl. Acad. Sci. USA 85 (1988) 8022–8026

4. Brady, R. O., Sphingomyelin lipidosis: Niemann-Pick disease. In: Stanbury, J. B., Wyngaarden, J. B., Fredrickson, D. S., Goldstein, J. L. and Brown, M. S. (eds.)The Metabolic Basis of Inherited Disease. McGraw-Hill, New York, 1983, pp. 834–841

5. Butler, J. D., Comly, M. E., Kruth, H. S., Vanier, M. T., Filling Katz, M., Fink, J., Barton, N., Weintroub, H., Quirk, J., Tokoro, T., Marshall, D. C., Brady, R. O. and Pentchev, P. Niemann-Pick variant disorders: comparison of errors of cellular cholesterol homeostasis in group D and group C fibroblasts.Proc. Natl. Acad. Sci. USA 84 (1987) 556–560

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