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MeSH Review

Cholesterol Ester Storage Disease

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Disease relevance of Cholesterol Ester Storage Disease


High impact information on Cholesterol Ester Storage Disease


Chemical compound and disease context of Cholesterol Ester Storage Disease


Biological context of Cholesterol Ester Storage Disease


Anatomical context of Cholesterol Ester Storage Disease


  1. Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage. Du, H., Duanmu, M., Witte, D., Grabowski, G.A. Hum. Mol. Genet. (1998) [Pubmed]
  2. Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase -1 exon 8 splice junction mutation. vom Dahl, S., Harzer, K., Rolfs, A., Albrecht, B., Niederau, C., Vogt, C., van Weely, S., Aerts, J., Müller, G., Häussinger, D. J. Hepatol. (1999) [Pubmed]
  3. Pulmonary hypertension in an 18-year-old girl with cholesteryl ester storage disease (CESD). Cagle, P.T., Ferry, G.D., Beaudet, A.L., Hawkins, E.P. Am. J. Med. Genet. (1986) [Pubmed]
  4. Testis - a novel storage site in human cholesteryl ester storage disease. Autopsy report of an adult case with a long-standing subclinical course complicated by accelerated atherosclerosis and liver carcinoma. Elleder, M., Chlumska, A., Ledvinová, J., Poupetová, H. Virchows Arch. (2000) [Pubmed]
  5. Assignment of LIPA, associated with human acid lipase deficiency, to human chromosome 10 and comparative assignment to mouse chromosome 19. Koch, G., Lalley, P.A., McAvoy, M., Shows, T.B. Somatic Cell Genet. (1981) [Pubmed]
  6. A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease. Klima, H., Ullrich, K., Aslanidis, C., Fehringer, P., Lackner, K.J., Schmitz, G. J. Clin. Invest. (1993) [Pubmed]
  7. Suppression of apolipoprotein B production during treatment of cholesteryl ester storage disease with lovastatin. Implications for regulation of apolipoprotein B synthesis. Ginsberg, H.N., Le, N.A., Short, M.P., Ramakrishnan, R., Desnick, R.J. J. Clin. Invest. (1987) [Pubmed]
  8. A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease. Pagani, F., Zagato, L., Merati, G., Paone, G., Gridelli, B., Maier, J.A. Hum. Mol. Genet. (1994) [Pubmed]
  9. Restoration of a regulatory response to low density lipoprotein in acid lipase-deficient human fibroblasts. Brown, M.S., Sobhani, M.K., Brunschede, G.Y., Goldstein, J.L. J. Biol. Chem. (1976) [Pubmed]
  10. Cholesteryl ester storage disease: complex molecular effects of chronic lovastatin therapy. Levy, R., Ostlund, R.E., Schonfeld, G., Wong, P., Semenkovich, C.F. J. Lipid Res. (1992) [Pubmed]
  11. Cholesteryl lignocerate hydrolysis in adrenoleukodystrophy. Michels, V.V., Beaudet, A.L. Pediatr. Res. (1980) [Pubmed]
  12. Cholesteryl ester storage disease with secondary lecithin cholesterol acyl transferase deficiency. Van Erum, S., Gnat, D., Finne, C., Blum, D., Vanhelleput, C., Vamos, E., Vertongen, F. J. Inherit. Metab. Dis. (1988) [Pubmed]
  13. Asymptomatic cholesteryl ester storage disease in an adult controlled with simvastatin. Iverson, S.A., Cairns, S.R., Ward, C.P., Fensom, A.H. Ann. Clin. Biochem. (1997) [Pubmed]
  14. Genetic variation of lysosomal acid lipase. Cortner, J.A., Coates, P.M., Swoboda, E., Schnatz, J.D. Pediatr. Res. (1976) [Pubmed]
  15. Enzyme replacement therapy in fibroblasts from a patient with cholesteryl ester storage disease. Poznansky, M.J., Hutchison, S.K., Davis, P.J. FASEB J. (1989) [Pubmed]
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