The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Wolman Disease

Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of Wolman Disease


High impact information on Wolman Disease


Chemical compound and disease context of Wolman Disease

  • Acid lipase cross-reacting material in Wolman disease and cholesterol ester storage disease [4].
  • Accumulation of glyceryl ether lipids in Wolman's disease [8].
  • The sources and the catabolic pathways of cytoplasmic pools of triacylglycerols and cholesteryl esters have been comparatively investigated in cultured fibroblasts from normal subjects and from patients affected with neutral lipid storage disease (NLSD) and Wolman disease (WD) [9].
  • Wolman's disease cells hydrolyzed CL at 10-22% and triolein at 11-19% the rate of normal cells; cholesterol ester storage disease cells hydrolyzed these substrates at 28-49 and 30-47% the normal rate, respectively [10].
  • The experiments reported here allowed us to compare the metabolism of neutral lipids from extracellular origin (lipoproteins) and endogenous origin (triacylglycerol biosynthesis induced by feeding cells with high levels of free fatty acid) in normal and acid-lipase-deficient fibroblasts (Wolman's disease) [11].

Biological context of Wolman Disease

  • In order to elucidate the underlying molecular defects in Wolman disease, we have characterized the hLAL gene in two female Wolman patients of German and Turkish origin by SSCP and DNA sequence analysis [12].

Anatomical context of Wolman Disease


Gene context of Wolman Disease


Analytical, diagnostic and therapeutic context of Wolman Disease


  1. Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency. Hoeg, J.M., Demosky, S.J., Pescovitz, O.H., Brewer, H.B. Am. J. Hum. Genet. (1984) [Pubmed]
  2. Phenotypic correction of lipid storage and growth arrest in wolman disease fibroblasts by gene transfer of lysosomal acid lipase. Tietge, U.J., Sun, G., Czarnecki, S., Yu, Q., Lohse, P., Du, H., Grabowski, G.A., Glick, J.M., Rader, D.J. Hum. Gene Ther. (2001) [Pubmed]
  3. The role of mannosylated enzyme and the mannose receptor in enzyme replacement therapy. Du, H., Levine, M., Ganesa, C., Witte, D.P., Cole, E.S., Grabowski, G.A. Am. J. Hum. Genet. (2005) [Pubmed]
  4. Acid lipase cross-reacting material in Wolman disease and cholesterol ester storage disease. Burton, B.K., Reed, S.P. Am. J. Hum. Genet. (1981) [Pubmed]
  5. Tissue and cellular specific expression of murine lysosomal acid lipase mRNA and protein. Du, H., Witte, D.P., Grabowski, G.A. J. Lipid Res. (1996) [Pubmed]
  6. Cloning of rat lysosomal acid lipase cDNA and identification of the mutation in the rat model of Wolman's disease. Nakagawa, H., Matsubara, S., Kuriyama, M., Yoshidome, H., Fujiyama, J., Yoshida, H., Osame, M. J. Lipid Res. (1995) [Pubmed]
  7. Use of pyrenemethyl laurate for fluorescence-based determination of lipase activity in intact living lymphoblastoid cells and for the diagnosis of acid lipase deficiency. Nègre-Salvayre, A., Dagan, A., Gatt, S., Salvayre, R. Biochem. J. (1993) [Pubmed]
  8. Accumulation of glyceryl ether lipids in Wolman's disease. Lin, H.J., Lie Ken Jie, M.S., Ho, F.C. J. Lipid Res. (1976) [Pubmed]
  9. Cytoplasmic triacylglycerols and cholesteryl esters are degraded in two separate catabolic pools in cultured human fibroblasts. Hilaire, N., Nègre-Salvayre, A., Salvayre, R. FEBS Lett. (1993) [Pubmed]
  10. Cholesterol ester and triglyceride metabolism in intact fibroblasts from patients with Wolman's disease and cholesterol ester storage disease. Burton, B.K., Remy, W.T., Rayman, L. Pediatr. Res. (1984) [Pubmed]
  11. Extracellular origin of the lipid lysosomal storage in cultured fibroblasts from Wolman's disease. Salvayre, R., Negre, A., Maret, A., Radom, J., Douste-Blazy, L. Eur. J. Biochem. (1987) [Pubmed]
  12. Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease. Lohse, P., Maas, S., Sewell, A.C., van Diggelen OP, n.u.l.l., Seidel, D. J. Lipid Res. (1999) [Pubmed]
  13. Muscular involvement in lysosomal acid lipase deficiency in rats. Honda, Y., Kuriyama, M., Higuchi, I., Fujiyama, J., Yoshida, H., Osame, M. J. Neurol. Sci. (1992) [Pubmed]
  14. Enzyme studies on Epstein-Barr virus-transformed lymphoid cell lines from Wolman's disease. Lipases, cholesterol esterase and 4-methylumbelliferyl acyl ester hydrolases. Negre, A., Salvayre, R., Durand, P., Lenoir, G., Douste-Blazy, L. Biochim. Biophys. Acta (1984) [Pubmed]
  15. A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease. Fujiyama, J., Sakuraba, H., Kuriyama, M., Fujita, T., Nagata, K., Nakagawa, H., Osame, M. Hum. Mutat. (1996) [Pubmed]
  16. Gene expression profiling of the long-term adaptive response to hypoxia in the gills of adult zebrafish. van der Meer, D.L., van den Thillart, G.E., Witte, F., de Bakker, M.A., Besser, J., Richardson, M.K., Spaink, H.P., Leito, J.T., Bagowski, C.P. Am. J. Physiol. Regul. Integr. Comp. Physiol. (2005) [Pubmed]
  17. Normal fluorine-18-labelled 2-fluoro-2-deoxyglucose positron emission tomography and magnetic resonance imaging of the brain in Wolman disease. al-Essa, M.A., Bakheet, S.M., Patay, Z.J., Powe, J.E., Ozand, P.T. J. Inherit. Metab. Dis. (1999) [Pubmed]
WikiGenes - Universities