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MeSH Review

Niemann-Pick Diseases

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Disease relevance of Niemann-Pick Diseases


High impact information on Niemann-Pick Diseases


Chemical compound and disease context of Niemann-Pick Diseases


Biological context of Niemann-Pick Diseases


Anatomical context of Niemann-Pick Diseases


Gene context of Niemann-Pick Diseases


Analytical, diagnostic and therapeutic context of Niemann-Pick Diseases


  1. Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis. Viana, M.B., Giugliani, R., Leite, V.H., Barth, M.L., Lekhwani, C., Slade, C.M., Fensom, A. J. Med. Genet. (1990) [Pubmed]
  2. Hematopoietic stem cell gene therapy for Niemann-Pick disease and other lysosomal storage diseases. Schuchman, E.H. Chem. Phys. Lipids (1999) [Pubmed]
  3. High-performance liquid chromatography of lipids for the identification of human metabolic disease. Markello, T.C., Guo, J., Gahl, W.A. Anal. Biochem. (1991) [Pubmed]
  4. Comparison of effects of U18666A and enantiomeric U18666A on sterol synthesis and induction of apoptosis. Cenedella, R.J., Sexton, P.S., Krishnan, K., Covey, D.F. Lipids (2005) [Pubmed]
  5. Intracellular cholesterol and phospholipid trafficking: comparable mechanisms in macrophages and neuronal cells. Schmitz, G., Orsó, E. Neurochem. Res. (2001) [Pubmed]
  6. Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. Horinouchi, K., Erlich, S., Perl, D.P., Ferlinz, K., Bisgaier, C.L., Sandhoff, K., Desnick, R.J., Stewart, C.L., Schuchman, E.H. Nat. Genet. (1995) [Pubmed]
  7. The intracellular transport of low density lipoprotein-derived cholesterol is defective in Niemann-Pick type C fibroblasts. Liscum, L., Ruggiero, R.M., Faust, J.R. J. Cell Biol. (1989) [Pubmed]
  8. The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1. Greer, W.L., Riddell, D.C., Gillan, T.L., Girouard, G.S., Sparrow, S.M., Byers, D.M., Dobson, M.J., Neumann, P.E. Am. J. Hum. Genet. (1998) [Pubmed]
  9. Sphingosylphosphocholine, a signaling molecule which accumulates in Niemann-Pick disease type A, stimulates DNA-binding activity of the transcription activator protein AP-1. Berger, A., Rosenthal, D., Spiegel, S. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  10. Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C. Lachmann, R.H., te Vruchte, D., Lloyd-Evans, E., Reinkensmeier, G., Sillence, D.J., Fernandez-Guillen, L., Dwek, R.A., Butters, T.D., Cox, T.M., Platt, F.M. Neurobiol. Dis. (2004) [Pubmed]
  11. Adult Niemann-Pick disease with sea-blue histiocytes in the spleen. Dawson, P.J., Dawson, G. Hum. Pathol. (1982) [Pubmed]
  12. Ceramide hexosides in Niemann-Pick disease brain. Greenbaum, M., Hoffman, L.M., Schneck, L. J. Neurol. (1976) [Pubmed]
  13. Chemical synthesis of the 3-sulfooxy-7-N-acetylglucosaminyl-24-amidated conjugates of 3beta,7beta-dihydroxy-5-cholen-24-oic acid, and related compounds: unusual, major metabolites of bile acid in a patient with Niemann-Pick disease type C1. Iida, T., Kakiyama, G., Hibiya, Y., Miyata, S., Inoue, T., Ohno, K., Goto, T., Mano, N., Goto, J., Nambara, T., Hofmann, A.F. Steroids (2006) [Pubmed]
  14. A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. Pentchev, P.G., Comly, M.E., Kruth, H.S., Vanier, M.T., Wenger, D.A., Patel, S., Brady, R.O. Proc. Natl. Acad. Sci. U.S.A. (1985) [Pubmed]
  15. Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease. Ferlinz, K., Hurwitz, R., Weiler, M., Suzuki, K., Sandhoff, K., Vanier, M.T. Am. J. Hum. Genet. (1995) [Pubmed]
  16. Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients. Levran, O., Desnick, R.J., Schuchman, E.H. Blood (1992) [Pubmed]
  17. Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms. Takahashi, T., Suchi, M., Desnick, R.J., Takada, G., Schuchman, E.H. J. Biol. Chem. (1992) [Pubmed]
  18. Adult sphingomyelinase deficiency: report of 2 patients who initially presented with psychiatric disorders. Dubois, G., Mussini, J.M., Auclair, M., Battesti, J., Boutry, J.M., Kemeny, J.L., Mazière, J.C., Turpin, J.C., Hauw, J.J. Neurology (1990) [Pubmed]
  19. 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. 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. Proc. Natl. Acad. Sci. U.S.A. (1988) [Pubmed]
  20. Orthotopic liver transplantation in two adults with Niemann-Pick and Gaucher's diseases: implications for the treatment of inherited metabolic disease. Smanik, E.J., Tavill, A.S., Jacobs, G.H., Schafer, I.A., Farquhar, L., Weber, F.L., Mayes, J.T., Schulak, J.A., Petrelli, M., Zirzow, G.C. Hepatology (1993) [Pubmed]
  21. Modulation of subcellular distribution of doxorubicin in multidrug-resistant P388/ADR mouse leukemia cells by the chemosensitizer ((2-isopropyl-1-(4-[3-N-methyl-N-(3,4-dimethoxy-beta- phenethyl)amino]propyloxy)-benzenesulfonyl))indolizine. Jaffrézou, J.P., Levade, T., Chatelain, P., Laurent, G. Cancer Res. (1992) [Pubmed]
  22. CD95 (Fas/APO-1) induces ceramide formation and apoptosis in the absence of a functional acid sphingomyelinase. Cock, J.G., Tepper, A.D., de Vries, E., van Blitterswijk, W.J., Borst, J. J. Biol. Chem. (1998) [Pubmed]
  23. Toward gene therapy for Niemann-Pick disease (NPD): separation of retrovirally corrected and noncorrected NPD fibroblasts using a novel fluorescent sphingomyelin. Dinur, T., Schuchman, E.H., Fibach, E., Dagan, A., Suchi, M., Desnick, R.J., Gatt, S. Hum. Gene Ther. (1992) [Pubmed]
  24. Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1----p15.4. da Veiga Pereira, L., Desnick, R.J., Adler, D.A., Disteche, C.M., Schuchman, E.H. Genomics (1991) [Pubmed]
  25. Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick disease. Brinkman, J., Wijburg, F.A., Hollak, C.E., Groener, J.E., Verhoek, M., Scheij, S., Aten, J., Boot, R.G., Aerts, J.M. J. Inherit. Metab. Dis. (2005) [Pubmed]
  26. Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families. Millat, G., Baïlo, N., Molinero, S., Rodriguez, C., Chikh, K., Vanier, M.T. Mol. Genet. Metab. (2005) [Pubmed]
  27. Altered expression of caveolin-1 and increased cholesterol in detergent insoluble membrane fractions from liver in mice with Niemann-Pick disease type C. Garver, W.S., Erickson, R.P., Wilson, J.M., Colton, T.L., Hossain, G.S., Kozloski, M.A., Heidenreich, R.A. Biochim. Biophys. Acta (1997) [Pubmed]
  28. A C57BL/KsJ mouse model of Niemann-Pick disease (spm) belongs to the same complementation group as the major childhood type of Niemann-Pick disease type C. Akaboshi, S., Yano, T., Miyawaki, S., Ohno, K., Takeshita, K. Hum. Genet. (1997) [Pubmed]
  29. Hematopoietic stem cell gene therapy leads to marked visceral organ improvements and a delayed onset of neurological abnormalities in the acid sphingomyelinase deficient mouse model of Niemann-Pick disease. Miranda, S.R., Erlich, S., Friedrich, V.L., Gatt, S., Schuchman, E.H. Gene Ther. (2000) [Pubmed]
  30. Light and electron microscopic analysis of the central and peripheral nervous systems of acid sphingomyelinase-deficient mice resulting from gene targeting. Kuemmel, T.A., Schroeder, R., Stoffel, W. J. Neuropathol. Exp. Neurol. (1997) [Pubmed]
  31. Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K. Harzer, K., Rolfs, A., Bauer, P., Zschiesche, M., Mengel, E., Backes, J., Kustermann-Kuhn, B., Bruchelt, G., van Diggelen, O.P., Mayrhofer, H., Krägeloh-Mann, I. Neuropediatrics. (2003) [Pubmed]
  32. Molecular cloning of the mouse apolipoprotein D gene and its upregulated expression in Niemann-Pick disease type C mouse model. Yoshida, K., Cleaveland, E.S., Nagle, J.W., French, S., Yaswen, L., Ohshima, T., Brady, R.O., Pentchev, P.G., Kulkarni, A.B. DNA Cell Biol. (1996) [Pubmed]
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