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MeSH Review

Tangier Disease

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Disease relevance of Tangier Disease


High impact information on Tangier Disease


Chemical compound and disease context of Tangier Disease


Biological context of Tangier Disease


Anatomical context of Tangier Disease


Gene context of Tangier Disease


Analytical, diagnostic and therapeutic context of Tangier Disease


  1. Identification of macrophage liver X receptors as inhibitors of atherosclerosis. Tangirala, R.K., Bischoff, E.D., Joseph, S.B., Wagner, B.L., Walczak, R., Laffitte, B.A., Daige, C.L., Thomas, D., Heyman, R.A., Mangelsdorf, D.J., Wang, X., Lusis, A.J., Tontonoz, P., Schulman, I.G. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  2. The role of HDL in reverse cholesterol transport and its disturbances in Tangier disease and HDL deficiency with xanthomas. Schmitz, G., Brüning, T., Williamson, E., Nowicka, G. Eur. Heart J. (1990) [Pubmed]
  3. The heart in Tangier disease. Severe coronary atherosclerosis with near absence of high-density lipoprotein cholesterol. Mautner, S.L., Sanchez, J.A., Rader, D.J., Mautner, G.C., Ferrans, V.J., Fredrickson, D.S., Brewer, H.B., Roberts, W.C. Am. J. Clin. Pathol. (1992) [Pubmed]
  4. Endoneurial ATPase activity in Tangier disease and other peripheral neuropathies. Sutherland, W.H., Pollock, M. Muscle Nerve (1984) [Pubmed]
  5. Diagnosis of neurometabolic disorders by examination of skin biopsies and lymphocytes. Dolman, C.L. Seminars in diagnostic pathology. (1984) [Pubmed]
  6. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Brooks-Wilson, A., Marcil, M., Clee, S.M., Zhang, L.H., Roomp, K., van Dam, M., Yu, L., Brewer, C., Collins, J.A., Molhuizen, H.O., Loubser, O., Ouelette, B.F., Fichter, K., Ashbourne-Excoffon, K.J., Sensen, C.W., Scherer, S., Mott, S., Denis, M., Martindale, D., Frohlich, J., Morgan, K., Koop, B., Pimstone, S., Kastelein, J.J., Genest, J., Hayden, M.R. Nat. Genet. (1999) [Pubmed]
  7. Apoprotein A-I synthesis in normal intestinal mucosa and in Tangier disease. Glickman, R.M., Green, P.H., Lees, R.S., Tall, A. N. Engl. J. Med. (1978) [Pubmed]
  8. ATP-binding cassette A1 protein and HDL homeostasis. Owen, J.S., Mulcahy, J.V. Atherosclerosis. Supplements. (2002) [Pubmed]
  9. Targeted inactivation of hepatic Abca1 causes profound hypoalphalipoproteinemia and kidney hypercatabolism of apoA-I. Timmins, J.M., Lee, J.Y., Boudyguina, E., Kluckman, K.D., Brunham, L.R., Mulya, A., Gebre, A.K., Coutinho, J.M., Colvin, P.L., Smith, T.L., Hayden, M.R., Maeda, N., Parks, J.S. J. Clin. Invest. (2005) [Pubmed]
  10. A PEST sequence in ABCA1 regulates degradation by calpain protease and stabilization of ABCA1 by apoA-I. Wang, N., Chen, W., Linsel-Nitschke, P., Martinez, L.O., Agerholm-Larsen, B., Silver, D.L., Tall, A.R. J. Clin. Invest. (2003) [Pubmed]
  11. Tangier disease as a test of the reverse cholesterol transport hypothesis. Tall, A.R., Wang, N. J. Clin. Invest. (2000) [Pubmed]
  12. Defective regulation of phosphatidylcholine-specific phospholipases C and D in a kindred with Tangier disease. Evidence for the involvement of phosphatidylcholine breakdown in HDL-mediated cholesterol efflux mechanisms. Walter, M., Reinecke, H., Gerdes, U., Nofer, J.R., Höbbel, G., Seedorf, U., Assmann, G. J. Clin. Invest. (1996) [Pubmed]
  13. The degradation of platelet-activating factor in the plasma of a patient with familial high density lipoprotein deficiency (Tangier disease). Pritchard, P.H., Chonn, A., Yeung, C.C. Blood (1985) [Pubmed]
  14. Conformation of apolipoprotein B-100 in the low density lipoproteins of tangier disease. Identification of localized conformational response to triglyceride content. Kunitake, S.T., Young, S.G., Chen, G.C., Pullinger, C.R., Zhu, S., Pease, R.J., Scott, J., Hass, P., Schilling, J., Kane, J.P. J. Biol. Chem. (1990) [Pubmed]
  15. Cellular localization and trafficking of the human ABCA1 transporter. Neufeld, E.B., Remaley, A.T., Demosky, S.J., Stonik, J.A., Cooney, A.M., Comly, M., Dwyer, N.K., Zhang, M., Blanchette-Mackie, J., Santamarina-Fojo, S., Brewer, H.B. J. Biol. Chem. (2001) [Pubmed]
  16. Characterization of apolipoprotein A-I- and A-II-containing lipoproteins in a new case of high density lipoprotein deficiency resembling Tangier disease and their effects on intracellular cholesterol efflux. Cheung, M.C., Mendez, A.J., Wolf, A.C., Knopp, R.H. J. Clin. Invest. (1993) [Pubmed]
  17. Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindred. Remaley, A.T., Rust, S., Rosier, M., Knapper, C., Naudin, L., Broccardo, C., Peterson, K.M., Koch, C., Arnould, I., Prades, C., Duverger, N., Funke, H., Assman, G., Dinger, M., Dean, M., Chimini, G., Santamarina-Fojo, S., Fredrickson, D.S., Denefle, P., Brewer, H.B. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  18. Apolipoprotein A-I activates cellular cAMP signaling through the ABCA1 transporter. Haidar, B., Denis, M., Marcil, M., Krimbou, L., Genest, J. J. Biol. Chem. (2004) [Pubmed]
  19. The ABCA1 transporter modulates late endocytic trafficking: insights from the correction of the genetic defect in Tangier disease. Neufeld, E.B., Stonik, J.A., Demosky, S.J., Knapper, C.L., Combs, C.A., Cooney, A., Comly, M., Dwyer, N., Blanchette-Mackie, J., Remaley, A.T., Santamarina-Fojo, S., Brewer, H.B. J. Biol. Chem. (2004) [Pubmed]
  20. The correlation of ATP-binding cassette 1 mRNA levels with cholesterol efflux from various cell lines. Bortnick, A.E., Rothblat, G.H., Stoudt, G., Hoppe, K.L., Royer, L.J., McNeish, J., Francone, O.L. J. Biol. Chem. (2000) [Pubmed]
  21. The establishment of telomerase-immortalized Tangier disease cell lines indicates the existence of an apolipoprotein A-I-inducible but ABCA1-independent cholesterol efflux pathway. Walter, M., Forsyth, N.R., Wright, W.E., Shay, J.W., Roth, M.G. J. Biol. Chem. (2004) [Pubmed]
  22. Generation of pre-beta 1-HDL and conversion into alpha-HDL. Evidence for disturbed HDL conversion in Tangier disease. Huang, Y., von Eckardstein, A., Wu, S., Langer, C., Assmann, G. Arterioscler. Thromb. Vasc. Biol. (1995) [Pubmed]
  23. ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore. Tan, J.H., Low, P.S., Tan, Y.S., Tong, M.C., Saha, N., Yang, H., Heng, C.K. Hum. Genet. (2003) [Pubmed]
  24. The high density lipoprotein- and apolipoprotein A-I-induced mobilization of cellular cholesterol is impaired in fibroblasts from Tangier disease subjects. Walter, M., Gerdes, U., Seedorf, U., Assmann, G. Biochem. Biophys. Res. Commun. (1994) [Pubmed]
  25. Expression of the ATP-binding cassette transporter gene ABCG1 (ABC8) in Tangier disease. Lorkowski, S., Kratz, M., Wenner, C., Schmidt, R., Weitkamp, B., Fobker, M., Reinhardt, J., Rauterberg, J., Galinski, E.A., Cullen, P. Biochem. Biophys. Res. Commun. (2001) [Pubmed]
  26. Cholesterol esterification by lecithin-cholesterol acyltransferase in A-I-free plasma. Cheung, M.C., Wang, D.B., Lum, K.D., Albers, J.J. Biochim. Biophys. Acta (1988) [Pubmed]
  27. ATP-binding cassette transporter A1 mediates cellular secretion of alpha-tocopherol. Oram, J.F., Vaughan, A.M., Stocker, R. J. Biol. Chem. (2001) [Pubmed]
  28. Membrane topology of the ATP binding cassette transporter ABCR and its relationship to ABC1 and related ABCA transporters: identification of N-linked glycosylation sites. Bungert, S., Molday, L.L., Molday, R.S. J. Biol. Chem. (2001) [Pubmed]
  29. Interferon-gamma induces downregulation of Tangier disease gene (ATP-binding-cassette transporter 1) in macrophage-derived foam cells. Panousis, C.G., Zuckerman, S.H. Arterioscler. Thromb. Vasc. Biol. (2000) [Pubmed]
  30. Abnormal concentration and anomalous distribution of apolipoprotein A-I in Tangier disease. Henderson, L.O., Herbert, P.N., Fredrickson, D.S., Heinen, R.J., Easterling, J.C. Metab. Clin. Exp. (1978) [Pubmed]
  31. Restriction enzyme analysis of the apolipoprotein A-I gene in fish eye disease and Tangier disease. Rees, A., Stocks, J., Schoulders, C., Carlson, L.A., Baralle, F.E., Galton, D.J. Acta medica Scandinavica. (1984) [Pubmed]
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