Gene Review:
LIPA - lipase A, lysosomal acid, cholesterol...
Homo sapiens
Synonyms:
Acid cholesteryl ester hydrolase, CESD, Cholesteryl esterase, LAL, Lipase A, ...
Carter,
Tadiboyina,
Liu,
Miskie,
Wang,
Hegele,
Du,
Heur,
Witte,
Ameis,
Grabowski,
Sánchez-Quijano,
Abad,
Torronteras,
Rey,
Pineda,
Leal,
Macias,
Lissen,
Riemenschneider,
Mahmoodzadeh,
Eisele,
Klopp,
Schwarz,
Wagenpfeil,
Diehl,
Mueller,
Foerstl,
Illig,
Kurz,
- 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)
- 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)
- Resistance profiles to antiretroviral drugs in HIV-1 drug-naive patients in Argentina. Kijak, G.H., Pampuro, S.E., Avila, M.M., Zala, C., Cahn, P., Wainberg, M.A., Salomón, H. Antivir. Ther. (Lond.) (2001)
- Lysosomal acid lipase deficiency: correction of lipid storage by adenovirus-mediated gene transfer in mice. Du, H., Heur, M., Witte, D.P., Ameis, D., Grabowski, G.A. Hum. Gene Ther. (2002)
- Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression. Sheriff, S., Du, H., Grabowski, G.A. J. Biol. Chem. (1995)
- Evaluation of buprenorphine maintenance treatment in a French cohort of HIV-infected injecting drug users. Carrieri, M.P., Rey, D., Loundou, A., Lepeu, G., Sobel, A., Obadia, Y. Drug and alcohol dependence. (2003)
- BRCA1/2 testing in hereditary breast and ovarian cancer families: effectiveness of problem-solving training as a counseling intervention. McInerney-Leo, A., Biesecker, B.B., Hadley, D.W., Kase, R.G., Giambarresi, T.R., Johnson, E., Lerman, C., Struewing, J.P. Am. J. Med. Genet. A (2004)
- 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)
- 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)
- 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)
- A novel variant of lysosomal acid lipase (Leu336-->Pro) associated with acid lipase deficiency and cholesterol ester storage disease. Seedorf, U., Wiebusch, H., Muntoni, S., Christensen, N.C., Skovby, F., Nickel, V., Roskos, M., Funke, H., Ose, L., Assmann, G. Arterioscler. Thromb. Vasc. Biol. (1995)
- Cysteine residues in human lysosomal acid lipase are involved in selective cholesteryl esterase activity. Pagani, F., Pariyarath, R., Stuani, C., Garcia, R., Baralle, F.E. Biochem. J. (1997)
- Retention of cytokine-inducing substances inside high-flux dialyzers. Lufft, V., Mahiout, A., Shaldon, S., Koch, K.M., Schindler, R. Blood Purif. (1996)
- The short-term effects of treatment of chronic periodontitis on circulating levels of endotoxin, C-reactive protein, tumor necrosis factor-alpha, and interleukin-6. Ide, M., Jagdev, D., Coward, P.Y., Crook, M., Barclay, G.R., Wilson, R.F. J. Periodontol. (2004)
- Tri- and tetranucleotide repeat polymorphism in the LIPA gene. Aslanidis, C., Lackner, K.J., Schmitz, G. Hum. Mol. Genet. (1994)
- Unexpected high prevalence of hepatitis C virus genotype 4 in Southern Spain. Sánchez-Quijano, A., Abad, M.A., Torronteras, R., Rey, C., Pineda, J.A., Leal, M., Macias, J., Lissen, E. J. Hepatol. (1997)
- Association analysis of genes involved in cholesterol metabolism located within the linkage region on chromosome 10 and Alzheimer's disease. Riemenschneider, M., Mahmoodzadeh, S., Eisele, T., Klopp, N., Schwarz, S., Wagenpfeil, S., Diehl, J., Mueller, U., Foerstl, H., Illig, T., Kurz, A. Neurobiol. Aging (2004)
- Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals. Ries, S., Büchler, C., Schindler, G., Aslanidis, C., Ameis, D., Gasche, C., Jung, N., Schambach, A., Fehringer, P., Vanier, M.T., Belli, D.C., Greten, H., Schmitz, G. Hum. Mutat. (1998)
- Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase. Ameis, D., Merkel, M., Eckerskorn, C., Greten, H. Eur. J. Biochem. (1994)
- Prostacyclin modulates cholesteryl ester hydrolytic activity by its effect on cyclic adenosine monophosphate in rabbit aortic smooth muscle cells. Hajjar, D.P., Weksler, B.B., Falcone, D.J., Hefton, J.M., Tack-Goldman, K., Minick, C.R. J. Clin. Invest. (1982)
- Convergence of genes implicated in Alzheimer's disease on the cerebral cholesterol shuttle: APP, cholesterol, lipoproteins, and atherosclerosis. Carter, C.J. Neurochem. Int. (2007)
- Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease. Tadiboyina, V.T., Liu, D.M., Miskie, B.A., Wang, J., Hegele, R.A. Lipids in health and disease [electronic resource]. (2005)
- Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD). Muntoni, S., Wiebusch, H., Funke, H., Ros, E., Seedorf, U., Assmann, G. Hum. Genet. (1995)
- Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease. Du, H., Sheriff, S., Bezerra, J., Leonova, T., Grabowski, G.A. Mol. Genet. Metab. (1998)
- Perilipin: unique proteins associated with intracellular neutral lipid droplets in adipocytes and steroidogenic cells. Londos, C., Brasaemle, D.L., Gruia-Gray, J., Servetnick, D.A., Schultz, C.J., Levin, D.M., Kimmel, A.R. Biochem. Soc. Trans. (1995)
- Acid cholesteryl ester hydrolase activity of mononuclear leukocytes in patients with non-insulin-dependent diabetes mellitus: studies before and after treatment of diabetes. Onuma, T., Tsutsui, M., Boku, A., Yanada, A., Ochiai, S., Takebe, K. Atherosclerosis (1992)
- Production of bacteriocin-like inhibitory compounds by human fecal Bifidobacterium strains. Collado, M.C., Hernández, M., Sanz, Y. J. Food Prot. (2005)
- Hepatitis C plasma viral load is associated with HCV genotype but not with HIV coinfection. Berger, A., von Depka Prondzinski, M., Doerr, H.W., Rabenau, H., Weber, B. J. Med. Virol. (1996)
- 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)
- Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease. Pagani, F., Garcia, R., Pariyarath, R., Stuani, C., Gridelli, B., Paone, G., Baralle, F.E. Hum. Mol. Genet. (1996)
- Neurocognitive performance enhanced by highly active antiretroviral therapy in HIV-infected women. Cohen, R.A., Boland, R., Paul, R., Tashima, K.T., Schoenbaum, E.E., Celentano, D.D., Schuman, P., Smith, D.K., Carpenter, C.C. AIDS (2001)