Expression and functional characterization of human lysosomal acid lipase gene (LIPA) mutation responsible for cholesteryl ester storage disease (CESD) phenotype

Protein Expression and Purification

Volumn 110, Issue , 2015, Pages 22-29

  Rajamohan, Francis ^a   Reyes, Allan R ^a   Ruangsiriluk, Wanida ^a   Hoth, Lise R ^a   Han, Seungil ^a   Caspers, Nicole ^a   Tu, Meihua ^a   Ward, Jessica ^a   Kurumbail, Ravi G ^a  

^a PFIZER INC   (United States)

Author keywords

Cholesteryl ester storage disease (CESD); LAL deficiency; Lipid metabolism; Lysosomal acid lipase (LAL); Protein aggregation; Wolman's disease (WD)

Indexed keywords

CHOLESTEROL ESTER; CHOLESTEROL ESTERASE; HYBRID PROTEIN; LIPA PROTEIN, HUMAN; PROTEIN AGGREGATE;

AMINO ACID SEQUENCE; ANIMAL; BACULOVIRIDAE; CHEMICAL STRUCTURE; CHEMISTRY; ENZYMOLOGY; FIBROBLAST; GENE EXPRESSION; GENETICS; GLYCOSYLATION; HUMAN; ISOLATION AND PURIFICATION; KINETICS; LIPID METABOLISM; LYSOSOME; METABOLISM; MOLECULAR CLONING; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PLASMID; SF9 CELL LINE; SPODOPTERA; WOLMAN DISEASE;

AMINO ACID SEQUENCE; ANIMALS; BACULOVIRIDAE; CHOLESTEROL ESTERS; CLONING, MOLECULAR; FIBROBLASTS; GENE EXPRESSION; GLYCOSYLATION; HUMANS; KINETICS; LIPID METABOLISM; LYSOSOMES; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PLASMIDS; PROTEIN AGGREGATES; RECOMBINANT FUSION PROTEINS; SF9 CELLS; SPODOPTERA; STEROL ESTERASE; WOLMAN DISEASE;

EID: 84923633387     PISSN: 10465928     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pep.2014.12.009     Document Type: Article

References (29)

1. J.L. Goldstein, S.E. Dana, J.R. Faust, A.L. Beaudet, and M.S. Brown Role of lysosomal acid lipase in the metabolism of plasma low density lipoprotein. Observations in cultured fibroblasts from a patient with cholesteryl ester storage disease J. Biol. Chem. 250 1975 8487 8495
2. M.S. Brown, P.T. Kovanen, and J.L. Goldstein Regulation of plasma cholesterol by lipoprotein receptors Science 212 1981 628 635
3. G.N. Sando, and L.M. Rosenbaum Human lysosomal acid lipase/cholesteryl ester hydrolase. Purification and properties of the form secreted by fibroblasts in microcarrier culture J. Biol. Chem. 260 1985 15186 15193
4. P. Lohse, P. Lohse, S. Chahrokh-Zadeh, and D. Seidel The acid lipase gene family: three enzymes, one highly conserved gene structure J. Lipid Res. 38 1997 880 891
5. R.A. Anderson, N. Rao, R.S. Byrum, C.B. Rothschild, D.W. Bowden, R. Hayworth, and M. Pettenati In situ localization of the genetic locus encoding the lysosomal acid lipase/cholesteryl esterase (LIPA) deficient in Wolman disease to chromosome 10q23.2-q23.3 Genomics 15 1993 245 247
6. C. Aslanidis, H. Klima, K.J. Lackner, and G. Schmitz Genomic organization of the human lysosomal acid lipase gene (LIPA) Genomics 20 1994 329 331
7. R.A. Anderson, and G.N. Sando Cloning and expression of cDNA encoding human lysosomal acid lipase/cholesteryl ester hydrolase. Similarities to gastric and lingual lipases J. Biol. Chem. 266 1991 22479 22484
8. O. Zschenker, C. Bahr, U.F. Hess, and D. Ameis Systematic mutagenesis of potential glycosylation sites of lysosomal acid lipase J. Biochem. 137 2005 387 394
9. S. Sheriff, H. Du, and G.A. Grabowski Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression J. Biol. Chem. 270 1995 27766 27772
10. A. Roussel, S. Canaan, M.P. Egloff, M. Riviere, L. Dupuis, R. Verger, and C. Cambillau Crystal structure of human gastric lipase and model of lysosomal acid lipase, two lipolytic enzymes of medical interest J. Biol. Chem. 274 1999 16995 17002
11. S.S. Azam, S.W. Abbasi, and S. Tahir Investigation of novel chemical inhibitors of human lysosomal acid lipase: virtual screening and molecular docking studies Comb. Chem. High Throughput Screening 17 2014 473 482
12. S. Saito, K. Ohno, T. Suzuki, and H. Sakuraba Structural bases of Wolman disease and cholesteryl ester storage disease Mol. Genet. Metab. 105 2012 244 248
13. A. Roussel, N. Miled, L. Berti-Dupuis, M. Riviere, S. Spinelli, P. Berna, V. Gruber, R. Verger, and C. Cambillau Crystal structure of the open form of dog gastric lipase in complex with a phosphonate inhibitor J. Biol. Chem. 277 2002 2266 2274
14. R.A. Anderson, G.M. Bryson, and J.S. Parks Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease Mol. Genet. Metab. 68 1999 333 345
15. S. Ries, C. Aslanidis, P. Fehringer, J.C. Carel, D. Gendrel, and G. Schmitz A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred J. Lipid Res. 37 1996 1761 1765
16. B.K. Burton, and S.P. Reed Acid lipase cross-reacting material in Wolman disease and cholesterol ester storage disease Am. J. Hum. Genet. 33 1981 203 208
17. M. Balwani, C. Breen, G.M. Enns, P.B. Deegan, T. Honzik, S. Jones, J.P. Kane, V. Malinova, R. Sharma, E.O. Stock, V. Valayannopoulos, J.E. Wraith, J. Burg, S. Eckert, E. Schneider, and A.G. Quinn Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease Hepatology 58 2013 950 957
18. T. Fasano, L. Pisciotta, L. Bocchi, O. Guardamagna, P. Assandro, C. Rabacchi, P. Zanoni, M. Filocamo, S. Bertolini, and S. Calandra Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease Mol. Genet. Metab. 105 2012 450 456
19. H. Du, S. Sheriff, J. Bezerra, T. Leonova, and G.A. Grabowski Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease Mol. Genet. Metab. 64 1998 126 134
20. H. Du, and G.A. Grabowski Lysosomal acid lipase and atherosclerosis Curr. Opin. Lipidol. 15 2004 539 544
21. S.W. Fouchier, and J.C. Defesche Lysosomal acid lipase A and the hypercholesterolaemic phenotype Curr. Opin. Lipidol. 24 2013 332 338
22. D.L. Bernstein, H. Hulkova, M.G. Bialer, and R.J. Desnick Cholesteryl ester storage disease: review of the findings in 135 reported patients with an under diagnosed disease J. Hepatol. 58 2013 1230 1243
23. N.O. Stitziel, S.W. Fouchier, B. Sjouke, G.M. Peloso, A.M. Moscoso, P.L. Auer, A. Goel, B. Gigante, T.A. Barnes, O. Melander, M. Orho-Melander, S. Duga, S. Sivapalaratnam, M. Nikpay, N. Martinelli, D. Girelli, R.D. Jackson, C. Kooperberg, L.A. Lange, D. Ardissino, R. McPherson, M. Farrall, H. Watkins, M.P. Reilly, D.J. Rader, U. de Faire, H. Schunkert, J. Erdmann, N.J. Samani, L. Charnas, D. Altshuler, S. Gabriel, J.J. Kastelein, J.C. Defesche, A.J. Nederveen, S. Kathiresan, G.K. Hovingh, L. National Heart G.O.E.S.P. Blood Institute Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia Arterioscler. Thromb. Vasc. Biol. 33 2013 2909 2914
24. C. Aslanidis, S. Ries, P. Fehringer, C. Buchler, H. Klima, and G. Schmitz Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity Genomics 33 1996 85 93
25. F. Pagani, L. Zagato, G. Merati, G. Paone, B. Gridelli, and J.A. Maier A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease Hum. Mol. Genet. 3 1994 1605 1609
26. P.M. Coates, T. Langer, and J.A. Cortner Genetic variation of human mononuclear leukocyte lysosomal acid lipase activity. Relationship to atherosclerosis Atherosclerosis 62 1986 11 20
27. D. Ameis, M. Merkel, C. Eckerskorn, and H. Greten Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase Eur. J. Biochem. 219 1994 905 914
28. E.F. Neufeld, G.N. Sando, A.J. Garvin, and L.H. Rome The transport of lysosomal enzymes J. Supramol. Struct. 6 1977 95 101
29. E.J. Bonten, D. Wang, J.N. Toy, L. Mann, A. Mignardot, G. Yogalingam, and A. D'Azzo Targeting macrophages with baculovirus-produced lysosomal enzymes: implications for enzyme replacement therapy of the glycoprotein storage disorder galactosialidosis FASEB J. 18 2004 971 973