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Volumn 64, Issue 2, 1998, Pages 126-134

Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease

Author keywords

Cholesterol ester storage disease; Immunoprecipitation; Lysosomal acid lipase; Wolman's disease

Indexed keywords

ACID LIPASE; ALANINE AMINOTRANSFERASE; AMINO ACID; ASPARTATE AMINOTRANSFERASE; CHOLESTEROL; CHOLESTEROL ESTER; CHOLESTEROL OLEATE; COMPLEMENTARY DNA; MESSENGER RNA; MEVINOLIN; NUCLEOTIDE; PROTEIN; TRIACYLGLYCEROL; TRIOLEIN;

EID: 0031692456     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1998.2707     Document Type: Article
Times cited : (49)

References (34)
  • 1
    • 0002416162 scopus 로고
    • Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease
    • New York: McGraw Hill. p. 2563-2587
    • Assmann G, Seedorf U. Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease. The Metabolic and Molecular Bases of Inherited Disease. 1995;McGraw Hill, New York. p. 2563-2587.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease
    • Assmann, G.1    Seedorf, U.2
  • 2
    • 0019135838 scopus 로고
    • Multivalent feedback regulation of HMG CoA reductase, a control mechanism coordinating isoprenoid synthesis and cell growth
    • Brown M S, Goldstein J L. Multivalent feedback regulation of HMG CoA reductase, a control mechanism coordinating isoprenoid synthesis and cell growth. J Lipid Res. 21:1980;505-517.
    • (1980) J Lipid Res , vol.21 , pp. 505-517
    • Brown, M.S.1    Goldstein, J.L.2
  • 3
    • 0028225462 scopus 로고
    • SREBP-1, a membrane bound transcription factor released by sterol-regulated proteolysis
    • Wang X, Sato R, Brown M S, Hua X, Goldstein J L. SREBP-1, a membrane bound transcription factor released by sterol-regulated proteolysis. Cell. 77:1994;53-62.
    • (1994) Cell , vol.77 , pp. 53-62
    • Wang, X.1    Sato, R.2    Brown, M.S.3    Hua, X.4    Goldstein, J.L.5
  • 4
    • 0027139362 scopus 로고
    • SREBP-2, a second basic-helix-loop-helix-leucine zipper protein that stimulates transcription by binding to a sterol regulatory element
    • Hua X, Yokoyama C, Wu J, Briggs R, Brown M S, Goldstein J L, Wang X. SREBP-2, a second basic-helix-loop-helix-leucine zipper protein that stimulates transcription by binding to a sterol regulatory element. Proc Natl Acad Sci USA. 90:1993;11603-11607.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 11603-11607
    • Hua, X.1    Yokoyama, C.2    Wu, J.3    Briggs, R.4    Brown, M.S.5    Goldstein, J.L.6    Wang, X.7
  • 5
    • 0027190308 scopus 로고
    • Nuclear protein that binds sterol regulatory element of low-density lipoprotein receptor promoter
    • Briggs M R, Yokoyama C, Wang X, Brown M S, Goldstein J L. Nuclear protein that binds sterol regulatory element of low-density lipoprotein receptor promoter. J Biol Chem. 268:1993;14490-14496.
    • (1993) J Biol Chem , vol.268 , pp. 14490-14496
    • Briggs, M.R.1    Yokoyama, C.2    Wang, X.3    Brown, M.S.4    Goldstein, J.L.5
  • 6
    • 0016836751 scopus 로고
    • Role of lysosomal acid lipase in the metabolism of plasma low-density lipoprotein
    • Goldstein J L, Dana S E, Faust J R, Beaudet A L, Brown M S. Role of lysosomal acid lipase in the metabolism of plasma low-density lipoprotein. J Biol Chem. 250:1975;8487-8495.
    • (1975) J Biol Chem , vol.250 , pp. 8487-8495
    • Goldstein, J.L.1    Dana, S.E.2    Faust, J.R.3    Beaudet, A.L.4    Brown, M.S.5
  • 7
    • 0021736152 scopus 로고
    • Cholesteryl ester storage disease and Wolman's disease: Phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency
    • Hoeg J M, Demosky S J Jr., Pescovitz O H, Brewer H B Jr. Cholesteryl ester storage disease and Wolman's disease: Phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency. Am J Hum Genet. 36:1984;1190-1203.
    • (1984) Am J Hum Genet , vol.36 , pp. 1190-1203
    • Hoeg, J.M.1    Demosky S.J., Jr.2    Pescovitz, O.H.3    Brewer H.B., Jr.4
  • 8
    • 0025791980 scopus 로고
    • Cloning and expression of cDNA encoding human lysosomal acid lipase/cholesteryl ester hydrolase
    • Anderson R A, Sando G N. Cloning and expression of cDNA encoding human lysosomal acid lipase/cholesteryl ester hydrolase. J Biol Chem. 266:1991;22479-22484.
    • (1991) J Biol Chem , vol.266 , pp. 22479-22484
    • Anderson, R.A.1    Sando, G.N.2
  • 9
    • 0029929896 scopus 로고    scopus 로고
    • Tissue and cellular specific expression of murine lysosomal acid lipase mRNA and protein
    • Du H, Witte D P, Grabowski G A. Tissue and cellular specific expression of murine lysosomal acid lipase mRNA and protein. J Lipid Res. 36:1996;937-949.
    • (1996) J Lipid Res , vol.36 , pp. 937-949
    • Du, H.1    Witte, D.P.2    Grabowski, G.A.3
  • 10
    • 0028862871 scopus 로고
    • 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. Cloning of rat lysosomal acid lipase cDNA and identification of the mutation in the rat model of Wolman's disease. J Lipid Res. 36:1995;2212-2218.
    • (1995) J Lipid Res , vol.36 , pp. 2212-2218
    • Nakagawa, H.1    Matsubara, S.2    Kuriyama, M.3    Yoshidome, H.4    Fujiyama, J.5    Yoshida, H.6    Osame, M.7
  • 11
    • 0027478365 scopus 로고
    • 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
    • Anderson R A, Rao R A, Byrum R S, Rothschild C B, Bowden D W, Hayworth R, Pettentai M. 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. 1:1993;245-247.
    • (1993) Genomics , vol.1 , pp. 245-247
    • Anderson, R.A.1    Rao, R.A.2    Byrum, R.S.3    Rothschild, C.B.4    Bowden, D.W.5    Hayworth, R.6    Pettentai, M.7
  • 12
    • 0028351618 scopus 로고
    • Genomic organization of the human lysosomal acid lipase gene (LIPA)
    • Aslanidis C, Klima H, Lackner K J, Schmitz G. Genomic organization of the human lysosomal acid lipase gene (LIPA). Genomics. 20:1994;329-331.
    • (1994) Genomics , vol.20 , pp. 329-331
    • Aslanidis, C.1    Klima, H.2    Lackner, K.J.3    Schmitz, G.4
  • 13
    • 23444460383 scopus 로고
    • Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease
    • Anderson R A, Byrum R S, Coates P M, Sando G N. Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. Proc Natl Acad Sci USA. 91:1994;2718-2722.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 2718-2722
    • Anderson, R.A.1    Byrum, R.S.2    Coates, P.M.3    Sando, G.N.4
  • 14
    • 0027954965 scopus 로고
    • Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase
    • Ameis D M, Merkel M, Eckerskorn C, Greten H. Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase. Eur J Biochem. 219:1994;905-914.
    • (1994) Eur J Biochem , vol.219 , pp. 905-914
    • Ameis, D.M.1    Merkel, M.2    Eckerskorn, C.3    Greten, H.4
  • 15
    • 85030343837 scopus 로고
    • Two polymorphic forms of human lysosomal acid lipase have different levels of activity
    • Du H, Sheriff S. Two polymorphic forms of human lysosomal acid lipase have different levels of activity. Am J Hum Genet. 57:1995;1017A.
    • (1995) Am J Hum Genet , vol.57
    • Du, H.1    Sheriff, S.2
  • 16
    • 0030067068 scopus 로고    scopus 로고
    • A missense mutation (Thr-6Pro) in the lysosomal acid lipase (LAL) gene is present with a high frequency in three different ethnic populations impact on serum lipoprotein concentrations
    • Muntoni S, Wiebusch H, Funke H, Seedorf U, Roskos M, Schulte H, Saku K, Arakawa K, Balestrieri A, Assmann G. A missense mutation (Thr-6Pro) in the lysosomal acid lipase (LAL) gene is present with a high frequency in three different ethnic populations impact on serum lipoprotein concentrations. Hum Genet. 97:1996;265-267.
    • (1996) Hum Genet , vol.97 , pp. 265-267
    • Muntoni, S.1    Wiebusch, H.2    Funke, H.3    Seedorf, U.4    Roskos, M.5    Schulte, H.6    Saku, K.7    Arakawa, K.8    Balestrieri, A.9    Assmann, G.10
  • 17
    • 0028884792 scopus 로고
    • Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease
    • Maslen C L, Babcock D, Illingworth D R. Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease. J Inher Metab Dis. 18:1995;620-623.
    • (1995) J Inher Metab Dis , vol.18 , pp. 620-623
    • Maslen, C.L.1    Babcock, D.2    Illingworth, D.R.3
  • 19
    • 0027932484 scopus 로고
    • Histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease
    • Pagani F, Zagato L, Merati G, Paone G, Gridelli B, Maier J A. Histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease. Hum Mol Genet. 3:1995;1605-1609.
    • (1995) Hum Mol Genet , vol.3 , pp. 1605-1609
    • Pagani, F.1    Zagato, L.2    Merati, G.3    Paone, G.4    Gridelli, B.5    Maier, J.A.6
  • 20
    • 0027131856 scopus 로고
    • 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. 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. J Clin Invest. 92:1993;2713-2718.
    • (1993) J Clin Invest , vol.92 , pp. 2713-2718
    • Klima, H.1    Ullrich, K.2    Aslanidis, C.3    Fehringer, P.4    Lackner, K.J.5    Schmitz, G.6
  • 22
    • 0029046417 scopus 로고
    • Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesteryl ester storage disease (CESD)
    • Muntoni S, Wiebusch H, Funke H, Ros E, Seedorf U, Assmann G. Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesteryl ester storage disease (CESD). Hum Genet. 95:1995;491-494.
    • (1995) Hum Genet , vol.95 , pp. 491-494
    • Muntoni, S.1    Wiebusch, H.2    Funke, H.3    Ros, E.4    Seedorf, U.5    Assmann, G.6
  • 23
    • 0029877616 scopus 로고    scopus 로고
    • Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity
    • Aslanidis C, Ries S, Fehringer P, Buchler C, Klima H, Schmitz G. Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity. Genomics. 33:1996;85-93.
    • (1996) Genomics , vol.33 , pp. 85-93
    • Aslanidis, C.1    Ries, S.2    Fehringer, P.3    Buchler, C.4    Klima, H.5    Schmitz, G.6
  • 24
    • 0029817498 scopus 로고    scopus 로고
    • 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. Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease. Hum Mol Genet. 5:1996;1611-1617.
    • (1996) Hum Mol Genet , vol.5 , pp. 1611-1617
    • Pagani, F.1    Garcia, R.2    Pariyarath, R.3    Stuani, C.4    Gridelli, B.5    Paone, G.6    Baralle, F.7
  • 25
    • 0029815627 scopus 로고    scopus 로고
    • A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred
    • Ries S, Aslanidis C, Fehringer P, Carel J, Gendrel D, Schmitz G. 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.
    • (1996) J Lipid Res , vol.37 , pp. 1761-1765
    • Ries, S.1    Aslanidis, C.2    Fehringer, P.3    Carel, J.4    Gendrel, D.5    Schmitz, G.6
  • 26
    • 0030866172 scopus 로고    scopus 로고
    • A novel varant of lysosomal acid lipase in cholesteryl ester storage disease associated with phenotype and improvement on lovastatin
    • Gasche C, Aslanidis C, Kain R, Exner M, Helbich T, Dejaco C, Schmitz G, Ferenci P. A novel varant of lysosomal acid lipase in cholesteryl ester storage disease associated with phenotype and improvement on lovastatin. J Hepatol. 27:1997;744-750.
    • (1997) J Hepatol , vol.27 , pp. 744-750
    • Gasche, C.1    Aslanidis, C.2    Kain, R.3    Exner, M.4    Helbich, T.5    Dejaco, C.6    Schmitz, G.7    Ferenci, P.8
  • 27
    • 0027476091 scopus 로고
    • Human transcription factor USF stimulates transcription through the initial elements of the HIV-1 and Ad-ML promoters
    • Du H, Roy A L, Roeder R G. Human transcription factor USF stimulates transcription through the initial elements of the HIV-1 and Ad-ML promoters. EMBO J. 12:1993;501-511.
    • (1993) EMBO J , vol.12 , pp. 501-511
    • Du, H.1    Roy, A.L.2    Roeder, R.G.3
  • 28
    • 0028856320 scopus 로고
    • Lysosomal acid lipase: Characterization by site directed mutagenesis and heterologous expression
    • Sheriff S, Du H, Grabowski G A. Lysosomal acid lipase: characterization by site directed mutagenesis and heterologous expression. J Biol Chem. 270:1995;27766-27772.
    • (1995) J Biol Chem , vol.270 , pp. 27766-27772
    • Sheriff, S.1    Du, H.2    Grabowski, G.A.3
  • 29
    • 0030016109 scopus 로고    scopus 로고
    • Proteolytic processing patterns of prosaposin in insect and mammalian cells
    • Leonova T, Qi X, Bencosme A, Ponce E, Sun Y, Grabowski G A. Proteolytic processing patterns of prosaposin in insect and mammalian cells. J Biol Chem. 271:1996;17312-17320.
    • (1996) J Biol Chem , vol.271 , pp. 17312-17320
    • Leonova, T.1    Qi, X.2    Bencosme, A.3    Ponce, E.4    Sun, Y.5    Grabowski, G.A.6
  • 30
    • 0020324236 scopus 로고
    • Characterization of neutral and acid hydrolase in Wolman's disease
    • Hoeg J M, Demosky S J, Brewer B. Characterization of neutral and acid hydrolase in Wolman's disease. Biochem Biophys Acta. 711:1982;59-65.
    • (1982) Biochem Biophys Acta , vol.711 , pp. 59-65
    • Hoeg, J.M.1    Demosky, S.J.2    Brewer, B.3
  • 31
    • 0018904714 scopus 로고
    • Lysosomal acid lipase in cultivated fibroblasts: Characterization of enzyme activity in normal and enzymatically defected cell lines
    • Burton B K, Emery D, Mueller H W. Lysosomal acid lipase in cultivated fibroblasts: Characterization of enzyme activity in normal and enzymatically defected cell lines. Clin Chim Acta. 101:1980;25-32.
    • (1980) Clin Chim Acta , vol.101 , pp. 25-32
    • Burton, B.K.1    Emery, D.2    Mueller, H.W.3
  • 32
    • 0029817498 scopus 로고    scopus 로고
    • 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. Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease. Hum Mol Genet. 5:1996;1611-1617.
    • (1996) Hum Mol Genet , vol.5 , pp. 1611-1617
    • Pagani, F.1    Garcia, R.2    Pariyarath, R.3    Stuani, C.4    Gridelli, B.5    Paone, G.6    Baralle, F.E.7
  • 33
    • 0030924426 scopus 로고    scopus 로고
    • Cysteine rsidues in human lysosomal acid lipase are involved in selective cholesteryl esterase activity
    • Pagani F, Pariyarath R, Stuani C, Garcia R, Baralle F E. Cysteine rsidues in human lysosomal acid lipase are involved in selective cholesteryl esterase activity. Biochem J. 326:1997;265-269.
    • (1997) Biochem J , vol.326 , pp. 265-269
    • Pagani, F.1    Pariyarath, R.2    Stuani, C.3    Garcia, R.4    Baralle, F.E.5
  • 34
    • 0030863331 scopus 로고    scopus 로고
    • Human lysosomal acid lipase/cholesteryl ester hydrolase and human gastric lipase: Site-directed mutagenesis of Cys227 and Cys236 results in substrate-dependent reduction of enzymatic activity
    • Lohse P, Loshe P, Chahrokh-Zadeh S, Seidel D. Human lysosomal acid lipase/cholesteryl ester hydrolase and human gastric lipase: site-directed mutagenesis of Cys227 and Cys236 results in substrate-dependent reduction of enzymatic activity. J Lipid Res. 38:1997;1896-1905.
    • (1997) J Lipid Res , vol.38 , pp. 1896-1905
    • Lohse, P.1    Loshe, P.2    Chahrokh-Zadeh, S.3    Seidel, D.4


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