-
1
-
-
0002416162
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
18
-
-
0029014828
-
A novel variant of lysosomal acid lipase (Leu336 → Pro) associated with acid lipase deficiency and cholesteryl ester storage disease
-
Seedorf U, Wiebusch H, Muntoni S, Skovby F, Christensen N C, Nickel V, Roskos M, Funke H, Ose L, Assmann G. A novel variant of lysosomal acid lipase (Leu336 → Pro) associated with acid lipase deficiency and cholesteryl ester storage disease. Arther Thromb Vasc Biol. 15:1995;773-778.
-
(1995)
Arther Thromb Vasc Biol
, vol.15
, pp. 773-778
-
-
Seedorf, U.1
Wiebusch, H.2
Muntoni, S.3
Skovby, F.4
Christensen, N.C.5
Nickel, V.6
Roskos, M.7
Funke, H.8
Ose, L.9
Assmann, G.10
-
19
-
-
0027932484
-
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
-
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
-
21
-
-
0028797149
-
A 5′ splice-region mutation and a dinucleotide deletion in the lysosomal acid lipase gene in two patients with cholesteryl ester storage disease
-
Ameis D, Brockmann G, Knoblich R, Merkel M, Ostland R E Jr, Yang J W, Coates P M, Cortner J A, Feiman S V, Greten H. A 5′ splice-region mutation and a dinucleotide deletion in the lysosomal acid lipase gene in two patients with cholesteryl ester storage disease. J Lipid Res. 36:1995;241-250.
-
(1995)
J Lipid Res
, vol.36
, pp. 241-250
-
-
Ameis, D.1
Brockmann, G.2
Knoblich, R.3
Merkel, M.4
Ostland R.E., Jr.5
Yang, J.W.6
Coates, P.M.7
Cortner, J.A.8
Feiman, S.V.9
Greten, H.10
-
22
-
-
0029046417
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
|