Výsledky vyhledávání - "Petra Fehringer"

Akademický článek

Transcriptional regulation of lysosomal acid lipase in differentiating monocytes is mediated by transcription factors Sp1 and AP-2

Autor: Stefan Ries, Christa Büchler, Thomas Langmann, Petra Fehringer, Charalampos Aslanidis, Gerd Schmitz

Publikováno v: Journal of Lipid Research, Vol 39, Iss 11, Pp 2125-2134 (1998)

Human lysosomal acid lipase (LAL) is a hydrolase required for the cleavage of cholesteryl esters and triglycerides derived from plasma lipoproteins. It is shown here that during monocyte to macrophage differentiation, the expression of LAL-mRNA is in

Externí odkaz: https://doaj.org/article/d8b046630a3948c49a2d111efe1ed9ca

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A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred

Autor: Charalampos Aslanidis, J C Carel, D Gendrel, Petra Fehringer, Gerd Schmitz, Stefan Ries

Publikováno v: Journal of Lipid Research, Vol 37, Iss 8, Pp 1761-1765 (1996)

Cholesteryl ester storage disease (CESD) and Wolman disease (WD) are both autosomal recessive disorders associated with reduced activity and genetic defects of lysosomal acid lipase (LAL). The strikingly more severe course of WD is caused by genetic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8400f5b269e85b9564aa158e88aa4498
https://doi.org/10.1016/s0022-2275(20)39119-7

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Transcriptional regulation of lysosomal acid lipase in differentiating monocytes is mediated by transcription factors Sp1 and AP-2

Autor: Petra Fehringer, Christa Büchler, Gerd Schmitz, Charalampos Aslanidis, Stefan Ries, Thomas Langmann

Publikováno v: Journal of Lipid Research, Vol 39, Iss 11, Pp 2125-2134 (1998)

Human lysosomal acid lipase (LAL) is a hydro- lase required for the cleavage of cholesteryl esters and tri- glycerides derived from plasma lipoproteins. It is shown here that during monocyte to macrophage differentiation, the expression of LAL-mRNA i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4563b486df2af001f0d63f32d92eab9
https://pubmed.ncbi.nlm.nih.gov/9799798

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Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals

Autor: Christoph Gasche, Stefan Ries, Gerd Schmitz, Petra Fehringer, Heiner Greten, Charalampos Aslanidis, Nikola Jung, Christa Büchler, Dominique C. Belli, Detlev Ameis, Gisela Schindler, Axel Schambach, Marie T. Vanier

Publikováno v: Human Mutation, Vol. 12, No 1 (1998) pp. 44-51

Cholesteryl ester storage disease (CESD) and Wolman disease (WD) are both autosomal recessive disorders associated with reduced activity of lysosomal acid lipase (LAL), that leads to the tissue accumulation of cholesteryl esters in endosomes and lyso

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3966df3f769e4ec450690b0a3b4773f5
https://pubmed.ncbi.nlm.nih.gov/9633819

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Altered mononuclear phagocyte differentiation associated with genetic defects of the lysosomal acid lipase

Autor: Christoph Gasche, Petra Fehringer, Josef Stöhr, Gerd Schmitz, Gregor Rothe

Publikováno v: Atherosclerosis. 130(1-2)

Multiparameter flow cytometry reveals a complex heterogeneity of mononuclear phagocyte differentiation within the peripheral blood compartment. In this study, the relation of abnormal cellular lipid metabolism to the phenotype of peripheral blood mon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7a8d4b61243cecdd52afd298340c292
https://pubmed.ncbi.nlm.nih.gov/9126667

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Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity

Autor: Charalampos Aslanidis, Gerd Schmitz, Christa Büchler, Stefan Ries, Horst Klima, Petra Fehringer

Publikováno v: Genomics. 33(1)

Cholesteryl ester storage disease (CESD) and Wolman disease are both autosomal recessive disorders associated with reduced activity and genetic defects of lysosomal acid lipase (LAL). We provide evidence that the strikingly more severe course of Wolm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4b1b7f15fded4445e074fe83d8e697c
https://pubmed.ncbi.nlm.nih.gov/8617513

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Purification, cloning, and expression of a human enzyme with acyl coenzyme A: cholesterol acyltransferase activity, which is identical to liver carboxylesterase

Autor: Charalampos Aslanidis, Gerd Schmitz, Frank Notka, Alfred Böttcher, Karl J. Lackner, Petra Fehringer, Alfred Becker

Publikováno v: Arteriosclerosis and thrombosis : a journal of vascular biology. 14(8)

An enzyme with acyl coenzyme A:cholesterol acyltransferase (ACAT) activity was isolated from porcine liver, and sequences derived from trypsinized peptides indicated homology to liver carboxylesterase. By use of degenerate primers, human cDNA clones

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::415442e6b5d8f2348da69bdffa190282
https://pubmed.ncbi.nlm.nih.gov/8049197

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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

Autor: Petra Fehringer, Kurt Ullrich, Charalampos Aslanidis, Gerd Schmitz, Horst Klima, Karl J. Lackner

Publikováno v: The Journal of clinical investigation. 92(6)

The genetic defect leading to cholesteryl ester storage disease (CESD) has been determined in a 12-yr-old patient. Lysosomal acid lipase (LAL) activity in cultured skin fibroblasts was reduced to approximately 9% of control fibroblasts. Plasma choles

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eedd95af592031f6b0e2ec631c851feb
https://pubmed.ncbi.nlm.nih.gov/8254026

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