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| Title : Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals - Ries_1998_Hum.Mutat_12_44 |
| Author(s) : Ries S , Buchler C , Schindler G , Aslanidis C , Ameis D , Gasche C , Jung N , Schambach A , Fehringer P , Vanier MT , Belli DC , Greten H , Schmitz G |
| Ref : Hum Mutat , 12 :44 , 1998 |
| Abstract : Ries_1998_Hum.Mutat_12_44 |
| ESTHER : Ries_1998_Hum.Mutat_12_44 |
| PubMedSearch : Ries_1998_Hum.Mutat_12_44 |
| PubMedID: 9633819 |
| Gene_locus related to this paper: human-LIPA |
| Title : Transcriptional regulation of lysosomal acid lipase in differentiating monocytes is mediated by transcription factors Sp1 and AP-2 - Ries_1998_J.Lipid.Res_39_2125 |
| Author(s) : Ries S , Buchler C , Langmann T , Fehringer P , Aslanidis C , Schmitz G |
| Ref : J Lipid Res , 39 :2125 , 1998 |
| Abstract : Ries_1998_J.Lipid.Res_39_2125 |
| ESTHER : Ries_1998_J.Lipid.Res_39_2125 |
| PubMedSearch : Ries_1998_J.Lipid.Res_39_2125 |
| PubMedID: 9799798 |
| Gene_locus related to this paper: human-LIPA |
| Title : Altered mononuclear phagocyte differentiation associated with genetic defects of the lysosomal acid lipase - Rothe_1997_Atherosclerosis_130_215 |
| Author(s) : Rothe G , Stohr J , Fehringer P , Gasche C , Schmitz G |
| Ref : Atherosclerosis , 130 :215 , 1997 |
| Abstract : Rothe_1997_Atherosclerosis_130_215 |
| ESTHER : Rothe_1997_Atherosclerosis_130_215 |
| PubMedSearch : Rothe_1997_Atherosclerosis_130_215 |
| PubMedID: 9126667 |
| Gene_locus related to this paper: human-LIPA |
| Title : Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity - Aslanidis_1996_Genomics_33_85 |
| Author(s) : Aslanidis C , Ries S , Fehringer P , Buchler C , Klima H , Schmitz G |
| Ref : Genomics , 33 :85 , 1996 |
| Abstract : Aslanidis_1996_Genomics_33_85 |
| ESTHER : Aslanidis_1996_Genomics_33_85 |
| PubMedSearch : Aslanidis_1996_Genomics_33_85 |
| PubMedID: 8617513 |
| Gene_locus related to this paper: human-LIPA |
| Title : A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred - Ries_1996_J.Lipid.Res_37_1761 |
| Author(s) : Ries S , Aslanidis C , Fehringer P , Carel JC , Gendrel D , Schmitz G |
| Ref : J Lipid Res , 37 :1761 , 1996 |
| Abstract : Ries_1996_J.Lipid.Res_37_1761 |
| ESTHER : Ries_1996_J.Lipid.Res_37_1761 |
| PubMedSearch : Ries_1996_J.Lipid.Res_37_1761 |
| PubMedID: 8864960 |
| Gene_locus related to this paper: human-LIPA |
| Title : Purification, cloning, and expression of a human enzyme with acyl coenzyme A: cholesterol acyltransferase activity, which is identical to liver carboxylesterase - Becker_1994_Arterioscler.Thromb_14_1346 |
| Author(s) : Becker A , Bottcher A , Lackner KJ , Fehringer P , Notka F , Aslanidis C , Schmitz G |
| Ref : Arterioscler Thromb , 14 :1346 , 1994 |
| Abstract : Becker_1994_Arterioscler.Thromb_14_1346 |
| ESTHER : Becker_1994_Arterioscler.Thromb_14_1346 |
| PubMedSearch : Becker_1994_Arterioscler.Thromb_14_1346 |
| PubMedID: 8049197 |
| Gene_locus related to this paper: human-CES1 , pig-EST1 |
| Title : 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_1993_J.Clin.Invest_92_2713 |
| Author(s) : Klima H , Ullrich K , Aslanidis C , Fehringer P , Lackner KJ , Schmitz G |
| Ref : J Clinical Investigation , 92 :2713 , 1993 |
| Abstract : Klima_1993_J.Clin.Invest_92_2713 |
| ESTHER : Klima_1993_J.Clin.Invest_92_2713 |
| PubMedSearch : Klima_1993_J.Clin.Invest_92_2713 |
| PubMedID: 8254026 |
| Gene_locus related to this paper: human-LIPA |