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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
Hum Mutat 12: 44

Ries S, Buchler C, Langmann T, Fehringer P, Aslanidis C, Schmitz G (1998)
Transcriptional regulation of lysosomal acid lipase in differentiating monocytes is mediated by transcription factors Sp1 and AP-2
J Lipid Res 39: 2125

Rothe G, Stohr J, Fehringer P, Gasche C, Schmitz G (1997)
Altered mononuclear phagocyte differentiation associated with genetic defects of the lysosomal acid lipase
Atherosclerosis 130: 215

Aslanidis C, Ries S, Fehringer P, Buchler C, Klima H, Schmitz G (1996)
Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity
Genomics 33: 85

Ries S, Aslanidis C, Fehringer P, Carel JC, Gendrel D, Schmitz G (1996)
A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred
J Lipid Res 37: 1761

Becker A, Bottcher A, Lackner KJ, Fehringer P, Notka F, Aslanidis C, Schmitz G (1994)
Purification, cloning, and expression of a human enzyme with acyl coenzyme A: cholesterol acyltransferase activity, which is identical to liver carboxylesterase
Arterioscler Thromb 14: 1346

Klima H, Ullrich K, Aslanidis C, Fehringer P, Lackner KJ, Schmitz G (1993)
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 Clinical Investigation 92: 2713