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LIPA gene

Known as: Wolman disease, LIPA, CESD 
National Institutes of Health

Related topics

Related topics

5 relations
Acid cholesteryl ester hydrolase deficiency, type 2Cholesterol Ester Storage DiseaseLipaseLysosomal Acid Cholesterol Esterase

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2004
2004
Production of recombinant human lysosomal acid lipase in Schizosaccharomyces pombe: development of a fed-batch fermentation and purification process.
2003
2003
The absence of evidence for major effects of the frequent SNP +299G>A in the resistin gene on susceptibility to insulin resistance syndrome associated with Japanese type 2 diabetes.
Highly Cited
2000
Highly Cited
2000
Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease.
1998
1998
Different missense mutations in histidine‐108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals
Cholesteryl ester storage disease (CESD) and Wolman disease (WD) are both autosomal recessive disorders associated with reduced… 
1997
1997
Human lysosomal acid lipase/cholesteryl ester hydrolase and human gastric lipase: identification of the catalytically active serine, aspartic acid, and histidine residues.
Human lysosomal acid lipase/cholesteryl ester hydrolase (HLAL), human gastric lipase (HGL), and rat lingual lipase (RLL… 
1997
1997
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.
Chemical modification studies and site-directed mutagenesis experiments have provided evidence that human lysosomal acid lipase… 
Highly Cited
1996
Highly Cited
1996
Patterns of maternal effort in mouse lines bidirectionally selected for aggression
Abstract The present study was designed to describe maternal behaviour and body weight regulation during lactation, and its… 
1995
1995
A novel variant of lysosomal acid lipase (Leu336-->Pro) associated with acid lipase deficiency and cholesterol ester storage disease.
Cholesterol ester storage disease (CESD) is associated with premature atherosclerosis, hepatomegaly, elevated LDL cholesterol… 
1995
1995
Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD)
Deficiency of lysosomal acid lipase is expressed in two distinct recognizable phenotypes. Wolman disease represents the severe… 
1983
1983
Formation of lysinoalanine during heat treatment of milk
ZusammenfassungIn Rohmagermilch wurde die hitzeinduzierte Bildung von Lysinoalanin (LAL) untermilchtechnologischen Bedingungen… 
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