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Article

Crystal structure of human lysosomal acid lipase and its implications in cholesteryl ester storage disease.

Journal of lipid research - 1 Aug 2020

Rajamohan Francis, Reyes Allan R, Tu Meihua, Nedoma Nicole L, Hoth Lise R, Schwaid Adam G, Kurumbail Ravi G, Ward Jessica, Han Seungil

Abstract excerpt

Lysosomal acid lipase (LAL) is a serine hydrolase that hydrolyzes cholesteryl ester (CE) and TGs delivered to the lysosomes into free cholesterol and fatty acids. LAL deficiency due to mutations in the LAL gene (LIPA) results in accumulation of TGs and cholesterol esters in various tissues of the body leading to pathological conditions such as Wolman's disease and CE storage disease (CESD). Here, we present the...

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Identifiers

PMID: 32482718
DOI: 10.1194/jlr.RA120000748
PMCID: PMC7397744

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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