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Article

Reversal of advanced disease in lysosomal acid lipase deficient mice: a model for lysosomal acid lipase deficiency disease.

Molecular genetics and metabolism - 1 Jul 2014

Sun Ying, Xu You-Hai, Du Hong, Quinn Brian, Liou Benjamin, Stanton Lori, Inskeep Venette, Ran Huimin, Jakubowitz Phillip, Grilliot Nicholas, Grabowski Gregory A

Abstract excerpt

Lysosomal acid lipase (LAL) is an essential enzyme that hydrolyzes triglycerides (TG) and cholesteryl esters (CE) in lysosomes. Mutations of the LIPA gene lead to Wolman disease (WD) and cholesterol ester storage disease (CESD). The disease hallmarks include hepatosplenomegaly and extensive storage of CE and/or TG. The effects of intravenous investigational enzyme therapy (ET) on survival and efficacy were...

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Identifiers

PMID: 24837159
DOI: 10.1016/j.ymgme.2014.04.006

Genes

LIPA

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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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