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Article

Structural bases of Wolman disease and cholesteryl ester storage disease.

Molecular genetics and metabolism - 1 Feb 2012

Saito Seiji, Ohno Kazuki, Suzuki Toshihiro, Sakuraba Hitoshi

Abstract excerpt

To elucidate the bases of Wolman disease (WD) and cholesteryl ester storage disease (CESD) from the viewpoint of enzyme structure, we constructed a structural model of human lysosomal acid lipase (LAL) using molecular modeling software Modeller. The results revealed that the residues responsible for WD/CESD tend to be less solvent-accessible than others. Then, we examined the structural changes in the LAL protein...

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Identifiers

PMID: 22138108
DOI: 10.1016/j.ymgme.2011.11.004

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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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