Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Enzyme therapy for lysosomal acid lipase deficiency in the mouse.

Human molecular genetics - 1 Aug 2001

Du H, Schiavi S, Levine M, Mishra J, Heur M, Grabowski G A

Abstract excerpt

Lysosomal acid lipase (LAL) is the critical enzyme for the hydrolysis of the triglycerides (TG) and cholesteryl esters (CE) delivered to lysosomes. Its deficiency produces two human phenotypes, Wolman disease (WD) and cholesteryl ester storage disease (CESD). A targeted disruption of the LAL locu...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Drug Delivery Systems
Share to Intestines
Share to Lectins, C-Type

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lipase

Share to Lysosomes

Share to Mannose-Binding Lectins

Share to Mannose Receptor

Share to Pichia

Source

Identifiers

PMID: 11487567
DOI: 10.1093/hmg/10.16.1639

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11487567-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Enzyme therapy for lysosomal acid lipase deficiency in the mouse.PMID 11487567Read ↗

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

Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage.Semantic proximity Read ↗

Secreted enzyme uptake masks the in vivo phenotype of macrophage-specific lysosomal acid lipase deletion.Semantic proximity Read ↗

Lysosomal acid lipase: a pivotal enzyme in the pathogenesis of cholesteryl ester storage disease and Wolman disease.Semantic proximity Read ↗

Gene Therapy for Lysosomal Storage Diseases (LSDs) in Large Animal ModelsSemantic proximity Read ↗

Lipid-based nanoparticles deliver mRNA to reverse the pathogenesis of lysosomal acid lipase deficiency in a preclinical modelSemantic proximity Read ↗

Rescue of lysosomal acid lipase deficiency in mice by rAAV8 liver gene transferSemantic proximity Read ↗

Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease.Semantic proximity Read ↗

Rescue of lysosomal acid lipase deficiency in mice by rAAV8 liver gene transferSemantic proximity Read ↗

Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.Semantic proximity Read ↗

Rescue of lysosomal acid lipase deficiency in mice by rAAV8 liver gene transferSemantic proximity Read ↗

Novel cytometry-based characterization of lysosomal storage disease affected patient's cellsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.