Functional Characterization of LIPA (Lysosomal Acid Lipase) Variants Associated With Coronary Artery Disease.

doi:10.1161/ATVBAHA.119.313443

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

Community

Back to search

Article

Functional Characterization of LIPA (Lysosomal Acid Lipase) Variants Associated With Coronary Artery Disease.

Arteriosclerosis, thrombosis, and vascular biology - 1 Dec 2019

Evans Trent D, Zhang Xiangyu, Clark Reece E, Alisio Arturo, Song Eric, Zhang Hanrui, Reilly Muredach P, Stitziel Nathan O, Razani Babak

Abstract excerpt

OBJECTIVE: LIPA (lysosomal acid lipase) mediates cholesteryl ester hydrolysis, and patients with rare loss-of-function mutations develop hypercholesterolemia and severe disease. Genome-wide association studies of coronary artery disease have identified several tightly linked, common intronic risk variants in LIPA which unexpectedly associate with increased mRNA expression. However, an exonic variant (rs1051338...

Read the complete abstract on PubMed

Topics

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

Share to Coronary Artery Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA

Share to DNA Mutational Analysis

Share to Genome-Wide Association Study

Share to Monocytes

Share to Phenotype

Share to Sterol Esterase

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 31645127
DOI: 10.1161/ATVBAHA.119.313443
PMCID: PMC7050600

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional Characterization of LIPA (Lysosomal Acid Lipase) Variants Associated With Coronary Artery Disease.PMID 31645127Read ↗

Coronary Artery Disease-Associated LIPA Coding Variant rs1051338 Reduces Lysosomal Acid Lipase Levels and Activity in Lysosomes.Semantic proximity Read ↗

LIPA, a risk locus for coronary artery disease: decoding the variant-to-function relationship.Semantic proximity Read ↗

A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.Semantic proximity Read ↗

Identification and metabolic profiling of patients with lysosomal acid lipase deficiency.Semantic proximity Read ↗

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.Semantic proximity Read ↗

Decoding the variant-to-function relationship for <i>LIPA</i> , a risk locus for coronary artery diseaseSemantic proximity Read ↗

Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase gene.Semantic proximity Read ↗

Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease.Semantic proximity Read ↗

Association of LIPA gene polymorphisms with obesity-related metabolic complications among severely obese patients.Semantic proximity Read ↗

Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans.Semantic proximity Read ↗

CRISPR/Cas9-Mediated Gene Editing in Human iPSC-Derived Macrophage Reveals Lysosomal Acid Lipase Function in Human Macrophages-Brief Report.Semantic proximity Read ↗

Perilipin 1: a systematic review on its functions on lipid metabolism and atherosclerosis in mice and humans.Semantic proximity Read ↗

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