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Article

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

Arteriosclerosis, thrombosis, and vascular biology - 1 Jun 2017

Morris Gavin E, Braund Peter S, Moore Jasbir S, Samani Nilesh J, Codd Veryan, Webb Tom R

Abstract excerpt

OBJECTIVE: Genome-wide association studies have linked variants at chromosome 10q23 with increased coronary artery disease risk. The disease-associated variants fall in LIPA, which encodes lysosomal acid lipase (LAL), the enzyme responsible for lysosomal cholesteryl ester hydrolysis. Loss-of-function mutations in LIPA result in accelerated atherosclerosis. Surprisingly, the coronary artery disease variants are...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28279971
DOI: 10.1161/ATVBAHA.116.308734
PMCID: PMC5444428

Genes

LIPA

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Coronary Artery Disease-Associated LIPA Coding Variant rs1051338 Reduces Lysosomal Acid Lipase Levels and Activity in Lysosomes.PMID 28279971Read ↗

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