Recent insights into lysosomal acid lipase deficiency

M Korbelius, KB Kuentzel, I Bradić, N Vujić… - Trends in molecular …, 2023 - cell.com
Lysosomal acid lipase (LAL) is the sole enzyme known to degrade neutral lipids in the
lysosome. Mutations in the LAL-encoding LIPA gene lead to rare lysosomal lipid storage …

[HTML][HTML] Non-alcoholic fatty liver disease development: A multifactorial pathogenic phenomena

A Bashir, A Duseja, A De, M Mehta, P Tiwari - Liver Research, 2022 - Elsevier
Non-alcoholic fatty liver disease (NAFLD), characterized by the accumulation of excessive
intrahepatic fat, is a leading metabolic disorder also considered as the hepatic manifestation …

Lysosomal acid lipase deficiency: a rare inherited dyslipidemia but potential ubiquitous factor in the development of atherosclerosis and fatty liver disease

KJ Besler, V Blanchard, GA Francis - Frontiers in Genetics, 2022 - frontiersin.org
Lysosomal acid lipase (LAL), encoded by the gene LIPA, is the sole neutral lipid hydrolase
in lysosomes, responsible for cleavage of cholesteryl esters and triglycerides into their …

Drosophila Lipase 3 mediates the metabolic response to starvation and aging

L Hänschke, C Heier, SJ Maya Palacios, HE Özek… - Frontiers in …, 2022 - frontiersin.org
The human LIPA gene encodes for the enzyme lysosomal acid lipase, which hydrolyzes
cholesteryl ester and triacylglycerol. Lysosomal acid lipase deficiency results in Wolman …

Lysosomal acid lipase deficiency: genetics, screening, and preclinical study

R Mashima, S Takada - International Journal of Molecular Sciences, 2022 - mdpi.com
Lysosomal acid lipase (LAL) is a lysosomal enzyme essential for the degradation of
cholesteryl esters through the endocytic pathway. Deficiency of the LAL enzyme encoded by …

Targeting the lysosome: Mechanisms and treatments for nonalcoholic fatty liver disease

J Pu - Journal of cellular biochemistry, 2022 - Wiley Online Library
The multiple functions of the lysosome, including degradation, nutrient sensing, signaling,
and gene regulation, enable the lysosome to regulate lipid metabolism at different levels. In …

Dissecting cell type–specific impact in lysosomal acid lipase deficiency–associated disorders

M Westerterp, F Li, H Zhang - Journal of Lipid Research, 2023 - ASBMB
Lysosomal acid lipase (LAL), encoded by the LIPA gene, is the only known acidic lipase that
hydrolyzes cholesteryl ester (CE) and triglycerides (TGs) in lysosomes. These lipids …

Decoding the Variant-to-Function Relationship for LIPA, a Risk Locus for CAD

F Li, E Flynn, J Shi, X Wu, Z Wang, C Xue, H Cheng… - bioRxiv, 2022 - biorxiv.org
Background Genome-wide association studies revealed a robust association between
genetic variants in the LIPA (lysosomal acid lipase) gene and coronary artery diseases …