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Mutation in the lysosomal acid lipase gene is associated with cholesteryl ester storage disease in hypercholesterolemia.
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Report LIPA variants/phenotype in childhood-onset lysosomal acid lipase deficiency.
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LAL activity is significantly reduced in NAFLD, compared to that in HCV patients. This finding is particularly evident in the pre-cirrhotic stage of disease. LAL activity is also correlated with platelet and white blood cell count, suggesting an analytic interference of portal-hypertension-induced pancytopenia on DBS-determined LAL activity.
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LAL plays a critical role in regulating mesenchymal stem cells' ability to stimulate tumor growth and metastasis, which provides a mechanistic basis for targeting LAL in MSCs to reduce the risk of cancer metastasis
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Report a marked reduction of LAL activity in patients with cryptogenic cirrhosis.
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LIPA mutations may have a role in with a clinical diagnosis of familial hypercholesterolemia
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Use CRISPR/Cas9 techniques to knockout LIPA in human induced pluripotent stem cells and differentiate them to macrophages.
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LIPA associated with Familial Hypercholesterolemia and Polygenic Hypercholesterolemia in patients with Acute Coronary Syndrome , age /=160 mg/dl.
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Study demonstrates that liver cirrhosis from any etiology is characterized by a significant reduction of LAL activity but no known c.894G>A SNP, which is likely on an acquired base and independent from the etiology of hepatic disease.
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Coronary artery disease-associated coding variant rs1051338 causes reduced lysosomal LAL protein and activity because of increased LAL degradation.
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results indicate that LAL is the major acid RE hydrolase and required for functional retinoid homeostasis.
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These findings suggest a strong association between impaired LAL activity and Non-alcoholic fatty liver disease.
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lysosomal acid lipase in hepatocytes is a critical metabolic enzyme in controlling neutral lipid metabolism
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The observed loss-of-function phenotype in cholesteryl ester storage disease patients with the His295Tyr (H295Y) mutation in the LAL gene might arise from a combination of protein destabilization and the shift to a non-functional soluble aggregate.
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Case Report: Mexican sisters with heterozygous mutations in exon 4: c.253C>A and c.294C>G resulting in lysosomal acid lipase deficiency.
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Wolmans disease is a rare autosomal recessive lysosomal storage disease.
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To our knowledge, this is the first pediatric case of genetically and biopsy confirmed CESD without hepatomegaly, suggesting that this diagnosis can be easily missed.
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the rs1412444 and rs2246833 of the LIPA gene are shared susceptibility polymorphisms for CAD among different ethnicities.
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used (1)H magnetic resonance (MR) spectroscopy to characterize the abnormalities in hepatic lipid content and composition in patients with LAL deficiency
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The results show that lysosomal acid lipase E8SJM mutation carriers have an alteration in lipid profile with a Polygenic Hypercholesterolemia phenotype.
