anti-Lipase A, Lysosomal Acid, Cholesterol Esterase (LIPA) Antibodies

Pig (Porcine) Lipase A, Lysosomal Acid, Cholesterol Esterase (LIPA) interaction partners

1. Cholesterol esterase shows enantioselective inhibition for enantiomers of exo- and endo-2-norbornyl-N-n-butylcarbamates.

Human Lipase A, Lysosomal Acid, Cholesterol Esterase (LIPA) interaction partners

1. Lysosomal acid lipase deficiency is most common in Caucasians of European descent. It is due to a mutation in the LIPA gene. In North America, the prevalence of CESD is about 0.0008% in Caucasian and Hispanic populations.

2. Mutation in the lysosomal acid lipase gene is associated with cholesteryl ester storage disease in hypercholesterolemia.

3. Report LIPA variants/phenotype in childhood-onset lysosomal acid lipase deficiency.

4. 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.

5. 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

6. Report a marked reduction of LAL activity in patients with cryptogenic cirrhosis.

7. LIPA mutations may have a role in with a clinical diagnosis of familial hypercholesterolemia

8. Use CRISPR/Cas9 techniques to knockout LIPA in human induced pluripotent stem cells and differentiate them to macrophages.

9. LIPA associated with Familial Hypercholesterolemia and Polygenic Hypercholesterolemia in patients with Acute Coronary Syndrome , age /=160 mg/dl.

10. 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.

11. Coronary artery disease-associated coding variant rs1051338 causes reduced lysosomal LAL protein and activity because of increased LAL degradation.

12. results indicate that LAL is the major acid RE hydrolase and required for functional retinoid homeostasis.

13. These findings suggest a strong association between impaired LAL activity and Non-alcoholic fatty liver disease.

14. lysosomal acid lipase in hepatocytes is a critical metabolic enzyme in controlling neutral lipid metabolism

15. 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.

16. Case Report: Mexican sisters with heterozygous mutations in exon 4: c.253C>A and c.294C>G resulting in lysosomal acid lipase deficiency.

17. Wolmans disease is a rare autosomal recessive lysosomal storage disease.

18. 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.

19. the rs1412444 and rs2246833 of the LIPA gene are shared susceptibility polymorphisms for CAD among different ethnicities.

20. used (1)H magnetic resonance (MR) spectroscopy to characterize the abnormalities in hepatic lipid content and composition in patients with LAL deficiency

Mouse (Murine) Lipase A, Lysosomal Acid, Cholesterol Esterase (LIPA) interaction partners

1. Data provide evidence that hepatocyte-specific LAL deficiency is sufficient to alter whole-body lipid and energy homeostasis in mice. Hepatic LAL plays a pivotal role by preventing liver damage and maintaining lipid and energy homeostasis, especially during high lipid availability.

2. Lysosomal acid lipase has a critical role in promoting both macrophage and whole-body reverse cholesterol transport.

3. LAL is critical for shuttling fatty acids derived from circulating lipoproteins to brown adipose tissue during cold exposure.

4. Data show that lysosomal acid lipase (LAL)-deficient (-/-) macrophages accumulate neutral lipids, mainly cholesteryl esters, within lysosomes.

5. Low LAL expression is associated with tumor growth and metastasis.

6. The activity of lysosomal acid lipase was also decreased on treatment of macrophages with each modified LDL.

7. results indicate that LAL is the major acid RE hydrolase and required for functional retinoid homeostasis.

8. hLAL expression reduced tumor-promoting myeloid-derived suppressive cells in the liver of lal(-/-) mice

9. Results indicate that LAL has a critical role in regulating MDSCs' ability to directly stimulate cancer cell proliferation and overcome immune rejection of cancer metastasis in allogeneic mice through modulation of the mTOR pathway.

10. effect the loss of SOAT2 function has on tissue esterified cholesterol sequestration in lysosomal acid lipase-deficient mice in a model of cholesteryl ester storage disease

11. Lipolysis of triacylglycerol substrates by LAL is important for M2 macrophage activation, and its inhibition suppresses M2 activation.

12. LAL regulates endothelial cell function through interaction with myeloid-derived suppressor cells and modulation of the mTOR pathway, which provide mechanistic basis for targeting MDSCs or mTOR to rejuvenate EC functions in LAL deficiency-related diseases

13. These results indicate a crucial role of LAL-regulated mTOR signaling in the production and function of CD11b(+)Ly6G(+) cells.

14. SR-BI-delivered HDL-CEs are hydrolyzed by hepatic CEH and utilized for bile acid synthesi

15. FoxO1 is upregulated by nutrient restriction (NR) in adipocytes and exerts the transcriptional control of lipid catabolism via the induction of lysosomal acid lipase

16. analysis of important gene pathways involved in the myeloid lineage cells towards MDSCs using lal-/- mouse model

17. Transgenic overexpression of CEH in macrophages polarizes hepatic macrophages (Kupffer cells) to an anti-inflammatory M2 phenotype that attenuates hepatic lipid synthesis and accumulation.

18. studies demonstrate that LAL in myeloid cells plays a critical role in maintaining normal hematopoietic cell development and balancing immunosuppression and inflammation

19. Studies showed that processing and export of sterol from the late E/L compartment was quantitatively different in mice lacking LAL, NPC2, or NPC1 function.

20. Lysosomal Acid Lipase has a critical role in myelopoiesis