Lysosomal Acid Lipase
Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy
... measure lysosomal acid lipase enzyme level from a blood spot using a specific substrate and UPLC-MS/MS [17], potentially further qualifies this disease as a future candidate for newborn ...
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Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfa
... Abstract: Lysosomal acid lipase deficiency (LAL-D) is a rare disorder of cholesterol metabo- lism with an autosomal recessive mode of inheritance. The absence or deficiency of the LAL enzyme gives ...
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<p>Lysosomal acid lipase deficiency – early diagnosis is the key</p>
... Abstract: Lysosomal acid lipase de fi ciency (LAL-D) is an ultra-rare lysosomal storage disease that may present from infancy to late adulthood depending on residual enzyme ...
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A splice junction mutation causes deletion of a 72 base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease
... The genetic defect leading to cholesteryl ester storage disease (CESD) has been determined in a 12-yr-old patient. Lysosomal acid lipase (LAL) activity in cultured skin fibroblasts was reduced to ...
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Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study
... Lysosomal acid lipase (LAL) deficiency is an autosomal- recessive disorder due to deficiency of LAL, the enzyme that hydrolyzes cholesteryl esters and triglycerides (Online Mendelian Inheritance in ...
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Lysosomal Acid Lipase Deficiency Unmasked in Two Children With Nonalcoholic Fatty Liver Disease
... triglyceride. Although it is associated with progressive liver injury, fibrosis, and end-stage liver disease in children and adolescents, LAL-D frequently presents with nonspecific signs that overlap substantially with ...
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Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency
... LAL-D: Lysosomal Acid Lipase Deficiency; LDL-C: Low Density Lipoprotein Cholesterol; NAFLD: Non-Alcoholic Fatty Liver Disease; NASH: Non-Alcoholic Steato Hepatitis; NLRP3: NOD-like receptor protein ...
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<p>Lysosomal Acid Lipase Deficiency: Therapeutic Options</p>
... Abstract: Lysosomal acid lipase (LAL) de fi ciency is a metabolic (storage) disorder, encom- passing a severe (Wolman disease) and attenuated (Cholesterol ester storage disease) sub- type; both ...
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Lysosomal Acid Lipase Activity Deficiency in Children with Liver Disease: a potential biomarker?
... We suggest reading our results from the point of view of lysosomal-autophagy pathway, which is a key process in hepatic lipid metabolism and steatosis [10]. Its dysregulation determines progression of fatty liver ...
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Lysosomal acid lipase in mesenchymal stem cell stimulation of tumor growth and metastasis
... To test the tumor growth potential, 6 × 105 MSCs isolated from FVB/N or C57BL/6 mice and 2 × 105 B16 melanoma cells were mixed, centrifuged and re-suspended in 100 μL PBS, and then injec[r] ...
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Vol. 2, Issue 10, October 2013
... fatty acid synthase and glycerol-3-phosphate dehydrogenase shared the most identity with each ...fatty acid synthase and glycerol-3- phosphate ...[30]. Lipase showed only 35% similarity. Phylogenetic ...
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Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease Lysosomal accumulation of sialic acid formed from N acetyl mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts
... sialic acid was 5-10 times higher in mutant than in normal ...sialic acid, low-density lipoprotein (LDL) was labeled in the sialic acid moiety (periodate-NaB3H4) or in the protein moiety ...
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The role of triacylglycerol in cardiac energy provision
... ACCEPTED MANUSCRIPT apolipoprotein ATGL adipose triacylglycerol lipase CM chylomicron DGAT diacylglycerol acyltransferase FA fatty acid FABP fatty acid binding protein FAT fatty acid tra[r] ...
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Study of carbon distribution at glycosylation sites in Arabidopsis thaliana
... In the current analysis, Lipase protein sequences were obtained from Uniprot database (www.uniprot.org). 169 reviewed protein sequences of Arabidopsis thaliana were taken for analysis. All the sequences were ...
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Adipose Tissue Depots and Their Cross‐Sectional Associations With Circulating Biomarkers of Metabolic Regulation
... FABP-4 is essential for fatty acid trafficking, adipocyte inflammation, and insulin action by binding with fatty acid and interacting with hormonesensitivity lipase.64 Fetuin-A is dominant[r] ...
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Development and validation of a lipase nasogastric tube position test
... human lipase activity is present in the lungs. Human gastric lipase is relatively stable and its produc- tion, unlike the secretion of hydrochloric acid from gastric parietal cells, is not affected ...
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Selective loss of glucocerebrosidase activity in sporadic Parkinson’s disease and dementia with Lewy bodies
... other lysosomal enzymes can also be reliably measured in cerebrospinal fluid (CSF) ...other lysosomal en- zymes involved in different degradation pathways, were also found to be altered in PD patients ...
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Betaine affects muscle lipid metabolism via regulating the fatty acid uptake and oxidation in finishing pig
... fatty acid β-oxidation in ...fatty acid β- oxidation in muscle ...fatty acid oxidation in muscle via activating AMPK and up-regulated PPARα and CPT1 gene ...
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Trafficking of lysosomal enzymes in normal and disease states
... While the M-6-P recognition pathway is clearly important in lysosomal enzyme targeting, there must be mechanisms for localizing acid hydrolases to lysosomes independent of this recogniti[r] ...
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Enzymatic Cellulose Palmitate Synthesis Using Immobilized Lipase
... palmitic acid and Mucor miehei lipase as ...palmitic acid (1:1, 1: 2, 1: 3, 1:4, 1:5, 1:6) at ...palmitic acid occurred within 24 hours and the mass ratio of cellulose: palmitic acid ...
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