Large‐scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23837
Abstract: Lysosomal acid lipase (LAL) deficiency is an autosomal recessive disorder caused by LIPA gene mutations that disrupt LAL activity. We performed in vitro functional testing of 149 LIPA variants to increase the understanding of the… read more here.
Keywords: prevalence estimates; lysosomal acid; prevalence; acid lipase ... See more keywords
Screening for lysosomal acid lipase deficiency: A retrospective data mining study and evaluation of screening criteria.
Sign Up to like & getrecommendations! Published in 2018 at "Atherosclerosis"
DOI: 10.1016/j.atherosclerosis.2018.09.023
Abstract: BACKGROUND AND AIMS Lysosomal acid lipase deficiency (LAL-D) is a lysosomal storage disorder. In severe cases, it can cause life-threatening organ failure due to lipid substrates accumulation. However, mild phenotypes of this disorder are increasingly… read more here.
Keywords: data mining; retrospective data; lysosomal acid; study ... See more keywords
Lysosomal Acid Lipase Is Required for Donor T Cells to Induce Graft-versus-Host Disease
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DOI: 10.1016/j.celrep.2020.108316
Abstract: SUMMARY Graft-versus-host disease (GVHD) limits the success of allogeneic hematopoietic cell transplantation (allo-HCT). Lysosomal acid lipase (LAL) mediates the intrinsic lipolysis of cells to generate free fatty acids (FFAs), which play an essential role in… read more here.
Keywords: donor cells; versus host; lysosomal acid; host disease ... See more keywords
Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?
Sign Up to like & getrecommendations! Published in 2017 at "Journal of clinical lipidology"
DOI: 10.1016/j.jacl.2016.11.002
Abstract: BACKGROUND Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder and an unrecognized cause of dyslipidemia. Patients usually present with dyslipidemia and altered liver function and mutations in LIPA gene are the underlying cause… read more here.
Keywords: familial hypercholesterolemia; acid lipase; lipase deficiency; lysosomal acid ... See more keywords
The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of hepatology"
DOI: 10.1016/j.jhep.2018.09.028
Abstract: BACKGROUND & AIMS Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive condition that may present in a mild form (cholesteryl ester storage disease [CESD]), which mimics non-alcoholic fatty liver disease (NAFLD). It has been… read more here.
Keywords: lal; condition; lysosomal acid; disease ... See more keywords
SEBELIPASE ALFA IN CHILDREN AND ADULTS WITH LYSOSOMAL ACID LIPASE DEFICIENCY: FINAL RESULTS OF THE ARISE STUDY.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of hepatology"
DOI: 10.1016/j.jhep.2021.10.026
Abstract: BACKGROUND & AIMS Children and adults with lysosomal acid lipase deficiency (LAL-D) experience cirrhosis and dyslipidemia from lysosomal accumulation of cholesteryl esters and triglycerides. Sebelipase alfa enzyme replacement therapy is indicated for individuals with LAL-D.… read more here.
Keywords: open label; sebelipase alfa; lysosomal acid; alfa ... See more keywords
Hepatic Lysosomal Acid Lipase Overexpression Worsens Hepatic Inflammation in Mice Fed a Western Diet.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of lipid research"
DOI: 10.1016/j.jlr.2021.100133
Abstract: Non-alcoholic fatty liver disease (NAFLD) is characterized by the accumulation of lipid droplets (LD) in hepatocytes. NAFLD development and progression is associated with an increase in hepatic cholesterol levels and decreased autophagy and lipophagy flux.… read more here.
Keywords: overexpression; fed western; western diet; inflammation ... See more keywords
Update on lysosomal acid lipase deficiency: Diagnosis, treatment and patient management.
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DOI: 10.1016/j.medcli.2016.12.044
Abstract: Lysosomal acid lipase deficiency (LALD) is an ultra-rare disease caused by a congenital disorder of the lipid metabolism, characterized by the deposition of cholesterol esters and triglycerides in the organism. In patients with no enzyme… read more here.
Keywords: lipase deficiency; treatment; lysosomal acid; disease ... See more keywords
Lysosomal acid lipase deficiency allograft recurrence and liver failure- clinical outcomes of 18 liver transplantation patients.
Sign Up to like & getrecommendations! Published in 2018 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2018.03.010
Abstract: Lysosomal acid lipase deficiency (LAL-D) results in progressive microvesicular hepatosteatosis, fibrosis, cirrhosis, dyslipidemia, and vascular disease. Interventions available prior to enzyme replacement therapy development, including lipid lowering medications, splenectomy, hematopoietic stem cell and liver transplantation… read more here.
Keywords: lysosomal acid; disease; acid lipase; transplantation ... See more keywords
Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2019.100479
Abstract: We report on a case of very rare autosomal recessive cholesteryl ester storage disease due to lysosomal acid lipase deficiency (LALD). LALD is caused by mutations in the lysosomal acid lipase A (LIPA) gene resulting… read more here.
Keywords: acid lipase; lysosomal acid; sebelipase alfa; patient ... See more keywords
Progressive macrophage accumulation in lysosomal acid lipase deficiency
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2020.100594
Abstract: Lysosomal acid lipase (LAL) deficiency (LAL-D) is a lysosomal lipid storage disorder in which the accumulation of cholesteryl esters and triglycerides predominantly in hepatocytes and cells of the macrophage-monocyte system is observed. The disturbance in… read more here.
Keywords: accumulation; macrophage accumulation; lysosomal acid; acid lipase ... See more keywords