{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T19:57:04Z","timestamp":1793908624142,"version":"4.8.0"},"reference-count":104,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100010109","name":"Medical University of Graz","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010109","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009818","name":"Amt der Steierm\u00e4rkischen Landesregierung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009818","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002428","name":"Austrian Science Fund","doi-asserted-by":"publisher","award":["P32400"],"award-info":[{"award-number":["P32400"]}],"id":[{"id":"10.13039\/501100002428","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002428","name":"Austrian Science Fund","doi-asserted-by":"publisher","award":["P30882"],"award-info":[{"award-number":["P30882"]}],"id":[{"id":"10.13039\/501100002428","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002428","name":"Austrian Science Fund","doi-asserted-by":"publisher","award":["DK-MCD W1226"],"award-info":[{"award-number":["DK-MCD W1226"]}],"id":[{"id":"10.13039\/501100002428","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002428","name":"Austrian Science Fund","doi-asserted-by":"publisher","award":["SFB F73"],"award-info":[{"award-number":["SFB F73"]}],"id":[{"id":"10.13039\/501100002428","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Trends in Molecular Medicine"],"published-print":{"date-parts":[[2023,6]]},"DOI":"10.1016\/j.molmed.2023.03.001","type":"journal-article","created":{"date-parts":[[2023,4,5]],"date-time":"2023-04-05T21:43:33Z","timestamp":1680731013000},"page":"425-438","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":76,"title":["Recent insights into lysosomal acid lipase deficiency"],"prefix":"10.1016","volume":"29","author":[{"given":"Melanie","family":"Korbelius","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina B.","family":"Kuentzel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan","family":"Bradi\u0107","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nemanja","family":"Vuji\u0107","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1357-7573","authenticated-orcid":false,"given":"Dagmar","family":"Kratky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.molmed.2023.03.001_bb0005","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1038\/nrm.2017.76","article-title":"Cytosolic lipolysis and lipophagy: two sides of the same coin","volume":"18","author":"Zechner","year":"2017","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.molmed.2023.03.001_bb0010","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1093\/jb\/mvi043","article-title":"Systematic mutagenesis of potential glycosylation sites of lysosomal acid lipase","volume":"137","author":"Zschenker","year":"2005","journal-title":"J. Biochem."},{"key":"10.1016\/j.molmed.2023.03.001_bb0015","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1194\/jlr.RA120000748","article-title":"Crystal structure of human lysosomal acid lipase and its implications in cholesteryl ester storage disease[S]","volume":"61","author":"Rajamohan","year":"2020","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.molmed.2023.03.001_bb0020","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1038\/nature07976","article-title":"Autophagy regulates lipid metabolism","volume":"458","author":"Singh","year":"2009","journal-title":"Nature"},{"key":"10.1016\/j.molmed.2023.03.001_bb0025","doi-asserted-by":"crossref","first-page":"4932","DOI":"10.1091\/mbc.e09-07-0559","article-title":"Macrophages create an acidic extracellular hydrolytic compartment to digest aggregated lipoproteins","volume":"20","author":"Haka","year":"2009","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.molmed.2023.03.001_bb0030","doi-asserted-by":"crossref","first-page":"1430","DOI":"10.1161\/01.ATV.0000077207.49221.06","article-title":"Lysosomal enzymes are released from cultured human macrophages, hydrolyze LDL in vitro, and are present extracellularly in human atherosclerotic lesions","volume":"23","author":"Hakala","year":"2003","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"10.1016\/j.molmed.2023.03.001_bb0035","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1016\/j.bbalip.2019.01.007","article-title":"Hepatocyte-specific lysosomal acid lipase deficiency protects mice from diet-induced obesity but promotes hepatic inflammation","volume":"1864","author":"Leopold","year":"2019","journal-title":"Biochim. Biophys. Acta Mol. Cell Biol. Lipids"},{"key":"10.1016\/j.molmed.2023.03.001_bb0040","doi-asserted-by":"crossref","first-page":"9118","DOI":"10.1074\/jbc.RA118.007201","article-title":"Hepatocyte-specific deletion of lysosomal acid lipase leads to cholesteryl ester but not triglyceride or retinyl ester accumulation","volume":"294","author":"Pajed","year":"2019","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.molmed.2023.03.001_bb0045","doi-asserted-by":"crossref","DOI":"10.1038\/cddis.2013.404","article-title":"FoxO1 controls lysosomal acid lipase in adipocytes: implication of lipophagy during nutrient restriction and metformin treatment","volume":"4","author":"Lettieri Barbato","year":"2013","journal-title":"Cell Death Dis."},{"key":"10.1016\/j.molmed.2023.03.001_bb0050","doi-asserted-by":"crossref","first-page":"1942","DOI":"10.1161\/ATVBAHA.114.303342","article-title":"Induction of lysosomal biogenesis in atherosclerotic macrophages can rescue lipid-induced lysosomal dysfunction and downstream sequelae","volume":"34","author":"Emanuel","year":"2014","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"10.1016\/j.molmed.2023.03.001_bb0055","doi-asserted-by":"crossref","first-page":"1455","DOI":"10.1080\/15548627.2019.1609847","article-title":"Lysosomal inhibition attenuates peroxisomal gene transcription via suppression of PPARA and PPARGC1A levels","volume":"15","author":"Tan","year":"2019","journal-title":"Autophagy"},{"key":"10.1016\/j.molmed.2023.03.001_bb0060","doi-asserted-by":"crossref","first-page":"1529","DOI":"10.18632\/oncotarget.6414","article-title":"Critical role of PPAR\u03b3 in myeloid-derived suppressor cell-stimulated cancer cell proliferation and metastasis","volume":"7","author":"Zhao","year":"2016","journal-title":"Oncotarget"},{"key":"10.1016\/j.molmed.2023.03.001_bb0065","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.atherosclerosis.2014.04.003","article-title":"Lysosomal acid lipase deficiency \u2013 an under-recognized cause of dyslipidaemia and liver dysfunction","volume":"235","author":"Reiner","year":"2014","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.molmed.2023.03.001_bb0070","first-page":"282","article-title":"Generalized xanthomatosis with calcified adrenals","volume":"91","author":"Abramov","year":"1956","journal-title":"AMA J. Dis. Child"},{"key":"10.1016\/j.molmed.2023.03.001_bb0075","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1016\/S2468-1253(17)30052-3","article-title":"Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency","volume":"2","author":"Pericleous","year":"2017","journal-title":"Lancet Gastroenterol. Hepatol."},{"key":"10.1016\/j.molmed.2023.03.001_bb0080","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1038\/gim.2015.108","article-title":"Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants","volume":"18","author":"Jones","year":"2016","journal-title":"Genet. Med."},{"key":"10.1016\/j.molmed.2023.03.001_bb0085","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.ymgme.2018.03.010","article-title":"Lysosomal acid lipase deficiency allograft recurrence and liver failure- clinical outcomes of 18 liver transplantation patients","volume":"124","author":"Bernstein","year":"2018","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.molmed.2023.03.001_bb0090","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.ymgme.2009.02.007","article-title":"Cholesteryl ester storage disease (CESD) due to novel mutations in the LIPA gene","volume":"97","author":"Pisciotta","year":"2009","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.molmed.2023.03.001_bb0095","doi-asserted-by":"crossref","first-page":"1230","DOI":"10.1016\/j.jhep.2013.02.014","article-title":"Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease","volume":"58","author":"Bernstein","year":"2013","journal-title":"J. Hepatol."},{"key":"10.1016\/j.molmed.2023.03.001_bb0100","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1016\/j.jhep.2018.09.028","article-title":"The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: a rare condition that mimics NAFLD","volume":"70","author":"Carter","year":"2019","journal-title":"J. Hepatol."},{"key":"10.1016\/j.molmed.2023.03.001_bb0105","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1177\/000456329703400418","article-title":"Asymptomatic cholesteryl ester storage disease in an adult controlled with simvastatin","volume":"34","author":"Iverson","year":"1997","journal-title":"Ann. Clin. Biochem."},{"key":"10.1016\/j.molmed.2023.03.001_bb0110","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/S0168-8278(97)80092-X","article-title":"A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild phenotype and improvement on lovastatin","volume":"27","author":"Gasche","year":"1997","journal-title":"J. Hepatol."},{"key":"10.1016\/j.molmed.2023.03.001_bb0115","doi-asserted-by":"crossref","first-page":"2007","DOI":"10.1002\/humu.23837","article-title":"Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency","volume":"40","author":"Del Angel","year":"2019","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.molmed.2023.03.001_bb0120","doi-asserted-by":"crossref","first-page":"2718","DOI":"10.1073\/pnas.91.7.2718","article-title":"Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease","volume":"91","author":"Anderson","year":"1994","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.molmed.2023.03.001_bb0125","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/j.cca.2017.05.027","article-title":"Best practice in the measurement and interpretation of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2","volume":"471","author":"Lukacs","year":"2017","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.molmed.2023.03.001_bb0130","doi-asserted-by":"crossref","DOI":"10.1016\/j.molmet.2022.101510","article-title":"Off-target effects of the lysosomal acid lipase inhibitors Lalistat-1 and Lalistat-2 on neutral lipid hydrolases","volume":"61","author":"Bradi\u0107","year":"2022","journal-title":"Mol. Metab."},{"key":"10.1016\/j.molmed.2023.03.001_bb0135","doi-asserted-by":"crossref","first-page":"1207","DOI":"10.1016\/j.cca.2012.03.019","article-title":"A new method for the measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2","volume":"413","author":"Hamilton","year":"2012","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.molmed.2023.03.001_bb0140","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2022.936121","article-title":"Early discovery of children with lysosomal acid lipase deficiency with the Universal Familial Hypercholesterolemia Screening Program","volume":"13","author":"Sustar","year":"2022","journal-title":"Front. Genet."},{"key":"10.1016\/j.molmed.2023.03.001_bb0145","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1016\/j.jacl.2016.11.002","article-title":"Lysosomal acid lipase deficiency: a hidden disease among cohorts of familial hypercholesterolemia?","volume":"11","author":"Chora","year":"2017","journal-title":"J. Clin. Lipidol."},{"key":"10.1016\/j.molmed.2023.03.001_bb0150","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1016\/j.jacl.2015.07.008","article-title":"Identification and metabolic profiling of patients with lysosomal acid lipase deficiency","volume":"9","author":"Pullinger","year":"2015","journal-title":"J. Clin. Lipidol."},{"key":"10.1016\/j.molmed.2023.03.001_bb0155","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2022.1013266","article-title":"Lysosomal acid lipase deficiency: a rare inherited dyslipidemia but potential ubiquitous factor in the development of atherosclerosis and fatty liver disease","volume":"13","author":"Besler","year":"2022","journal-title":"Front. Genet."},{"key":"10.1016\/j.molmed.2023.03.001_bb0160","doi-asserted-by":"crossref","first-page":"1347","DOI":"10.1093\/hmg\/7.9.1347","article-title":"Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage","volume":"7","author":"Du","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.molmed.2023.03.001_bb0165","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1016\/S0022-2275(20)31157-3","article-title":"Lysosomal acid lipase-deficient mice: depletion of white and brown fat, severe hepatosplenomegaly, and shortened life span","volume":"42","author":"Du","year":"2001","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.molmed.2023.03.001_bb0170","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1016\/j.bbalip.2018.01.011","article-title":"Lysosomal acid lipase regulates fatty acid channeling in brown adipose tissue to maintain thermogenesis","volume":"1863","author":"Duta-Mare","year":"2018","journal-title":"Biochim. Biophys. Acta Mol. Cell Biol. Lipids"},{"key":"10.1016\/j.molmed.2023.03.001_bb0175","doi-asserted-by":"crossref","first-page":"76","DOI":"10.2337\/db20-0578","article-title":"Lysosomal acid lipase drives adipocyte cholesterol homeostasis and modulates lipid storage in obesity, independent of autophagy","volume":"70","author":"Gamblin","year":"2021","journal-title":"Diabetes"},{"key":"10.1016\/j.molmed.2023.03.001_bb0180","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1080\/21623945.2021.2013416","article-title":"Lysosomal acid lipase promotes endothelial proliferation in cold-activated adipose tissue","volume":"11","author":"Fischer","year":"2022","journal-title":"Adipocyte"},{"key":"10.1016\/j.molmed.2023.03.001_bb0185","doi-asserted-by":"crossref","first-page":"1743","DOI":"10.1007\/s00125-016-3968-6","article-title":"Lysosomal acid lipase regulates VLDL synthesis and insulin sensitivity in mice","volume":"59","author":"Radovi\u0107","year":"2016","journal-title":"Diabetologia"},{"key":"10.1016\/j.molmed.2023.03.001_bb0190","doi-asserted-by":"crossref","first-page":"2619","DOI":"10.3390\/cells10102619","article-title":"Impaired bile acid metabolism and gut dysbiosis in mice lacking lysosomal acid lipase","volume":"10","author":"Sachdev","year":"2021","journal-title":"Cells"},{"key":"10.1016\/j.molmed.2023.03.001_bb0195","doi-asserted-by":"crossref","first-page":"10416","DOI":"10.3390\/ijms221910416","article-title":"Defective lysosomal lipolysis causes prenatal lipid accumulation and exacerbates immediately after birth","volume":"22","author":"Kuentzel","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.molmed.2023.03.001_bb0200","doi-asserted-by":"crossref","DOI":"10.1111\/cpr.12452","article-title":"Lysosomal acid lipase promotes cholesterol ester metabolism and drives clear cell renal cell carcinoma progression","volume":"51","author":"Wang","year":"2018","journal-title":"Cell Prolif."},{"key":"10.1016\/j.molmed.2023.03.001_bb0205","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.156623","article-title":"Lysosomal acid lipase, CSF1R, and PD-L1 determine functions of CD11c+ myeloid-derived suppressor cells","volume":"7","author":"Zhao","year":"2022","journal-title":"JCI Insight"},{"key":"10.1016\/j.molmed.2023.03.001_bb0210","doi-asserted-by":"crossref","DOI":"10.1016\/j.jlr.2021.100133","article-title":"Hepatic lysosomal acid lipase overexpression worsens hepatic inflammation in mice fed a Western diet","volume":"62","author":"Lopresti","year":"2021","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.molmed.2023.03.001_bb0215","article-title":"Hepatic lysosomal acid lipase drives the autophagy-lysosomal response and alleviates cholesterol metabolic disorder in ApoE deficient mice","volume":"1866","author":"Li","year":"2021","journal-title":"Biochim. Biophys. Acta Mol. Cell Biol. Lipids"},{"key":"10.1016\/j.molmed.2023.03.001_bb0220","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1097\/00041433-200410000-00007","article-title":"Lysosomal acid lipase and atherosclerosis","volume":"15","author":"Du","year":"2004","journal-title":"Curr. Opin. Lipidol."},{"key":"10.1016\/j.molmed.2023.03.001_bb0225","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1161\/01.ATV.0000107030.22053.1e","article-title":"Reduction of atherosclerotic plaques by lysosomal acid lipase supplementation","volume":"24","author":"Du","year":"2004","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"10.1016\/j.molmed.2023.03.001_bb0230","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1161\/CIRCGENETICS.110.958728","article-title":"A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease","volume":"4","author":"Wild","year":"2011","journal-title":"Circ. Cardiovasc. Genet."},{"key":"10.1016\/j.molmed.2023.03.001_bb0235","article-title":"Large-scale gene-centric analysis identifies novel variants for coronary artery disease","volume":"7","author":"IBC 50K CAD Consortium","year":"2011","journal-title":"PLoS Genet."},{"key":"10.1016\/j.molmed.2023.03.001_bb0240","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1038\/ng.782","article-title":"A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease","volume":"43","author":"Coronary Artery Disease (C4D) Genetics Consortium","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.molmed.2023.03.001_bb0245","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1161\/ATVBAHA.117.309344","article-title":"LIPA Variants in genome-wide association studies of coronary artery diseases: loss-of-function or gain-of-function?","volume":"37","author":"Zhang","year":"2017","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"10.1016\/j.molmed.2023.03.001_bb0250","doi-asserted-by":"crossref","first-page":"1050","DOI":"10.1161\/ATVBAHA.116.308734","article-title":"Coronary artery disease-associated LIPA coding variant rs1051338 reduces lysosomal acid lipase levels and activity in lysosomes","volume":"37","author":"Morris","year":"2017","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"10.1016\/j.molmed.2023.03.001_bb0255","doi-asserted-by":"crossref","first-page":"2480","DOI":"10.1161\/ATVBAHA.119.313443","article-title":"Functional characterization of lipa (lysosomal acid lipase) variants associated with coronary artery disease","volume":"39","author":"Evans","year":"2019","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"10.1016\/j.molmed.2023.03.001_bb0260","doi-asserted-by":"crossref","first-page":"3","DOI":"10.3389\/fcell.2015.00003","article-title":"Lysosomal acid lipase: at the crossroads of normal and atherogenic cholesterol metabolism","volume":"3","author":"Dubland","year":"2015","journal-title":"Front. Cell Dev. Biol."},{"key":"10.1016\/j.molmed.2023.03.001_bb0265","doi-asserted-by":"crossref","first-page":"886","DOI":"10.1080\/15548627.2022.2108252","article-title":"Use of acidic nanoparticles to rescue macrophage lysosomal dysfunction in atherosclerosis","volume":"19","author":"Zhang","year":"2022","journal-title":"Autophagy"},{"key":"10.1016\/j.molmed.2023.03.001_bb0270","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1038\/ni.2956","article-title":"Cell-intrinsic lysosomal lipolysis is essential for alternative activation of macrophages","volume":"15","author":"Huang","year":"2014","journal-title":"Nat. Immunol."},{"key":"10.1016\/j.molmed.2023.03.001_bb0275","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/ni.3366","article-title":"Fatty acid oxidation in macrophage polarization","volume":"17","author":"Nomura","year":"2016","journal-title":"Nat. Immunol."},{"key":"10.1016\/j.molmed.2023.03.001_bb0280","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1016\/j.cmet.2011.03.023","article-title":"Autophagy regulates cholesterol efflux from macrophage foam cells via lysosomal acid lipase","volume":"13","author":"Ouimet","year":"2011","journal-title":"Cell Metab."},{"key":"10.1016\/j.molmed.2023.03.001_bb0285","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1161\/CIRCRESAHA.117.312333","article-title":"Lysosomal cholesterol hydrolysis couples efferocytosis to anti-inflammatory oxysterol production","volume":"122","author":"Viaud","year":"2018","journal-title":"Circ. Res."},{"key":"10.1016\/j.molmed.2023.03.001_bb0290","doi-asserted-by":"crossref","first-page":"1191","DOI":"10.1161\/ATVBAHA.117.310507","article-title":"LAL (lysosomal acid lipase) promotes reverse cholesterol transport in vitro and in vivo","volume":"38","author":"Bowden","year":"2018","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"10.1016\/j.molmed.2023.03.001_bb0295","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1161\/ATVBAHA.119.312136","article-title":"Lysosomal acid lipase in lipid metabolism and beyond","volume":"39","author":"Li","year":"2019","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"10.1016\/j.molmed.2023.03.001_bb0300","doi-asserted-by":"crossref","first-page":"1393","DOI":"10.1093\/cvr\/cvz127","article-title":"Immunometabolic function of cholesterol in cardiovascular disease and beyond","volume":"115","author":"Yvan-Charvet","year":"2019","journal-title":"Cardiovasc. Res."},{"key":"10.1016\/j.molmed.2023.03.001_bb0305","doi-asserted-by":"crossref","first-page":"40037","DOI":"10.18632\/oncotarget.16673","article-title":"Lysosomal lipid hydrolysis provides substrates for lipid mediator synthesis in murine macrophages","volume":"8","author":"Schlager","year":"2017","journal-title":"Oncotarget"},{"key":"10.1016\/j.molmed.2023.03.001_bb0310","doi-asserted-by":"crossref","first-page":"e354","DOI":"10.1161\/ATVBAHA.120.316063","article-title":"Low LAL (lysosomal acid lipase) expression by smooth muscle cells relative to macrophages as a mechanism for arterial foam cell formation","volume":"41","author":"Dubland","year":"2021","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"10.1016\/j.molmed.2023.03.001_bb0315","doi-asserted-by":"crossref","first-page":"1080","DOI":"10.1016\/j.metabol.2015.11.008","article-title":"Histopathology of nonalcoholic fatty liver disease and nonalcoholic steatohepatitis","volume":"65","author":"Brown","year":"2016","journal-title":"Metabolism"},{"key":"10.1016\/j.molmed.2023.03.001_bb0320","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1016\/j.ebiom.2015.05.018","article-title":"Reduced lysosomal acid lipase activity in adult patients with non-alcoholic fatty liver disease","volume":"2","author":"Baratta","year":"2015","journal-title":"eBioMedicine"},{"key":"10.1016\/j.molmed.2023.03.001_bb0325","doi-asserted-by":"crossref","first-page":"312","DOI":"10.3390\/ijms17030312","article-title":"Low serum lysosomal acid lipase activity correlates with advanced liver disease","volume":"17","author":"Shteyer","year":"2016","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.molmed.2023.03.001_bb0330","doi-asserted-by":"crossref","first-page":"2301","DOI":"10.1111\/liv.14206","article-title":"Lysosomal acid lipase activity and liver fibrosis in the clinical continuum of non-alcoholic fatty liver disease","volume":"39","author":"Baratta","year":"2019","journal-title":"Liver Int."},{"key":"10.1016\/j.molmed.2023.03.001_bb0335","doi-asserted-by":"crossref","first-page":"78","DOI":"10.5604\/01.3001.0012.7865","article-title":"Lysosomal acid lipase: can it be a new non-invasive serum biomarker of cryptogenic liver fibrosis and cirrhosis?","volume":"18","author":"Gravito-Soares","year":"2019","journal-title":"Ann. Hepatol."},{"key":"10.1016\/j.molmed.2023.03.001_bb0340","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1016\/j.dld.2016.04.014","article-title":"Reduced lysosomal acid lipase activity \u2013 a potential role in the pathogenesis of non alcoholic fatty liver disease in pediatric patients","volume":"48","author":"Selvakumar","year":"2016","journal-title":"Dig. Liver Dis."},{"key":"10.1016\/j.molmed.2023.03.001_bb0345","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/j.atherosclerosis.2017.03.038","article-title":"Severe reduction of blood lysosomal acid lipase activity in cryptogenic cirrhosis: a nationwide multicentre cohort study","volume":"262","author":"Angelico","year":"2017","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.molmed.2023.03.001_bb0350","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1016\/j.clinbiochem.2017.02.013","article-title":"Platelet count may impact on lysosomal acid lipase activity determination in dried blood spot","volume":"50","author":"Vespasiani-Gentilucci","year":"2017","journal-title":"Clin. Biochem."},{"key":"10.1016\/j.molmed.2023.03.001_bb0355","article-title":"Reduced lysosomal acid lipase activity in blood and platelets is associated with nonalcoholic fatty liver disease","volume":"11","author":"Ferri","year":"2020","journal-title":"Clin. Transl. Gastroenterol."},{"key":"10.1016\/j.molmed.2023.03.001_bb0360","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1203\/00006450-199211000-00015","article-title":"Safety and efficacy of treatment of pediatric cholesteryl ester storage disease with lovastatin","volume":"32","author":"Glueck","year":"1992","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.molmed.2023.03.001_bb0365","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1002\/hep.1840110509","article-title":"Cholesteryl ester storage disease: hepatopathology and effects of therapy with lovastatin","volume":"11","author":"Di Bisceglie","year":"1990","journal-title":"Hepatology"},{"key":"10.1016\/j.molmed.2023.03.001_bb0370","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1007\/BF01799650","article-title":"Long-term treatment of a homozygous cholesteryl ester storage disease with combined cholestyramine and lovastatin","volume":"15","author":"Yokoyama","year":"1992","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.molmed.2023.03.001_bb0375","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1016\/S0022-2275(20)41416-6","article-title":"Cholesteryl ester storage disease: complex molecular effects of chronic lovastatin therapy","volume":"33","author":"Levy","year":"1992","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.molmed.2023.03.001_bb0380","doi-asserted-by":"crossref","first-page":"1692","DOI":"10.1172\/JCI113259","article-title":"Suppression of apolipoprotein B production during treatment of cholesteryl ester storage disease with lovastatin. Implications for regulation of apolipoprotein B synthesis","volume":"80","author":"Ginsberg","year":"1987","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.molmed.2023.03.001_bb0385","first-page":"2628","article-title":"A case of abdominal pain with dyslipidemia: difficulties diagnosing cholesterol ester storage disease","volume":"19","author":"Cameron","year":"2015","journal-title":"Eur. Rev. Med. Pharmacol. Sci."},{"key":"10.1016\/j.molmed.2023.03.001_bb0390","doi-asserted-by":"crossref","first-page":"1280","DOI":"10.1016\/j.jacl.2016.07.005","article-title":"Options to consider when treating lysosomal acid lipase deficiency","volume":"10","author":"Block","year":"2016","journal-title":"J. Clin. Lipidol."},{"key":"10.1016\/j.molmed.2023.03.001_bb0395","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1186\/s13023-018-0768-8","article-title":"Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency","volume":"13","author":"Di Rocco","year":"2018","journal-title":"Orphanet. J. Rare Dis."},{"key":"10.1016\/j.molmed.2023.03.001_bb0400","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1186\/1476-511X-4-26","article-title":"Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease","volume":"4","author":"Tadiboyina","year":"2005","journal-title":"Lipids Health Dis."},{"key":"10.1016\/j.molmed.2023.03.001_bb0405","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1111\/petr.12748","article-title":"Successful long-term outcome of liver transplantation in late-onset lysosomal acid lipase deficiency","volume":"20","author":"Sreekantam","year":"2016","journal-title":"Pediatr. Transplant."},{"key":"10.1016\/j.molmed.2023.03.001_bb0410","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1056\/NEJMoa1501365","article-title":"A Phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency","volume":"373","author":"Burton","year":"2015","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.molmed.2023.03.001_bb0415","doi-asserted-by":"crossref","first-page":"950","DOI":"10.1002\/hep.26289","article-title":"Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease","volume":"58","author":"Balwani","year":"2013","journal-title":"Hepatology"},{"key":"10.1016\/j.molmed.2023.03.001_bb0420","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1016\/j.ymgme.2011.12.012","article-title":"Mannose-6-phosphate pathway: a review on its role in lysosomal function and dysfunction","volume":"105","author":"Coutinho","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.molmed.2023.03.001_bb0425","doi-asserted-by":"crossref","first-page":"1135","DOI":"10.1016\/j.jhep.2014.06.022","article-title":"Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency","volume":"61","author":"Valayannopoulos","year":"2014","journal-title":"J. Hepatol."},{"key":"10.1016\/j.molmed.2023.03.001_bb0430","doi-asserted-by":"crossref","first-page":"2203","DOI":"10.1111\/liv.14603","article-title":"Sebelipase alfa for lysosomal acid lipase deficiency: 5-year treatment experience from a phase 2 open-label extension study","volume":"40","author":"Malinova","year":"2020","journal-title":"Liver Int."},{"key":"10.1016\/j.molmed.2023.03.001_bb0435","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1016\/j.jhep.2021.10.026","article-title":"Sebelipase alfa in children and adults with lysosomal acid lipase deficiency: final results of the ARISE study","volume":"76","author":"Burton","year":"2022","journal-title":"J. Hepatol."},{"key":"10.1016\/j.molmed.2023.03.001_bb0440","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1097\/MPG.0000000000003452","article-title":"Long-term sebelipase alfa treatment in children and adults with lysosomal acid lipase deficiency","volume":"74","author":"Burton","year":"2022","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"10.1016\/j.molmed.2023.03.001_bb0445","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1186\/s13023-021-02134-3","article-title":"Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up","volume":"16","author":"Demaret","year":"2021","journal-title":"Orphanet. J. Rare Dis."},{"key":"10.1016\/j.molmed.2023.03.001_bb0450","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/s13023-020-01577-4","article-title":"Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies","volume":"16","author":"Vijay","year":"2021","journal-title":"Orphanet. J. Rare Dis."},{"key":"10.1016\/j.molmed.2023.03.001_bb0455","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1002\/ajmg.1320260324","article-title":"Cholesteryl ester storage disease: pathologic changes in an affected fetus","volume":"26","author":"Desai","year":"1987","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.molmed.2023.03.001_bb0460","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1186\/s13023-017-0587-3","article-title":"Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study","volume":"12","author":"Jones","year":"2017","journal-title":"Orphanet. J. Rare Dis."},{"key":"10.1016\/j.molmed.2023.03.001_bb0465","series-title":"CADTH Canadian Drug Expert Committee Recommendation: Sebelipase alfa (Kanuma \u2013 Alexion Pharmaceuticals, Inc.): Indication: Lysosomal Acid Lipase Deficiency","article-title":"CADTH Common drug reviews","author":"RecommendationCCDEC","year":"2018"},{"key":"10.1016\/j.molmed.2023.03.001_bb0470","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1038\/sj.bmt.1702557","article-title":"Wolman disease successfully treated by bone marrow transplantation","volume":"26","author":"Krivit","year":"2000","journal-title":"Bone Marrow Transplant."},{"key":"10.1016\/j.molmed.2023.03.001_bb0475","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1038\/bmt.2008.273","article-title":"Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease","volume":"43","author":"Tolar","year":"2009","journal-title":"Bone Marrow Transplant."},{"key":"10.1016\/j.molmed.2023.03.001_bb0480","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1038\/bmt.2009.57","article-title":"Pathological evidence of Wolman's disease following hematopoietic stem cell transplantation despite correction of lysosomal acid lipase activity","volume":"44","author":"Gramatges","year":"2009","journal-title":"Bone Marrow Transplant."},{"key":"10.1016\/j.molmed.2023.03.001_bb0485","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1007\/s00431-006-0298-6","article-title":"Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation","volume":"166","author":"Stein","year":"2007","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.molmed.2023.03.001_bb0490","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.phoj.2022.10.251","article-title":"Successful matched unrelated donor hematopoietic stem cell transplantation for infantile Wolman disease","volume":"8","author":"Jayakumar","year":"2023","journal-title":"Pediatr. Hematol. Oncol. J."},{"key":"10.1016\/j.molmed.2023.03.001_bb0495","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1186\/s13023-021-01849-7","article-title":"Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease","volume":"16","author":"Potter","year":"2021","journal-title":"Orphanet. J. Rare Dis."},{"key":"10.1016\/j.molmed.2023.03.001_bb0500","doi-asserted-by":"crossref","DOI":"10.1038\/s41409-023-01918-4","article-title":"Outcome of haematopoietic cell transplantation in children with lysosomal acid lipase deficiency: a study on behalf of the EBMT Inborn Errors Working Party","author":"Lum","year":"2023","journal-title":"Bone Marrow Transplant."},{"key":"10.1016\/j.molmed.2023.03.001_bb0505","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1016\/j.omtm.2022.08.001","article-title":"Therapeutic efficacy of rscAAVrh74.miniCMV.LIPA gene therapy in a mouse model of lysosomal acid lipase deficiency","volume":"26","author":"Lam","year":"2022","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"10.1016\/j.molmed.2023.03.001_bb0510","doi-asserted-by":"crossref","first-page":"6077","DOI":"10.1039\/D2BM00859A","article-title":"Current knowledge on the tissue distribution of mRNA nanocarriers for therapeutic protein expression","volume":"10","author":"Zadory","year":"2022","journal-title":"Biomater. Sci."},{"key":"10.1016\/j.molmed.2023.03.001_bb0515","doi-asserted-by":"crossref","first-page":"2379","DOI":"10.1016\/j.ajpath.2015.05.021","article-title":"Hepatocyte-specific expression of human lysosome acid lipase corrects liver inflammation and tumor metastasis in lal\u2013\/\u2013 mice","volume":"185","author":"Du","year":"2015","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.molmed.2023.03.001_bb0520","doi-asserted-by":"crossref","first-page":"916","DOI":"10.2353\/ajpath.2006.051327","article-title":"Macrophage-specific expression of human lysosomal acid lipase corrects inflammation and pathogenic phenotypes in lal\u2013\/\u2013 mice","volume":"169","author":"Yan","year":"2006","journal-title":"Am. J. Pathol."}],"container-title":["Trends in Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1471491423000515?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1471491423000515?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T19:52:16Z","timestamp":1778615536000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1471491423000515"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6]]},"references-count":104,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,6]]}},"alternative-id":["S1471491423000515"],"URL":"https:\/\/doi.org\/10.1016\/j.molmed.2023.03.001","relation":{},"ISSN":["1471-4914"],"issn-type":[{"value":"1471-4914","type":"print"}],"subject":[],"published":{"date-parts":[[2023,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Recent insights into lysosomal acid lipase deficiency","name":"articletitle","label":"Article Title"},{"value":"Trends in Molecular Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.molmed.2023.03.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}