{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T19:37:01Z","timestamp":1790797021529,"version":"4.1.0"},"reference-count":124,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2019,2,21]],"date-time":"2019-02-21T00:00:00Z","timestamp":1550707200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GGP14066D"],"award-info":[{"award-number":["GGP14066D"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000009","name":"Foundation for the National Institutes of Health","doi-asserted-by":"publisher","award":["DK56598"],"award-info":[{"award-number":["DK56598"]}],"id":[{"id":"10.13039\/100000009","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Neutral lipid storage disease with myopathy (NLSDM) and with ichthyosis (NLSDI) are rare autosomal recessive disorders caused by mutations in the PNPLA2 and in the ABHD5\/CGI58 genes, respectively. These genes encode the adipose triglyceride lipase (ATGL) and \u03b1-\u03b2 hydrolase domain 5 (ABHD5) proteins, which play key roles in the function of lipid droplets (LDs). LDs, the main cellular storage sites of triacylglycerols and sterol esters, are highly dynamic organelles. Indeed, LDs are critical for both lipid metabolism and energy homeostasis. Partial or total PNPLA2 or ABHD5\/CGI58 knockdown is characteristic of the cells of NLSD patients; thus, these cells are natural models with which one can unravel LD function. In this review we firstly summarize genetic and clinical data collected from NLSD patients, focusing particularly on muscle, skin, heart, and liver damage due to impaired LD function. Then, we discuss how NLSD cells were used to investigate and expand the current structural and functional knowledge of LDs.<\/jats:p>","DOI":"10.3390\/cells8020187","type":"journal-article","created":{"date-parts":[[2019,2,22]],"date-time":"2019-02-22T03:49:44Z","timestamp":1550807384000},"page":"187","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":87,"title":["Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function"],"prefix":"10.3390","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6551-6698","authenticated-orcid":false,"given":"Sara","family":"Missaglia","sequence":"first","affiliation":[{"name":"Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Universit\u00e0 Cattolica del Sacro Cuore, 20145 Milan, Italy"},{"name":"Psychology Department, Universit\u00e0 Cattolica del Sacro Cuore, 20123 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4379-3824","authenticated-orcid":false,"given":"Rosalind A.","family":"Coleman","sequence":"additional","affiliation":[{"name":"Department of Nutrition, University of North Carolina, Chapel Hill, NC 27599, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alvaro","family":"Mordente","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze di Laboratorio ed Infettivologiche, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, Italy"},{"name":"Facolt\u00e0 di Scienze della Formazione, Universit\u00e0 Cattolica del Sacro Cuore, 20123 Milano, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Tavian","sequence":"additional","affiliation":[{"name":"Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Universit\u00e0 Cattolica del Sacro Cuore, 20145 Milan, Italy"},{"name":"Psychology Department, Universit\u00e0 Cattolica del Sacro Cuore, 20123 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2019,2,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1146\/annurev-biochem-061009-102430","article-title":"Lipid droplets and cellular lipid metabolism","volume":"81","author":"Walther","year":"2012","journal-title":"Annu. Rev. 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