PMID- 30795549
OWN - NLM
STAT- MEDLINE
DCOM- 20191127
LR  - 20200309
IS  - 2073-4409 (Print)
IS  - 2073-4409 (Electronic)
IS  - 2073-4409 (Linking)
VI  - 8
IP  - 2
DP  - 2019 Feb 21
TI  - Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function.
LID - 10.3390/cells8020187 [doi]
LID - 187
AB  - 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 alpha-beta 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.
FAU - Missaglia, Sara
AU  - Missaglia S
AUID- ORCID: 0000-0001-6551-6698
AD  - Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Universita 
      Cattolica del Sacro Cuore, 20145 Milan, Italy. sara.missaglia@unicatt.it.
AD  - Psychology Department, Universita Cattolica del Sacro Cuore, 20123 Milan, Italy. 
      sara.missaglia@unicatt.it.
FAU - Coleman, Rosalind A
AU  - Coleman RA
AUID- ORCID: 0000-0003-4379-3824
AD  - Department of Nutrition, University of North Carolina, Chapel Hill, NC 27599, 
      USA. rcoleman@unc.edu.
FAU - Mordente, Alvaro
AU  - Mordente A
AD  - Dipartimento di Scienze di Laboratorio ed Infettivologiche, Fondazione 
      Policlinico Universitario A. Gemelli IRCCS, 00168 Roma, Italy. 
      Alvaro.Mordente@unicatt.it.
AD  - Facolta di Scienze della Formazione, Universita Cattolica del Sacro Cuore, 20123 
      Milano, Italy. Alvaro.Mordente@unicatt.it.
FAU - Tavian, Daniela
AU  - Tavian D
AD  - Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Universita 
      Cattolica del Sacro Cuore, 20145 Milan, Italy. daniela.tavian@unicatt.it.
AD  - Psychology Department, Universita Cattolica del Sacro Cuore, 20123 Milan, Italy. 
      daniela.tavian@unicatt.it.
LA  - eng
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20190221
PL  - Switzerland
TA  - Cells
JT  - Cells
JID - 101600052
RN  - EC 2.3.1.51 (1-Acylglycerol-3-Phosphate O-Acyltransferase)
SB  - IM
MH  - 1-Acylglycerol-3-Phosphate O-Acyltransferase/chemistry/metabolism
MH  - Animals
MH  - Humans
MH  - Lipid Droplets/*metabolism/ultrastructure
MH  - Lipid Metabolism, Inborn Errors/*metabolism
MH  - *Models, Biological
MH  - Muscles/pathology/ultrastructure
PMC - PMC6406896
OTO - NOTNLM
OT  - ABHD5
OT  - Jordans' anomaly
OT  - NLSD
OT  - PNPLA2
OT  - cardiomyopathy
OT  - fibroblasts
OT  - ichthyosis
OT  - induced pluripotent stem cells
OT  - lipid droplet
OT  - lipid metabolism
OT  - liver steatosis
OT  - myopathy
COIS- The authors declare no conflict of interest.
EDAT- 2019/02/24 06:00
MHDA- 2019/02/24 06:01
PMCR- 2019/02/01
CRDT- 2019/02/24 06:00
PHST- 2019/01/24 00:00 [received]
PHST- 2019/02/14 00:00 [revised]
PHST- 2019/02/19 00:00 [accepted]
PHST- 2019/02/24 06:00 [entrez]
PHST- 2019/02/24 06:00 [pubmed]
PHST- 2019/02/24 06:01 [medline]
PHST- 2019/02/01 00:00 [pmc-release]
AID - cells8020187 [pii]
AID - cells-08-00187 [pii]
AID - 10.3390/cells8020187 [doi]
PST - epublish
SO  - Cells. 2019 Feb 21;8(2):187. doi: 10.3390/cells8020187.