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The minor allele of the missense polymorphism Ser251Pro in perilipin 2 (PLIN2) disrupts an α-helix, affects lipolysis, and is associated with reduced plasma triglyceride concentration in humans.

Abstract:

Perilipin 2 (PLIN2) is the most abundant lipid droplet (LD)-associated protein in nonadipose tissue, and its expression correlates with intracellular lipid accumulation. Here we identified a missense polymorphism, Ser251Pro, that has major effect on protein structure and function, along with an influence on human plasma triglyceride concentration. The evolutionarily conserved Ser251Pro polymorphism was identified with the ClustalW program. Structure modeling using 3D-JigSaw and the Chimera pa...

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Publication status:
Published

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Publisher copy:
10.1096/fj.13-228759

Authors


Aminoff, A More by this author
Perman Sundelin, J More by this author
Mannila, MN More by this author
Gustafsson, P More by this author
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Journal:
FASEB journal : official publication of the Federation of American Societies for Experimental Biology
Volume:
27
Issue:
8
Pages:
3090-3099
Publication date:
2013-08-05
DOI:
EISSN:
1530-6860
ISSN:
0892-6638
URN:
uuid:13c0c125-f3c4-4cda-9d5a-961a4e14abce
Source identifiers:
395914
Local pid:
pubs:395914

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