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Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy.
Diabetes. 2015 Jan;64(1):299-310. doi: 10.2337/db14-0104. Epub 2014 Aug 11.
Diabetes. 2015.
PMID: 25114292
Free PMC article.
Human congenital perilipin deficiency and insulin resistance.
Kozusko K, Patel S, Savage DB.
Kozusko K, et al.
Endocr Dev. 2013;24:150-5. doi: 10.1159/000342511. Epub 2013 Feb 1.
Endocr Dev. 2013.
PMID: 23392103
Review.
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Perilipins 2 and 3 lack a carboxy-terminal domain present in perilipin 1 involved in sequestering ABHD5 and suppressing basal lipolysis.
Patel S, Yang W, Kozusko K, Saudek V, Savage DB.
Patel S, et al. Among authors: kozusko k.
Proc Natl Acad Sci U S A. 2014 Jun 24;111(25):9163-8. doi: 10.1073/pnas.1318791111. Epub 2014 Jun 9.
Proc Natl Acad Sci U S A. 2014.
PMID: 24927580
Free PMC article.
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