[1] |
Wu YL, Ding YP, Tanaka Y, et al. Risk factors contributing to type 2 diabetes and recent advances in the treatment and prevention. Int J Med Sci, 2014; 11, 1185−200. doi: 10.7150/ijms.10001 |
[2] |
Grahn THM, Zhang Y, Lee MJ, et al. FSP27 and PLIN1 interaction promotes the formation of large lipid droplets in human adipocytes. Biochem Biophys Res Commun, 2013; 432, 296−301. doi: 10.1016/j.bbrc.2013.01.113 |
[3] |
Jéru I, Vantyghem MC, Bismuth E, et al. Diagnostic challenge in PLIN1-associated familial partial lipodystrophy. J Clin Endocrinol Metab, 2019; 104, 6025−32. doi: 10.1210/jc.2019-00849 |
[4] |
Kozusko K, Tsang VHM, Bottomley W, et al. Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy. Diabetes, 2015; 64, 299−310. doi: 10.2337/db14-0104 |
[5] |
Arya VB, Flanagan SE, Schober E, et al. Activating AKT2 mutation: hypoinsulinemic hypoketotic hypoglycemia. J Clin Endocrinol Metab, 2014; 99, 391−4. doi: 10.1210/jc.2013-3228 |
[6] |
Semple RK, Sleigh A, Murgatroyd PR, et al. Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis. J Clin Invest, 2009; 119, 315−22. |
[7] |
Hussain K, Challis B, Rocha N, et al. An activating mutation of AKT2 and human hypoglycemia. Science, 2011; 334, 474. doi: 10.1126/science.1210878 |
[8] |
Li SJ, Khan R, Raza SHA, et al. Function and characterization of the promoter region of perilipin 1 (PLIN1): roles of E2F1, PLAG1, C/EBPβ, and SMAD3 in bovine adipocytes. Genomics, 2020; 112, 2400−9. doi: 10.1016/j.ygeno.2020.01.012 |
[9] |
Gandotra S, Le Dour C, Bottomley W, et al. Perilipin deficiency and autosomal dominant partial lipodystrophy. N Engl J Med, 2011; 364, 740−8. doi: 10.1056/NEJMoa1007487 |
[10] |
Chen RX, Zhang L, Ye W, et al. The renal manifestations of type 4 familial partial lipodystrophy: a case report and review of literature. BMC Nephrol, 2018; 19, 111. doi: 10.1186/s12882-018-0913-6 |