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Identification of Rare Loss-of-Function Genetic Variation Regulating Body Fat Distribution.
Koprulu M, Zhao Y, Wheeler E, Dong L, Rocha N, Li C, Griffin JD, Patel S, Van de Streek M, Glastonbury CA, Stewart ID, Day FR, Luan J, Bowker N, Wittemans LBL, Kerrison ND, Cai L, Lucarelli DME, Barroso I, McCarthy MI, Scott RA, Saudek V, Small KS, Wareham NJ, Semple RK, Perry JRB, O'Rahilly S, Lotta LA, Langenberg C, Savage DB. Koprulu M, et al. Among authors: saudek v. J Clin Endocrinol Metab. 2022 Mar 24;107(4):1065-1077. doi: 10.1210/clinem/dgab877. J Clin Endocrinol Metab. 2022. PMID: 34875679 Free PMC article.
Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease.
Payne F, Lim K, Girousse A, Brown RJ, Kory N, Robbins A, Xue Y, Sleigh A, Cochran E, Adams C, Dev Borman A, Russel-Jones D, Gorden P, Semple RK, Saudek V, O'Rahilly S, Walther TC, Barroso I, Savage DB. Payne F, et al. Among authors: saudek v. Proc Natl Acad Sci U S A. 2014 Jun 17;111(24):8901-6. doi: 10.1073/pnas.1408523111. Epub 2014 Jun 2. Proc Natl Acad Sci U S A. 2014. PMID: 24889630 Free PMC article.
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.
Payne F, Colnaghi R, Rocha N, Seth A, Harris J, Carpenter G, Bottomley WE, Wheeler E, Wong S, Saudek V, Savage D, O'Rahilly S, Carel JC, Barroso I, O'Driscoll M, Semple R. Payne F, et al. Among authors: saudek v. J Clin Invest. 2014 Sep;124(9):4028-38. doi: 10.1172/JCI73264. Epub 2014 Aug 8. J Clin Invest. 2014. PMID: 25105364 Free PMC article.
Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy.
Kozusko K, Tsang V, Bottomley W, Cho YH, Gandotra S, Mimmack ML, Lim K, Isaac I, Patel S, Saudek V, O'Rahilly S, Srinivasan S, Greenfield JR, Barroso I, Campbell LV, Savage DB. Kozusko K, et al. Among authors: saudek v. Diabetes. 2015 Jan;64(1):299-310. doi: 10.2337/db14-0104. Epub 2014 Aug 11. Diabetes. 2015. PMID: 25114292 Free PMC article.
FTO is necessary for the induction of leptin resistance by high-fat feeding.
Tung YC, Gulati P, Liu CH, Rimmington D, Dennis R, Ma M, Saudek V, O'Rahilly S, Coll AP, Yeo GS. Tung YC, et al. Among authors: saudek v. Mol Metab. 2015 Feb 7;4(4):287-98. doi: 10.1016/j.molmet.2015.01.011. eCollection 2015 Apr. Mol Metab. 2015. PMID: 25830092 Free PMC article.
Conserved Amphipathic Helices Mediate Lipid Droplet Targeting of Perilipins 1-3.
Rowe ER, Mimmack ML, Barbosa AD, Haider A, Isaac I, Ouberai MM, Thiam AR, Patel S, Saudek V, Siniossoglou S, Savage DB. Rowe ER, et al. Among authors: saudek v. J Biol Chem. 2016 Mar 25;291(13):6664-78. doi: 10.1074/jbc.M115.691048. Epub 2016 Jan 7. J Biol Chem. 2016. PMID: 26742848 Free PMC article.
80 results