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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: lim k. 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.
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: lim k. Diabetes. 2015 Jan;64(1):299-310. doi: 10.2337/db14-0104. Epub 2014 Aug 11. Diabetes. 2015. PMID: 25114292 Free PMC article.
PCYT1A Regulates Phosphatidylcholine Homeostasis from the Inner Nuclear Membrane in Response to Membrane Stored Curvature Elastic Stress.
Haider A, Wei YC, Lim K, Barbosa AD, Liu CH, Weber U, Mlodzik M, Oras K, Collier S, Hussain MM, Dong L, Patel S, Alvarez-Guaita A, Saudek V, Jenkins BJ, Koulman A, Dymond MK, Hardie RC, Siniossoglou S, Savage DB. Haider A, et al. Among authors: lim k. Dev Cell. 2018 May 21;45(4):481-495.e8. doi: 10.1016/j.devcel.2018.04.012. Epub 2018 May 10. Dev Cell. 2018. PMID: 29754800 Free PMC article.
A mouse model of human mitofusin-2-related lipodystrophy exhibits adipose-specific mitochondrial stress and reduced leptin secretion.
Mann JP, Duan X, Patel S, Tábara LC, Scurria F, Alvarez-Guaita A, Haider A, Luijten I, Page M, Protasoni M, Lim K, Virtue S, O'Rahilly S, Armstrong M, Prudent J, Semple RK, Savage DB. Mann JP, et al. Among authors: lim k. Elife. 2023 Feb 1;12:e82283. doi: 10.7554/eLife.82283. Elife. 2023. PMID: 36722855 Free PMC article.
The architecture of Cidec-mediated interfaces between lipid droplets.
Ganeva I, Lim K, Boulanger J, Hoffmann PC, Muriel O, Borgeaud AC, Hagen WJH, Savage DB, Kukulski W. Ganeva I, et al. Among authors: lim k. Cell Rep. 2023 Feb 28;42(2):112107. doi: 10.1016/j.celrep.2023.112107. Epub 2023 Feb 16. Cell Rep. 2023. PMID: 36800289 Free PMC article.
6,536 results