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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: savage db. 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: savage db. 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: savage db. 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.
Combined genetic deletion of GDF15 and FGF21 has modest effects on body weight, hepatic steatosis and insulin resistance in high fat fed mice.
Patel S, Haider A, Alvarez-Guaita A, Bidault G, El-Sayed Moustafa JS, Guiu-Jurado E, Tadross JA, Warner J, Harrison J, Virtue S, Scurria F, Zvetkova I, Blüher M, Small KS, O'Rahilly S, Savage DB. Patel S, et al. Among authors: savage db. Mol Metab. 2022 Nov;65:101589. doi: 10.1016/j.molmet.2022.101589. Epub 2022 Sep 2. Mol Metab. 2022. PMID: 36064109 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: savage db. Elife. 2023 Feb 1;12:e82283. doi: 10.7554/eLife.82283. Elife. 2023. PMID: 36722855 Free PMC article.
146 results