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PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.
Grall A, Guaguère E, Planchais S, Grond S, Bourrat E, Hausser I, Hitte C, Le Gallo M, Derbois C, Kim GJ, Lagoutte L, Degorce-Rubiales F, Radner FP, Thomas A, Küry S, Bensignor E, Fontaine J, Pin D, Zimmermann R, Zechner R, Lathrop M, Galibert F, André C, Fischer J. Grall A, et al. Among authors: zechner r. Nat Genet. 2012 Jan 15;44(2):140-7. doi: 10.1038/ng.1056. Nat Genet. 2012. PMID: 22246504
Growth retardation, impaired triacylglycerol catabolism, hepatic steatosis, and lethal skin barrier defect in mice lacking comparative gene identification-58 (CGI-58).
Radner FP, Streith IE, Schoiswohl G, Schweiger M, Kumari M, Eichmann TO, Rechberger G, Koefeler HC, Eder S, Schauer S, Theussl HC, Preiss-Landl K, Lass A, Zimmermann R, Hoefler G, Zechner R, Haemmerle G. Radner FP, et al. Among authors: zechner r. J Biol Chem. 2010 Mar 5;285(10):7300-11. doi: 10.1074/jbc.M109.081877. Epub 2009 Dec 18. J Biol Chem. 2010. PMID: 20023287 Free PMC article.
ATGL-mediated fat catabolism regulates cardiac mitochondrial function via PPAR-α and PGC-1.
Haemmerle G, Moustafa T, Woelkart G, Büttner S, Schmidt A, van de Weijer T, Hesselink M, Jaeger D, Kienesberger PC, Zierler K, Schreiber R, Eichmann T, Kolb D, Kotzbeck P, Schweiger M, Kumari M, Eder S, Schoiswohl G, Wongsiriroj N, Pollak NM, Radner FP, Preiss-Landl K, Kolbe T, Rülicke T, Pieske B, Trauner M, Lass A, Zimmermann R, Hoefler G, Cinti S, Kershaw EE, Schrauwen P, Madeo F, Mayer B, Zechner R. Haemmerle G, et al. Among authors: zechner r. Nat Med. 2011 Aug 21;17(9):1076-85. doi: 10.1038/nm.2439. Nat Med. 2011. PMID: 21857651 Free PMC article.
G0/G1 switch gene-2 regulates human adipocyte lipolysis by affecting activity and localization of adipose triglyceride lipase.
Schweiger M, Paar M, Eder C, Brandis J, Moser E, Gorkiewicz G, Grond S, Radner FP, Cerk I, Cornaciu I, Oberer M, Kersten S, Zechner R, Zimmermann R, Lass A. Schweiger M, et al. Among authors: zechner r. J Lipid Res. 2012 Nov;53(11):2307-17. doi: 10.1194/jlr.M027409. Epub 2012 Aug 13. J Lipid Res. 2012. PMID: 22891293 Free PMC article.
249 results