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Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.
Navarro CL, Cadiñanos J, De Sandre-Giovannoli A, Bernard R, Courrier S, Boccaccio I, Boyer A, Kleijer WJ, Wagner A, Giuliano F, Beemer FA, Freije JM, Cau P, Hennekam RC, López-Otín C, Badens C, Lévy N. Navarro CL, et al. Among authors: freije jm. Hum Mol Genet. 2005 Jun 1;14(11):1503-13. doi: 10.1093/hmg/ddi159. Epub 2005 Apr 20. Hum Mol Genet. 2005. PMID: 15843403
Nuclear envelope defects cause stem cell dysfunction in premature-aging mice.
Espada J, Varela I, Flores I, Ugalde AP, Cadiñanos J, Pendás AM, Stewart CL, Tryggvason K, Blasco MA, Freije JM, López-Otín C. Espada J, et al. Among authors: freije jm. J Cell Biol. 2008 Apr 7;181(1):27-35. doi: 10.1083/jcb.200801096. Epub 2008 Mar 31. J Cell Biol. 2008. PMID: 18378773 Free PMC article.
93 results