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ERK1/2 directly acts on CTGF/CCN2 expression to mediate myocardial fibrosis in cardiomyopathy caused by mutations in the lamin A/C gene.
Chatzifrangkeskou M, Le Dour C, Wu W, Morrow JP, Joseph LC, Beuvin M, Sera F, Homma S, Vignier N, Mougenot N, Bonne G, Lipson KE, Worman HJ, Muchir A. Chatzifrangkeskou M, et al. Among authors: le dour c. Hum Mol Genet. 2016 Jun 1;25(11):2220-2233. doi: 10.1093/hmg/ddw090. Epub 2016 Apr 30. Hum Mol Genet. 2016. PMID: 27131347 Free PMC article.
The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress.
Verstraeten VL, Caputo S, van Steensel MA, Duband-Goulet I, Zinn-Justin S, Kamps M, Kuijpers HJ, Ostlund C, Worman HJ, Briedé JJ, Le Dour C, Marcelis CL, van Geel M, Steijlen PM, van den Wijngaard A, Ramaekers FC, Broers JL. Verstraeten VL, et al. Among authors: le dour c. J Cell Mol Med. 2009 May;13(5):959-71. doi: 10.1111/j.1582-4934.2009.00690.x. Epub 2009 Feb 11. J Cell Mol Med. 2009. PMID: 19220582 Free PMC article.
A homozygous mutation of prelamin-A preventing its farnesylation and maturation leads to a severe lipodystrophic phenotype: new insights into the pathogenicity of nonfarnesylated prelamin-A.
Le Dour C, Schneebeli S, Bakiri F, Darcel F, Jacquemont ML, Maubert MA, Auclair M, Jeziorowska D, Reznik Y, Béréziat V, Capeau J, Lascols O, Vigouroux C. Le Dour C, et al. J Clin Endocrinol Metab. 2011 May;96(5):E856-62. doi: 10.1210/jc.2010-2234. Epub 2011 Feb 23. J Clin Endocrinol Metab. 2011. PMID: 21346069
Lipodystrophic syndromes due to LMNA mutations: recent developments on biomolecular aspects, pathophysiological hypotheses and therapeutic perspectives.
Vigouroux C, Guénantin AC, Vatier C, Capel E, Le Dour C, Afonso P, Bidault G, Béréziat V, Lascols O, Capeau J, Briand N, Jéru I. Vigouroux C, et al. Among authors: le dour c. Nucleus. 2018 Jan 1;9(1):235-248. doi: 10.1080/19491034.2018.1456217. Nucleus. 2018. PMID: 29578370 Free PMC article. Review.
14 results