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DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death.
Bertrand AT, Renou L, Papadopoulos A, Beuvin M, Lacène E, Massart C, Ottolenghi C, Decostre V, Maron S, Schlossarek S, Cattin ME, Carrier L, Malissen M, Arimura T, Bonne G. Bertrand AT, et al. Among authors: cattin me. Hum Mol Genet. 2012 Mar 1;21(5):1037-48. doi: 10.1093/hmg/ddr534. Epub 2011 Nov 16. Hum Mol Genet. 2012. PMID: 22090424
'State-of-the-heart' of cardiac laminopathies.
Cattin ME, Muchir A, Bonne G. Cattin ME, et al. Curr Opin Cardiol. 2013 May;28(3):297-304. doi: 10.1097/HCO.0b013e32835f0c79. Curr Opin Cardiol. 2013. PMID: 23455585 Review.
Heterozygous LmnadelK32 mice develop dilated cardiomyopathy through a combined pathomechanism of haploinsufficiency and peptide toxicity.
Cattin ME, Bertrand AT, Schlossarek S, Le Bihan MC, Skov Jensen S, Neuber C, Crocini C, Maron S, Lainé J, Mougenot N, Varnous S, Fromes Y, Hansen A, Eschenhagen T, Decostre V, Carrier L, Bonne G. Cattin ME, et al. Hum Mol Genet. 2013 Aug 1;22(15):3152-64. doi: 10.1093/hmg/ddt172. Epub 2013 Apr 10. Hum Mol Genet. 2013. PMID: 23575224 Free article.