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Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription.
Capanni C, Cenni V, Mattioli E, Sabatelli P, Ognibene A, Columbaro M, Parnaik VK, Wehnert M, Maraldi NM, Squarzoni S, Lattanzi G. Capanni C, et al. Among authors: mattioli e. Exp Cell Res. 2003 Nov 15;291(1):122-34. doi: 10.1016/s0014-4827(03)00395-1. Exp Cell Res. 2003. PMID: 14597414
Altered pre-lamin A processing is a common mechanism leading to lipodystrophy.
Capanni C, Mattioli E, Columbaro M, Lucarelli E, Parnaik VK, Novelli G, Wehnert M, Cenni V, Maraldi NM, Squarzoni S, Lattanzi G. Capanni C, et al. Among authors: mattioli e. Hum Mol Genet. 2005 Jun 1;14(11):1489-502. doi: 10.1093/hmg/ddi158. Epub 2005 Apr 20. Hum Mol Genet. 2005. PMID: 15843404
102 results