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Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice.
Domenighetti AA, Chu PH, Wu T, Sheikh F, Gokhin DS, Guo LT, Cui Z, Peter AK, Christodoulou DC, Parfenov MG, Gorham JM, Li DY, Banerjee I, Lai X, Witzmann FA, Seidman CE, Seidman JG, Gomes AV, Shelton GD, Lieber RL, Chen J. Domenighetti AA, et al. Hum Mol Genet. 2014 Jan 1;23(1):209-25. doi: 10.1093/hmg/ddt412. Epub 2013 Aug 23. Hum Mol Genet. 2014. PMID: 23975679 Free PMC article.
The nebulin SH3 domain is dispensable for normal skeletal muscle structure but is required for effective active load bearing in mouse.
Yamamoto DL, Vitiello C, Zhang J, Gokhin DS, Castaldi A, Coulis G, Piaser F, Filomena MC, Eggenhuizen PJ, Kunderfranco P, Camerini S, Takano K, Endo T, Crescenzi M, Luther PK, Lieber RL, Chen J, Bang ML. Yamamoto DL, et al. J Cell Sci. 2013 Dec 1;126(Pt 23):5477-89. doi: 10.1242/jcs.137026. Epub 2013 Sep 17. J Cell Sci. 2013. PMID: 24046450 Free PMC article.