Article
Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice.
Human molecular genetics - 15 Feb 2009
Puckelwartz Megan J, Kessler Eric, Zhang Yuan, Hodzic Didier, Randles K Natalie, Morris Glenn, Earley Judy U, Hadhazy Michele, Holaska James M, Mewborn Stephanie K, Pytel Peter, McNally Elizabeth M
Abstract excerpt
Mutations in the gene encoding the inner nuclear membrane proteins lamins A and C produce cardiac and skeletal muscle dysfunction referred to as Emery Dreifuss muscular dystrophy. Lamins A and C participate in the LINC complex that, along with the nesprin and SUN proteins, LInk the Nucleoskeleton with the Cytoskeleton. Nesprins 1 and 2 are giant spectrin-repeat containing proteins that have large and small forms....
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