Genomes and Genes
Gene Symbol: Ldb3
Description: LIM domain binding 3
Alias: RGD1564875, ZASP, LIM domain-binding protein 3, Cypher
- Arimura T, Hayashi T, Terada H, Lee S, Zhou Q, Takahashi M, et al. A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. J Biol Chem. 2004;279:6746-52 pubmed..b>Cypher/ZASP appears to be an ideal candidate for the cardiomyopathy causative gene, because Cypher/ZASP encodes a Z-disc ..
- Li Z, Ai T, Samani K, Xi Y, Tzeng H, Xie M, et al. A ZASP missense mutation, S196L, leads to cytoskeletal and electrical abnormalities in a mouse model of cardiomyopathy. Circ Arrhythm Electrophysiol. 2010;3:646-56 pubmed publisher..We previously identified a S196L mutation in exon 4 of LBD3-encoded ZASP in a family with DCM and sudden cardiac death...
- Poole A, Pula G, Hers I, Crosby D, Jones M. PKC-interacting proteins: from function to pharmacology. Trends Pharmacol Sci. 2004;25:528-35 pubmed..In this article, we review recent work on C-KIPs and the implications for pharmacological and therapeutic development. ..
- Griggs R, Vihola A, Hackman P, Talvinen K, Haravuori H, Faulkner G, et al. Zaspopathy in a large classic late-onset distal myopathy family. Brain. 2007;130:1477-84 pubmed..have a more distal than proximal muscle phenotype and a proportion of these may have mutations in myotilin, ZASP or filamin C, besides previously known desmin and alphaB-crystallin...
- Yamashita Y, Matsuura T, Kurosaki T, Amakusa Y, Kinoshita M, Ibi T, et al. LDB3 splicing abnormalities are specific to skeletal muscles of patients with myotonic dystrophy type 1 and alter its PKC binding affinity. Neurobiol Dis. 2014;69:200-5 pubmed publisher..Here, we demonstrate the occurrence of aberrant splicing of LIM domain binding 3 (LDB3) exon 11 in DM1 skeletal muscle...