Genomes and Genes
Gene Symbol: Ldb3
Description: LIM domain binding 3
Alias: AW742271, PDLIM6, ZASP, LIM domain-binding protein 3, PDZ-LIM domain protein, Z-band alternatively spliced PDZ-motif protein, cypher, ldb3, oracle protein, protein cypher, protein oracle
- Bang M. Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins. J Cell Physiol. 2017;232:38-52 pubmed publisher..Pros and cons of mouse models will be discussed and a future outlook will be given. J. Cell. Physiol. 232: 38-52, 2017. © 2016 Wiley Periodicals, Inc. ..
- Lin X, Miller J, Mankodi A, Kanadia R, Yuan Y, Moxley R, et al. Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Hum Mol Genet. 2006;15:2087-97 pubmed..Sequestration of MBNL1, and failure to maintain these splicing transitions, has a pivotal role in the pathogenesis of muscle disease in DM. ..
- Cheng H, Zheng M, Peter A, Kimura K, Li X, Ouyang K, et al. Selective deletion of long but not short Cypher isoforms leads to late-onset dilated cardiomyopathy. Hum Mol Genet. 2011;20:1751-62 pubmed publisherb>Cypher long (CypherL) and short (CypherS) isoforms are distinguished from each other by the presence and absence of three C-terminal LIM domains, respectively...
- Bennett P, Maggs A, Baines A, Pinder J. The transitional junction: a new functional subcellular domain at the intercalated disc. Mol Biol Cell. 2006;17:2091-100 pubmed..In particular, it provides a means for sarcomeres to be added to the ends of the cells during growth. This is of particular relevance to understanding myocyte elongation in dilated cardiomyopathy. ..
- Nguyen A, Xiao B, Neppl R, Kallin E, Li J, Chen T, et al. DOT1L regulates dystrophin expression and is critical for cardiac function. Genes Dev. 2011;25:263-74 pubmed publisher..In addition, our study may open new avenues for the diagnosis and treatment of human heart disease. ..
- Seto J, Lek M, Quinlan K, Houweling P, Zheng X, Garton F, et al. Deficiency of ?-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling. Hum Mol Genet. 2011;20:2914-27 pubmed publisher..In support of this, we demonstrated that the Z-disk proteins, ZASP, titin and vinculin preferentially bind to ?-actinin-2...
- Chamberlain C, Ranum L. Mouse model of muscleblind-like 1 overexpression: skeletal muscle effects and therapeutic promise. Hum Mol Genet. 2012;21:4645-54 pubmed publisher..In summary, MBNL1 overexpression may be a valuable strategy for treating the skeletal muscle features of DM...
- Johnson E, Zhang L, Adams M, Phillips A, Freitas M, Froehner S, et al. Proteomic analysis reveals new cardiac-specific dystrophin-associated proteins. PLoS ONE. 2012;7:e43515 pubmed publisher..In addition, our findings support the existence of cardiac-specific functions of dystrophin and may guide studies into early triggers of cardiac disease in Duchenne and Becker muscular dystrophies. ..
- Martinelli V, Kyle W, Kojic S, Vitulo N, Li Z, Belgrano A, et al. ZASP interacts with the mechanosensing protein Ankrd2 and p53 in the signalling network of striated muscle. PLoS ONE. 2014;9:e92259 pubmed publisher..The ablation of its murine homologue Cypher results in neonatal lethality...
- Lin X, Ruiz J, Bajraktari I, Ohman R, Banerjee S, Gribble K, et al. Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy. J Biol Chem. 2014;289:13615-26 pubmed publisher..Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP)/Cypher interacts with ?-actinin, myotilin, and other Z-disc proteins via the PDZ domain...
- Mastrototaro G, Liang X, Li X, Carullo P, Piroddi N, Tesi C, et al. Nebulette knockout mice have normal cardiac function, but show Z-line widening and up-regulation of cardiac stress markers. Cardiovasc Res. 2015;107:216-25 pubmed publisher..These results suggest that the nebulette disease causing mutations have dominant gain-of-function effects. ..
- Mu Y, Jing R, Peter A, Lange S, Lin L, Zhang J, et al. Cypher and Enigma homolog protein are essential for cardiac development and embryonic survival. J Am Heart Assoc. 2015;4: pubmed publisher..b>Cypher and its close homologue, Enigma homolog protein (ENH), are 2 Z-line proteins previously shown to be individually ..
- Edmondson R, Vondriska T, Biederman K, Zhang J, Jones R, Zheng Y, et al. Protein kinase C epsilon signaling complexes include metabolism- and transcription/translation-related proteins: complimentary separation techniques with LC/MS/MS. Mol Cell Proteomics. 2002;1:421-33 pubmed..Most importantly, we identified two new groups of proteins that were previously unrecognized as components of the PKC epsilon complex: metabolism-related proteins and transcription/translation-related proteins. ..
- 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...
- Scheffer D, Shen J, Corey D, Chen Z. Gene Expression by Mouse Inner Ear Hair Cells during Development. J Neurosci. 2015;35:6366-80 pubmed publisher..We found that many of the known hereditary deafness genes are much more highly expressed in hair cells than surrounding cells, suggesting that genes preferentially expressed in hair cells are good candidates for unknown deafness genes. ..