| 1 | LDB3, PDLIM5
|
| Cypher and Enigma homolog protein are essential for cardiac development and embryonic survival.
|
| Mu Y, Jing R, Peter AK, Lange S, Lin L, Zhang J, Ouyang K, Fang X, Veevers J, Zhou X, Evans SM, Cheng H, Chen J.
|
| J Am Heart Assoc 4(5). pii: e001950. doi: 10.1161/JAHA.115.001950. Erratum in: J Am Heart Assoc. 2015 Jul;4(7). pii: e001930. doi: 10.1161/JAHA.1 2015
|
| 2 | LDB3
|
| LDB3 splicing abnormalities are specific to skeletal muscles of patients with myotonic dystrophy type 1 and alter its PKC binding affinity.
|
| Yamashita Y, Matsuura T, Kurosaki T, Amakusa Y, Kinoshita M, Ibi T, Sahashi K, Ohno K.
|
| Neurobiol Dis 69C:200-205. doi: 10.1016/j.nbd.2014.05.026. [Epub ahead of print]
2014
|
| 3 | CMD1C, LDB3
|
| Combination of Genetic Screening and Molecular Dynamics as a Useful Tool for Identification of Disease-Related Mutations: ZASP PDZ Domain G54S Mutation Case.
|
| Fratev F, Mihaylova E, Pajeva I.
|
| J Chem Inf Model 54(5):1524-36. doi: 10.1021/ci5001136. Epub 2014 Apr 28.
2014
|
| 4 | CACNA1C, LDB3
|
| Cypher/ZASP is a novel A-kinase anchoring protein.
|
| Lin C, Guo X, Lange S, Liu J, Ouyang K, Yin X, Jiang L, Cai Y, Mu Y, Sheikh F, Ye S, Chen J, Ke Y, Cheng H.
|
| J Biol Chem 288(41):29403-13. doi: 10.1074/jbc.M113.470708. Epub 2013 Aug 31.
2013
|
| 5 | LDB3
|
| Z-band alternatively spliced PDZ motif protein (ZASP) is the major O-linked β-N-acetylglucosamine-substituted protein in human heart myofibrils.
|
| Leung MC, Hitchen PG, Ward DG, Messer AE, Marston SB.
|
| J Biol Chem 288(7):4891-8. doi: 10.1074/jbc.M112.410316. Epub 2012 Dec 27.
2013
|
| 6 | LDB3, MFMZ
|
| ZASPopathy with childhood-onset distal myopathy.
|
| Strach K, Reimann J, Thomas D, Naehle CP, Kress W, Kornblum C.
|
| J Neurol 259(7):1494-6. doi: 10.1007/s00415-012-6543-1. Epub 2012 May 23.
2012
|
| 7 | LDB3
|
| Selective deletion of long but not short Cypher isoforms leads to late-onset dilated cardiomyopathy.
|
| Cheng H, Zheng M, Peter AK, Kimura K, Li X, Ouyang K, Shen T, Cui L, Frank D, Dalton ND, Gu Y, Frey N, Peterson KL, Evans SM, Knowlton KU, Sheikh F, Chen J.
|
| Hum Mol Genet 20(9):1751-62. doi: 10.1093/hmg/ddr050. Epub 2011 Feb 8.
2011
|
| 8 | DM1, DM2, LDB3
|
| Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2.
|
| Vihola A, Bachinski LL, Sirito M, Olufemi SE, Hajibashi S, Baggerly KA, Raheem O, Haapasalo H, Suominen T, Holmlund-Hampf J, Paetau A, Cardani R, Meola G, Kalimo H, Edström L, Krahe R, Udd B.
|
| Acta Neuropathol 119(4):465-79. doi: 10.1007/s00401-010-0637-6. Epub 2010 Jan 12.
2010
|
| 9 | LDB3
|
| A ZASP missense mutation, S196L, leads to cytoskeletal and electrical abnormalities in a mouse model of cardiomyopathy.
|
| Li Z, Ai T, Samani K, Xi Y, Tzeng HP, Xie M, Wu S, Ge S, Taylor MD, Dong JW, Cheng J, Ackerman MJ, Kimura A, Sinagra G, Brunelli L, Faulkner G, Vatta M.
|
| Circ Arrhythm Electrophysiol 3(6):646-56. doi: 10.1161/CIRCEP.109.929240. Epub 2010 Sep 18.
2010
|
| 10 | CMD1C, LDB3
|
| Cardiac-specific ablation of Cypher leads to a severe form of dilated cardiomyopathy with premature death.
|
| Zheng M, Cheng H, Li X, Zhang J, Cui L, Ouyang K, Han L, Zhao T, Gu Y, Dalton ND, Bang ML, Peterson KL, Chen J.
|
| Hum Mol Genet 18(4):701-13. Epub 2008 Nov 21.
2009
|
| 11 | LDB3, PGM1
|
| Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy.
|
| Arimura T, Inagaki N, Hayashi T, Shichi D, Sato A, Hinohara K, Vatta M, Towbin JA, Chikamori T, Yamashina A, Kimura A.
|
| Cardiovasc Res 83(1):80-8. doi: 10.1093/cvr/cvp119. Epub 2009 Apr 17.
2009
|
| 12 | LDB3, TAZ
|
| Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes.
|
| Marziliano N, Mannarino S, Nespoli L, Diegoli M, Pasotti M, Malattia C, Grasso M, Pilotto A, Porcu E, Raisaro A, Raineri C, Dore R, Maggio PP, Brega A, Arbustini E.
|
| Am J Med Genet A 143A(9):907-15.
2007
|
| 13 | LDB3
|
| Zasp is required for the assembly of functional integrin adhesion sites.
|
| Jani K, Schöck F.
|
| J Cell Biol 179(7):1583-97.PMID: 18166658 2007
|
| 14 | LDB3
|
| Zasp/Cypher internal ZM-motif containing fragments are sufficient to co-localize with alpha-actinin--analysis of patient mutations.
|
| Klaavuniemi T, Ylänne J.
|
| Exp Cell Res 312(8):1299-311. Epub 2006 Feb 14.
2006
|
| 15 | MFMZ, LDB3
|
| Mutations in ZASP define a novel form of muscular dystrophy in humans.
|
| Selcen D, Engel AG.
|
| Ann Neurol 57(2):269-76. 2005
|
| 16 | CMD1C, LDB3
|
| A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C.
|
| Arimura T, Hayashi T, Terada H, Lee SY, Zhou Q, Takahashi M, Ueda K, Nouchi T, Hohda S, Shibutani M, Hirose M, Chen J, Park JE, Yasunami M, Hayashi H, Kimura A.
|
| J Biol Chem 279(8):6746-52. Epub 2003 Dec 3. 2004
|
| 17 | LDB3
|
| ZASP: a new Z-band alternatively spliced PDZ-motif protein.
|
| Faulkner G, Pallavicini A, Formentin E, Comelli A, Ievolella C, Trevisan S, Bortoletto G, Scannapieco P, Salamon M, Mouly V, Valle G, Lanfranchi G.
|
| J Cell Biol 146(2):465-75. 1999
|
| 18 | AATK, ACIN1, ACOT11, ACSBG1, ADAMTS4, ADGRV1, AKAP11, ANKLE2, ARHGAP26, ARHGEF2, ASTN2, ATP2C2, ATP9A, BICD2, BZRAP1, C12orf51, CAND2, CEP135, CLASP1, CLASP2, CLUAP1, CLUH, CNOT3, COBL, CPNE3, CRTC1, CRY2, CSTF2T, CUL3, CUL4B, DAAM1, DAGLA, DEPDC5, DNAJC13, DOCK10, DZIP3, FBXW11, FKBP15, G3BP2, HEPH, HIP1R, HIPK1, ICOSLG, KIAA0649, KIAA0652, KIF13B, KIF1C, KIF21A, L3MBTL1, LDB3, MAGI2, MAP4K4, MFAP3L, MGEA5, MRC2, MTMR4, N4BP1, NPHP4, OBSL1, PAN2, PHACTR2, PHF2, PHLDB1, PLXND1, PPFIA3, PTCD1, RAB11FIP3, RBM19, RICH2, RNF40, RNF8, ROCK2, RRP12, SAPS2, SETX, SIN3B, SLC24A1, SMCHD1, SNAP91, SOCS5, SS18L1, SWAP70, TBC1D9B, TELO2, TNRC15, TSC22D2, UBE4B, UHRF1BP1L, ULK2, ZBED4, ZC3H11A, ZNF623
|
| Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
|
| Ishikawa K, Nagase T, Suyama M, Miyajima N, Tanaka A, Kotani H, Nomura N,Ohara O.
|
| DNA Res 5(3):169-76. 1998
|