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Page 1
Loss of function of hNav1.5 by a ZASP1 mutation associated with intraventricular conduction disturbances in left ventricular noncompaction.
Xi Y, Ai T, De Lange E, Li Z, Wu G, Brunelli L, Kyle WB, Turker I, Cheng J, Ackerman MJ, Kimura A, Weiss JN, Qu Z, Kim JJ, Faulkner G, Vatta M. Xi Y, et al. Among authors: faulkner g. Circ Arrhythm Electrophysiol. 2012 Oct;5(5):1017-26. doi: 10.1161/CIRCEP.111.969220. Epub 2012 Aug 28. Circ Arrhythm Electrophysiol. 2012. PMID: 22929165 Free PMC article.
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. Li Z, et al. Among authors: faulkner g. Circ Arrhythm Electrophysiol. 2010 Dec;3(6):646-56. doi: 10.1161/CIRCEP.109.929240. Epub 2010 Sep 18. Circ Arrhythm Electrophysiol. 2010. PMID: 20852297
ZASP interacts with the mechanosensing protein Ankrd2 and p53 in the signalling network of striated muscle.
Martinelli VC, Kyle WB, Kojic S, Vitulo N, Li Z, Belgrano A, Maiuri P, Banks L, Vatta M, Valle G, Faulkner G. Martinelli VC, et al. Among authors: faulkner g. PLoS One. 2014 Mar 19;9(3):e92259. doi: 10.1371/journal.pone.0092259. eCollection 2014. PLoS One. 2014. Retraction in: PLoS One. 2024 Jan 31;19(1):e0298249. doi: 10.1371/journal.pone.0298249 PMID: 24647531 Free PMC article. Retracted.
Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction.
Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, Perles Z, Sinagra G, Lin JH, Vu TM, Zhou Q, Bowles KR, Di Lenarda A, Schimmenti L, Fox M, Chrisco MA, Murphy RT, McKenna W, Elliott P, Bowles NE, Chen J, Valle G, Towbin JA. Vatta M, et al. Among authors: faulkner g. J Am Coll Cardiol. 2003 Dec 3;42(11):2014-27. doi: 10.1016/j.jacc.2003.10.021. J Am Coll Cardiol. 2003. PMID: 14662268 Free article.
A mutation in telethonin alters Nav1.5 function.
Mazzone A, Strege PR, Tester DJ, Bernard CE, Faulkner G, De Giorgio R, Makielski JC, Stanghellini V, Gibbons SJ, Ackerman MJ, Farrugia G. Mazzone A, et al. Among authors: faulkner g. J Biol Chem. 2008 Jun 13;283(24):16537-44. doi: 10.1074/jbc.M801744200. Epub 2008 Apr 11. J Biol Chem. 2008. PMID: 18408010 Free PMC article.
Telethonin deficiency is associated with maladaptation to biomechanical stress in the mammalian heart.
Knöll R, Linke WA, Zou P, Miocic S, Kostin S, Buyandelger B, Ku CH, Neef S, Bug M, Schäfer K, Knöll G, Felkin LE, Wessels J, Toischer K, Hagn F, Kessler H, Didié M, Quentin T, Maier LS, Teucher N, Unsöld B, Schmidt A, Birks EJ, Gunkel S, Lang P, Granzier H, Zimmermann WH, Field LJ, Faulkner G, Dobbelstein M, Barton PJ, Sattler M, Wilmanns M, Chien KR. Knöll R, et al. Among authors: faulkner g. Circ Res. 2011 Sep 16;109(7):758-69. doi: 10.1161/CIRCRESAHA.111.245787. Epub 2011 Jul 28. Circ Res. 2011. PMID: 21799151 Free PMC article.
688 results