VLC

Gene discovery report:

Olson TM, Illenberger S, Kishimoto NY, Huttelmaier S, Keating MT, Jockusch BM.Metavinculin mutations alter actin interaction in dilated cardiomyopathy.Circulation. 2002;105:431-7.

Other VCL reports:

Karkkainen S, Miettinen R, Tuomainen P, Karkkainen P, Helio T, Reissell E, Kaartinen M, Toivonen L, Nieminen MS, Kuusisto J, Laakso M, Peuhkurinen K. A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy. J Mol Med. 2003 Dec;81(12):795-800.

 

Cypher

LBD3/Cypher/ZASP

Gene discovery report:

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. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol. 2003;42:2014-27.

Other reports:

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. A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. J Biol Chem. 2004 Feb 20;279(8):6746-52.

Other references:

Zhou, Q, Ruiz-Lozano P, Martone ME, Chen J. Cypher, a striated muscle-restricted PDZ and LIM domain-containing protein, binds to alpha-actinin-2 and protein kinase C. J Biol Chem. 1999;274:19807-13.

Huang, C, Zhou Q, Liang P, Hollander MS, Sheikh F, Li X, Greaser M, Shelton GD, Evans S, Chen J, Characterization and in vivo functional analysis of splice variants of cypher. J Biol Chem. 2003;278:7360-5.