Citations for
MYBPC1, an Emerging Myopathic Gene: What We Know and What We Need to Learn.
Geist J, Kontrogianni-Konstantopoulos A.
Front Physiol 7:410. doi: 10.3389/fphys.2016.00410. Review. 2016
Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.
Ekhilevitch N, Kurolap A, Oz-Levi D, Mory A, Hershkovitz T, Ast G, Mandel H, Baris HN.
Clin Genet 90(1):84-9. doi: 10.1111/cge.12707. 2016
Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.
Li X, Zhong B, Han W, Zhao N, Liu W, Sui Y, Wang Y, Lu Y, Wang H, Li J, Jiang M.
PLoS One 10(2):e0117158. doi: 10.1371/journal.pone.0117158. Erratum in: PLoS One. 2015;10(5):e0125310. 2015
Post-translational control of cardiac hemodynamics through myosin binding protein C.
Gupta MK, Robbins J.
Pflugers Arch 466(2):231-6. doi: 10.1007/s00424-013-1377-y. Review. 2014
Myosin binding protein-C slow: a multifaceted family of proteins with a complex expression profile in fast and slow twitch skeletal muscles.
Ackermann MA, Kontrogianni-Konstantopoulos A.
Front Physiol 4:391. doi: 10.3389/fphys.2013.00391. 2013
Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow.
Ackermann MA, Patel PD, Valenti J, Takagi Y, Homsher E, Sellers JR, Kontrogianni-Konstantopoulos A.
FASEB J 27(8):3217-28. doi: 10.1096/fj.13-228882. 2013
MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis.
Ha K, Buchan JG, Alvarado DM, McCall K, Vydyanath A, Luther PK, Goldsmith MI, Dobbs MB, Gurnett CA.
Hum Mol Genet 22(24):4967-77. doi: 10.1093/hmg/ddt344. 2013
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.
Markus B, Narkis G, Landau D, Birk RZ, Cohen I, Birk OS.
Hum Mutat 33(10):1435-8. doi: 10.1002/humu.22122. 2012
Slow skeletal muscle myosin-binding protein-C (MyBPC1) mediates recruitment of muscle-type creatine kinase (CK) to myosin.
Chen Z, Zhao TJ, Li J, Gao YS, Meng FG, Yan YB, Zhou HM.
Biochem J 436(2):437-45. 2011
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.
Gurnett CA, Desruisseau DM, McCall K, Choi R, Meyer ZI, Talerico M, Miller SE, Ju JS, Pestronk A, Connolly AM, Druley TE, Weihl CC, Dobbs MB.
Hum Mol Genet 19(7):1165-73. Epub 2010 Jan 2. 2010
Obscurin interacts with a novel isoform of MyBP-C slow at the periphery of the sarcomeric M-band and regulates thick filament assembly.
Ackermann MA, Hu LY, Bowman AL, Bloch RJ, Kontrogianni-Konstantopoulos A.
Mol Biol Cell 20(12):2963-78. Epub 2009 Apr 29. 2009
Understanding the organisation and role of myosin binding protein C in normal striated muscle by comparison with MyBP-C knockout cardiac muscle.
Luther PK, Bennett PM, Knupp C, Craig R, Padrón R, Harris SP, Patel J, Moss RL.
J Mol Biol 384(1):60-72. Epub 2008 Sep 16. 2008
Localization of the binding site of the C-terminal domain of cardiac myosin-binding protein-C on the myosin rod.
Flashman E, Watkins H, Redwood C.
Biochem J 401(1):97-102. 2007
Four and a half LIM protein 1 binds myosin-binding protein C and regulates myosin filament formation and sarcomere assembly.
McGrath MJ, Cottle DL, Nguyen MA, Dyson JM, Coghill ID, Robinson PA, Holdsworth M, Cowling BS, Hardeman EC, Mitchell CA, Brown S.
J Biol Chem 281(11):7666-83. Epub 2006 Jan 9. 2006
Expression of slow skeletal myosin binding C-protein in normal adult mammalian heart.
Dhoot GK, Perry SV.
J Muscle Res Cell Motil 26(2-3):143-8. Epub 2005 Jul 1. 2005
A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients.
Konno T, Shimizu M, Ino H, Matsuyama T, Yamaguchi M, Terai H, Hayashi K, Mabuchi T, Kiyama M, Sakata K, Hayashi T, Inoue M, Kaneda T, Mabuchi H.
J Am Coll Cardiol 41(5):781-6. 2003
The C-terminal IgI domains of myosin-binding proteins C and H (MyBP-C and MyBP-H) are both necessary and sufficient for the intracellular crosslinking of sarcomeric myosin in transfected non-muscle cells.
Welikson RE, Fischman DA.
J Cell Sci 115(Pt 17):3517-26. 2002
Complete sequence of human fast-type and slow-type muscle myosin-binding-protein C (MyBP-C). Differential expression, conserved domain structure and chromosome assignment.
Weber FE, et al.
Eur J Biochem 216 : 661-669. 1993
Mammalian skeletal muscle C-protein: purification from bovine muscle, binding to titin and the characterization of a full-length human cDNA.
Furst DO, Vinkemeier U, Weber K.
J Cell Sci 102 ( Pt 4):769-78. 1992