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The Timothy syndrome mutation of cardiac CaV1.2 (L-type) channels: multiple altered gating mechanisms and pharmacological restoration of inactivation.

Yarotskyy V, Gao G, Peterson BZ, Elmslie KS.

J Physiol. 2009 Feb 1;587(3):551-65. doi: 10.1113/jphysiol.2008.161737. Epub 2008 Dec 15.


Cav1.4alpha1 subunits can form slowly inactivating dihydropyridine-sensitive L-type Ca2+ channels lacking Ca2+-dependent inactivation.

Koschak A, Reimer D, Walter D, Hoda JC, Heinzle T, Grabner M, Striessnig J.

J Neurosci. 2003 Jul 9;23(14):6041-9.


Increased coupled gating of L-type Ca2+ channels during hypertension and Timothy syndrome.

Navedo MF, Cheng EP, Yuan C, Votaw S, Molkentin JD, Scott JD, Santana LF.

Circ Res. 2010 Mar 5;106(4):748-56. doi: 10.1161/CIRCRESAHA.109.213363. Epub 2010 Jan 28.


Molecular mechanisms, and selective pharmacological rescue, of Rem-inhibited CaV1.2 channels in heart.

Xu X, Marx SO, Colecraft HM.

Circ Res. 2010 Sep 3;107(5):620-30. doi: 10.1161/CIRCRESAHA.110.224717. Epub 2010 Jul 8.


The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels.

Barrett CF, Tsien RW.

Proc Natl Acad Sci U S A. 2008 Feb 12;105(6):2157-62. doi: 10.1073/pnas.0710501105. Epub 2008 Feb 4.


Impaired gating of an L-Type Ca(2+) channel carrying a mutation linked to malignant hyperthermia.

Bannister RA, Beam KG.

Biophys J. 2013 May 7;104(9):1917-22. doi: 10.1016/j.bpj.2013.03.035. Erratum in: Biophys J. 2015 May 5;108(9):2420.


Gating of the HypoPP-1 mutations: II. Effects of a calcium-channel agonist BayK 8644.

Kuzmenkin A, Hang C, Kuzmenkina E, Jurkat-Rott K.

Pflugers Arch. 2007 Jul;454(4):605-14. Epub 2007 Mar 1.


Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.

Wemhöner K, Friedrich C, Stallmeyer B, Coffey AJ, Grace A, Zumhagen S, Seebohm G, Ortiz-Bonnin B, Rinné S, Sachse FB, Schulze-Bahr E, Decher N.

J Mol Cell Cardiol. 2015 Mar;80:186-95. doi: 10.1016/j.yjmcc.2015.01.002. Epub 2015 Jan 26.


Two mechanistically distinct effects of dihydropyridine nifedipine on CaV1.2 L-type Ca²⁺ channels revealed by Timothy syndrome mutation.

Sheng X, Nakada T, Kobayashi M, Kashihara T, Shibazaki T, Horiuchi-Hirose M, Gomi S, Hirose M, Aoyama T, Yamada M.

Eur J Pharmacol. 2012 Jun 15;685(1-3):15-23. doi: 10.1016/j.ejphar.2012.04.029. Epub 2012 Apr 23.


Cellular mechanisms of ventricular arrhythmias in a mouse model of Timothy syndrome (long QT syndrome 8).

Drum BM, Dixon RE, Yuan C, Cheng EP, Santana LF.

J Mol Cell Cardiol. 2014 Jan;66:63-71. doi: 10.1016/j.yjmcc.2013.10.021. Epub 2013 Nov 9.


Properties of Na+ currents conducted by a skeletal muscle L-type Ca2+ channel pore mutant (SkEIIIK).

Bannister RA, Beam KG.

Channels (Austin). 2011 May-Jun;5(3):262-8. Epub 2011 May 1.


Competitive and cooperative effects of Bay K8644 on the L-type calcium channel current inhibition by calcium channel antagonists.

Zahradníková A, Minarovic I, Zahradník I.

J Pharmacol Exp Ther. 2007 Aug;322(2):638-45. Epub 2007 May 2.


Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.

Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, Sanguinetti MC, Keating MT.

Proc Natl Acad Sci U S A. 2005 Jun 7;102(23):8089-96; discussion 8086-8. Epub 2005 Apr 29.


Restoration of normal L-type Ca2+ channel function during Timothy syndrome by ablation of an anchoring protein.

Cheng EP, Yuan C, Navedo MF, Dixon RE, Nieves-Cintrón M, Scott JD, Santana LF.

Circ Res. 2011 Jul 22;109(3):255-61. doi: 10.1161/CIRCRESAHA.111.248252. Epub 2011 Jun 23.


Slow deactivation and U-shaped inactivation properties in cloned Cav1.2b channels in Chinese hamster ovary cells.

Aoyama M, Murakami M, Iwashita T, Ito Y, Yamaki K, Nakayama S.

Biophys J. 2003 Jan;84(1):709-24.

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