Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome
Tóm tắt
Từ khóa
Tài liệu tham khảo
Minor, 2010, Progress in the structural understanding of voltage-gated calcium channel (Cav) function and modulation, Channels (Austin), 4, 459, 10.4161/chan.4.6.12867
Ertel, 2000, Nomenclature of voltage-gated calcium channels, Neuron, 25, 533, 10.1016/S0896-6273(00)81057-0
Catterall, 2000, Structure and regulation of voltage-gated Ca2+ channels, Annu Rev Cell Dev Biol, 16, 521, 10.1146/annurev.cellbio.16.1.521
Mikami, 1989, Primary structure and functional expression of the cardiac dihydropyridine-sensitive calcium channel, Nature, 340, 230, 10.1038/340230a0
Schultz, 1993, Cloning, chromosomal localization, and functional expression of the alpha 1 subunit of the L-type voltage-dependent calcium channel from normal human heart, Proc Natl Acad Sci U S A, 90, 6228, 10.1073/pnas.90.13.6228
Splawski, 2004, Cav1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism, Cell, 119, 19, 10.1016/j.cell.2004.09.011
Boyett, 1994, Ultra-slow voltage-dependent inactivation of the calcium current in guinea-pig and ferret ventricular myocytes, Pflugers Arch, 428, 39, 10.1007/BF00374750
Mitarai, 2000, Two distinct inactivation processes related to phosphorylation in cardiac L-type Ca2+ channel currents, Am J Physiol Cell Physiol, 279, C603, 10.1152/ajpcell.2000.279.3.C603
Lacinova, 2005, Ca2+- and voltage-dependent inactivation of the expressed L-type Cav1.2 calcium channel, Arch Biochem Biophys, 437, 42, 10.1016/j.abb.2005.02.025
Peterson, 1999, Calmodulin is the Ca2+ sensor for Ca2+-dependent inactivation of L-type calcium channels, Neuron, 22, 549, 10.1016/S0896-6273(00)80709-6
Qin, 1999, Ca2+-induced inhibition of the cardiac Ca2+ channel depends on calmodulin, Proc Natl Acad Sci U S A, 96, 2435, 10.1073/pnas.96.5.2435
Zuhlke, 1999, Calmodulin supports both inactivation and facilitation of L-type calcium channels, Nature, 399, 159, 10.1038/20200
Ferreira, 1997, Ion-dependent inactivation of barium current through L-type calcium channels, J Gen Physiol, 109, 449, 10.1085/jgp.109.4.449
Splawski, 2005, Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations, Proc Natl Acad Sci U S A, 102, 8089, 10.1073/pnas.0502506102
Limberg, 2013, Non dominant-negative KCNJ2 gene mutations leading to Andersen–Tawil syndrome with an isolated cardiac phenotype, Basic Res Cardiol, 108, 353, 10.1007/s00395-013-0353-1
Streit, 2011, A specific two-pore domain potassium channel blocker defines the structure of the TASK-1 open pore, J Biol Chem, 286, 13977, 10.1074/jbc.M111.227884
White, 1990, Niflumic and flufenamic acids are potent reversible blockers of Ca2+-activated Cl− channels in Xenopus oocytes, Mol Pharmacol, 37, 720
Iyer, 2004, A computational model of the human left-ventricular epicardial myocyte, Biophys J, 87, 1507, 10.1529/biophysj.104.043299
Cavalie, 1983, Elementary currents through Ca2+ channels in guinea pig myocytes, Pflugers Arch, 398, 284, 10.1007/BF00657238
Press, 1992
Burashnikov, 2010, Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death, Heart Rhythm, 7, 1872, 10.1016/j.hrthm.2010.08.026
Lee, 1985, Inactivation of calcium channels in mammalian heart cells: joint dependence on membrane potential and intracellular calcium, J Physiol, 364, 395, 10.1113/jphysiol.1985.sp015752
Gillis, 2012, Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome, Am J Med Genet A, 158A, 182, 10.1002/ajmg.a.34355
Dixon, 2012, Ca2+ signaling amplification by oligomerization of L-type Cav1.2 channels, Proc Natl Acad Sci U S A, 109, 1749, 10.1073/pnas.1116731109
Erxleben, 2006, Cyclosporin and Timothy syndrome increase mode 2 gating of Cav1.2 calcium channels through aberrant phosphorylation of S6 helices, Proc Natl Acad Sci U S A, 103, 3932, 10.1073/pnas.0511322103
Barrett, 2008, The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of Cav1.2 L-type calcium channels, Proc Natl Acad Sci U S A, 105, 2157, 10.1073/pnas.0710501105
Etheridge, 2011, Somatic mosaicism contributes to phenotypic variation in Timothy syndrome, Am J Med Genet A, 155A, 2578, 10.1002/ajmg.a.34223
Dufendach, 2013, Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndrome, Pediatrics, 131, e1991, 10.1542/peds.2012-2941
Frohler, 2014, Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2), BMC Med Genet, 15, 48, 10.1186/1471-2350-15-48
Boczek, 2013, Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome, Circ Cardiovasc Genet, 6, 279, 10.1161/CIRCGENETICS.113.000138
Fukuyama, 2014, Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes
Simms, 2012, The Brugada syndrome mutation A39V does not affect surface expression of neuronal rat Cav1.2 channels, Mol Brain, 5, 9, 10.1186/1756-6606-5-9
Tang, 2004, Transcript scanning reveals novel and extensive splice variations in human L-type voltage-gated calcium channel, Cav1.2 alpha1 subunit, J Biol Chem, 279, 44335, 10.1074/jbc.M407023200
Boczek, 2015, Novel Timothy syndrome mutation leading to increase in CACNA1C window current, Heart Rhythm, 12, 211, 10.1016/j.hrthm.2014.09.051
Hofmann, 2014, L-type Cav1.2 calcium channels: from in vitro findings to in vivo function, Physiol Rev, 94, 303, 10.1152/physrev.00016.2013
Ramachandran, 2013, Calcium influx through L-type Cav1.2 Ca2+ channels regulates mandibular development, J Clin Invest, 123, 1638, 10.1172/JCI66903
Papanayotou, 2013, Calfacilitin is a calcium channel modulator essential for initiation of neural plate development, Nat Commun, 4, 1837, 10.1038/ncomms2864
