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Page 1
CACNA1C-Related Channelopathies.
Herold KG, Hussey JW, Dick IE. Herold KG, et al. Handb Exp Pharmacol. 2023;279:159-181. doi: 10.1007/164_2022_624. Handb Exp Pharmacol. 2023. PMID: 36598608 Free PMC article. Review.
The CACNA1C gene encodes the pore-forming subunit of the Ca(V)1.2 L-type Ca(2+) channel, a critical component of membrane physiology in multiple tissues, including the heart, brain, and immune system. ...The first mutations identified within CACNA1C were show …
The CACNA1C gene encodes the pore-forming subunit of the Ca(V)1.2 L-type Ca(2+) channel, a critical component of membra …
Timothy syndrome iPSC modeling.
Bekdash R, Klein AD, Yazawa M. Bekdash R, et al. Mol Cell Neurosci. 2020 Sep;107:103529. doi: 10.1016/j.mcn.2020.103529. Epub 2020 Jul 3. Mol Cell Neurosci. 2020. PMID: 32629111 Review.
Particular gain-of-function mutations in CACNA1C encoding Ca(V)1.2 have been associated with Timothy Syndrome, a devastating disease with a multi-organ phenotype. Efforts to understand the underlying pathophysiology and find therapeutic strategy have been spu …
Particular gain-of-function mutations in CACNA1C encoding Ca(V)1.2 have been associated with Timothy Syndrome, a devast …
Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics.
Jiang C, Zhang Y. Jiang C, et al. Expert Rev Mol Med. 2023 May 3;25:e17. doi: 10.1017/erm.2023.11. Expert Rev Mol Med. 2023. PMID: 37132248 Free PMC article. Review.
Timothy syndrome (TS), characterised by multiple system malfunction especially the prolonged corrected QT interval and synchronised appearance of hand/foot syndactyly, is an extremely rare disease affecting early life with devastating arrhythmia. In this work, first …
Timothy syndrome (TS), characterised by multiple system malfunction especially the prolonged corrected QT interval and synchro …
Cav1.2 channelopathies causing autism: new hallmarks on Timothy syndrome.
Marcantoni A, Calorio C, Hidisoglu E, Chiantia G, Carbone E. Marcantoni A, et al. Pflugers Arch. 2020 Jul;472(7):775-789. doi: 10.1007/s00424-020-02430-0. Epub 2020 Jul 3. Pflugers Arch. 2020. PMID: 32621084 Free article. Review.
Cav1.2 L-type calcium channels play key roles in long-term synaptic plasticity, sensory transduction, muscle contraction, and hormone release. De novo mutations in the gene encoding Cav1.2 (CACNA1C) causes two forms of Timothy syndrome (TS1, TS2 …
Cav1.2 L-type calcium channels play key roles in long-term synaptic plasticity, sensory transduction, muscle contraction, and …
Voltage-Gated Calcium Channels in Nonexcitable Tissues.
Pitt GS, Matsui M, Cao C. Pitt GS, et al. Annu Rev Physiol. 2021 Feb 10;83:183-203. doi: 10.1146/annurev-physiol-031620-091043. Epub 2020 Oct 26. Annu Rev Physiol. 2021. PMID: 33106102 Free PMC article. Review.
The identification of a gain-of-function mutation in CACNA1C as the cause of Timothy syndrome, a rare disorder characterized by cardiac arrhythmias and syndactyly, highlighted roles for the L-type voltage-gated Ca(2+) channel Ca(V)1.2 in nonexci …
The identification of a gain-of-function mutation in CACNA1C as the cause of Timothy syndrome, a rare disorder characterized b …
L-type Ca2+ channel function during Timothy syndrome.
Dixon RE, Cheng EP, Mercado JL, Santana LF. Dixon RE, et al. Trends Cardiovasc Med. 2012 Apr;22(3):72-6. doi: 10.1016/j.tcm.2012.06.015. Trends Cardiovasc Med. 2012. PMID: 22999068 Free PMC article. Review.
Voltage-gated, dihydropyridine-sensitive L-type Ca(2+) channels are multimeric proteins composed of a pore-forming transmembrane alpha(1) subunit (Ca(v)1.2) and accessory beta, alpha(2)delta, and gamma subunits. ...Two de novo point mutations of Ca(v)1 …
Voltage-gated, dihydropyridine-sensitive L-type Ca(2+) channels are multimeric proteins composed of a pore-forming transmembra …
Calcium Channel Mutations in Cardiac Arrhythmia Syndromes.
Betzenhauser MJ, Pitt GS, Antzelevitch C. Betzenhauser MJ, et al. Curr Mol Pharmacol. 2015;8(2):133-42. doi: 10.2174/1874467208666150518114857. Curr Mol Pharmacol. 2015. PMID: 25981977 Free PMC article. Review.
Given these critical physiological roles, subtle disturbances in L-type channel function can lead to fatal cardiac arrhythmias. Indeed, numerous human arrhythmia syndromes have been linked to mutations in the L-type channel leading to gain-of-function or loss-of-fun …
Given these critical physiological roles, subtle disturbances in L-type channel function can lead to fatal cardiac arrhythmias. Indee …
CaV1.2 channelopathies: from arrhythmias to autism, bipolar disorder, and immunodeficiency.
Liao P, Soong TW. Liao P, et al. Pflugers Arch. 2010 Jul;460(2):353-9. doi: 10.1007/s00424-009-0753-0. Epub 2009 Nov 15. Pflugers Arch. 2010. PMID: 19916019 Review.
Mutations of human CaV1.2 channel gene were identified only recently. The gain-of-function mutations were found at two mutually exclusive exons in patients with Timothy syndrome (TS). ...Here, we will discuss how alternative splicing modulates CaV1.2 c …
Mutations of human CaV1.2 channel gene were identified only recently. The gain-of-function mutations were found at two mutually exclu …
Timothy syndrome 1 genotype without syndactyly and major extracardiac manifestations.
Sepp R, Hategan L, Bácsi A, Cseklye J, Környei L, Borbás J, Széll M, Forster T, Nagy I, Hegedűs Z. Sepp R, et al. Am J Med Genet A. 2017 Mar;173(3):784-789. doi: 10.1002/ajmg.a.38084. Am J Med Genet A. 2017. PMID: 28211989 Free article. Review.
Timothy syndrome 1 (TS1) is a rare genetic disorder characterized by multisystem abnormalities including QT prolongation, congenital heart defects, facial dysmorphism, episodic hypoglycemia, and neurological symptoms. ...On the first day of life bradycardia due to …
Timothy syndrome 1 (TS1) is a rare genetic disorder characterized by multisystem abnormalities including QT prolongation, cong …
Inherited calcium channelopathies in the pathophysiology of arrhythmias.
Venetucci L, Denegri M, Napolitano C, Priori SG. Venetucci L, et al. Nat Rev Cardiol. 2012 Oct;9(10):561-75. doi: 10.1038/nrcardio.2012.93. Epub 2012 Jun 26. Nat Rev Cardiol. 2012. PMID: 22733215 Review.
Firstly, we discuss mutations in the genes encoding the ryanodine receptor 2 (RYR2) and calsequestrin 2 (CASQ2). These proteins are pivotal to the regulation of calcium release from the sarcoplasmic reticulum, and mutations can cause CPVT. ...Mutations in these gene …
Firstly, we discuss mutations in the genes encoding the ryanodine receptor 2 (RYR2) and calsequestrin 2 (CASQ2). These protein …
14 results