Elevated basal transcription can underlie timothy channel association with autism related disorders
Tài liệu tham khảo
Adviento, 2014, Autism traits in the RASopathies, J. Med. Genet., 51, 10, 10.1136/jmedgenet-2013-101951
Almagor, 2012, Ca(V)1.2 I-II linker structure and Timothy syndrome, Channels Austin (Austin), 6, 468, 10.4161/chan.22078
Ando, 2004, Regulated fast nucleocytoplasmic shuttling observed by reversible protein highlighting, Science, 306, 1370, 10.1126/science.1102506
Atlas, 2014, Voltage-gated calcium channels function as Ca2+-activated signaling receptors, Trends Biochem. Sci., 39, 45, 10.1016/j.tibs.2013.12.005
Benito, 2015, The neuronal activity-driven transcriptome, Mol. Neurobiol., 51, 1071, 10.1007/s12035-014-8772-z
Betzig, 2006, Imaging intracellular fluorescent proteins at nanometer resolution, Science, 313, 1642, 10.1126/science.1127344
Bhat, 2012, CACNA1C (Cav1.2) in the pathophysiology of psychiatric disease, Prog. Neurobiol., 99, 1, 10.1016/j.pneurobio.2012.06.001
Boczek, 2015, Novel Timothy syndrome mutation leading to increase in CACNA1C window current, Heart Rhythm, 12, 211, 10.1016/j.hrthm.2014.09.051
Calorio, 2019, Impaired chromaffin cell excitability and exocytosis in autistic Timothy syndrome TS2-neo mouse rescued by L-type calcium channel blockers, J. Physiol. (Paris), 597, 1705
Cohen, 2015, Evolutionary and functional perspectives on signaling from neuronal surface to nucleus, Biochem. Biophys. Res. Commun., 460, 88, 10.1016/j.bbrc.2015.02.146
Cohen-Kutner, 2013, Thioredoxin-mimetic peptides (TXM) reverse auranofin induced apoptosis and restore insulin secretion in insulinoma cells, Biochem. Pharmacol., 85, 977, 10.1016/j.bcp.2013.01.003
Cohen-Kutner, 2012, Calcineurin controls voltage-dependent-Inactivation (VDI) of the normal and timothy cardiac channels, Sci. Rep., 2, 366, 10.1038/srep00366
Dedic, 2018, Cross-disorder risk gene CACNA1C differentially modulates susceptibility to psychiatric disorders during development and adulthood, Mol. Psychiatry, 23, 533, 10.1038/mp.2017.133
Deisseroth, 2002, Dynamic multiphosphorylation passwords for activity-dependent gene expression, Neuron, 34, 179, 10.1016/S0896-6273(02)00664-5
Dick, 2016, Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivation, Nat. Commun., 7, 10370, 10.1038/ncomms10370
Dixon, 2015, Graded Ca(2)(+)/calmodulin-dependent coupling of voltage-gated CaV1.2 channels, Elife, 4, 10.7554/eLife.05608
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
Dolmetsch, 2001, Signaling to the nucleus by an L-type calcium channel-calmodulin complex through the MAP kinase pathway, Science, 294, 333, 10.1126/science.1063395
Dore, 2016, The emergence of NMDA receptor metabotropic function: insights from imaging, Front. Synaptic Neurosci., 8, 20, 10.3389/fnsyn.2016.00020
Ebert, 2013, Activity-dependent neuronal signalling and autism spectrum disorder, Nature, 493, 327, 10.1038/nature11860
Flavell, 2008, Signaling mechanisms linking neuronal activity to gene expression and plasticity of the nervous system, Annu. Rev. Neurosci., 31, 563, 10.1146/annurev.neuro.31.060407.125631
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
Grinberg, 2005, N-acetylcysteine amide, a novel cell-permeating thiol, restores cellular glutathione and protects human red blood cells from oxidative stress, Free Radic. Biol. Med., 38, 136, 10.1016/j.freeradbiomed.2004.09.025
Hagalili, 2008, The voltage-gated Ca(2+) channel is the Ca(2+) sensor protein of secretion, Biochemistry, 47, 13822, 10.1021/bi801619f
Hagenston, 2011, Calcium signaling in synapse-to-nucleus communication, Cold Spring Harb. Perspect. Biol., 3, a004564, 10.1101/cshperspect.a004564
Helbig, 2018, De novo pathogenic variants in CACNA1E cause developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias, Am. J. Hum. Genet., 103, 666, 10.1016/j.ajhg.2018.09.006
Hohaus, 2005, Structural determinants of L-type channel activation in segment IIS6 revealed by a retinal disorder, J. Biol. Chem., 280, 38471, 10.1074/jbc.M507013200
Jeon, 2010, ). Observational fear learning involves affective pain system and Cav1.2 Ca2+ channels in ACC, Nat. Neurosci., 13, 482, 10.1038/nn.2504
Krey, 2013, Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons, Nat. Neurosci., 16, 201, 10.1038/nn.3307
Li, 2016, Sequential ionic and conformational signaling by calcium channels drives neuronal gene expression, Science, 351, 863, 10.1126/science.aad3647
Limpitikul, 2017, A precision medicine approach to the rescue of function on malignant calmodulinopathic Long-QT syndrome, Circ. Res., 120, 39, 10.1161/CIRCRESAHA.116.309283
Marom, 2010, Conformational changes induced in voltage-gated calcium channel Cav1.2 by BayK 8644 or FPL64176 modify the kinetics of secretion independently of Ca2+ influx, J. Biol. Chem., 285, 6996, 10.1074/jbc.M109.059865
Meynier, 2020, After 95years, it’s time to eRASe JMML, Blood Rev., 10.1016/j.blre.2020.100652
Moon, 2018, CACNA1C: association with psychiatric disorders, behavior, and neurogenesis, Schizophr. Bull., 44, 958, 10.1093/schbul/sby096
Navedo, 2010, Increased coupled gating of L-type Ca2+ channels during hypertension and Timothy syndrome, Circ. Res., 106, 748, 10.1161/CIRCRESAHA.109.213363
Nowaczyk, 2014, Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?, Clin. Genet., 85, 138, 10.1111/cge.12116
Ortner, 2016, L-type calcium channels as drug targets in CNS disorders, Channels Austin (Austin), 10, 7, 10.1080/19336950.2015.1048936
Ovesny, 2014, ThunderSTORM: a comprehensive ImageJ plug-in for PALM and STORM data analysis and super-resolution imaging, Bioinformatics, 30, 2389, 10.1093/bioinformatics/btu202
Pinggera, 2015, CACNA1D de novo mutations in autism spectrum disorders activate Cav1.3 L-type calcium channels, Biol. Psychiatry, 77, 816, 10.1016/j.biopsych.2014.11.020
Pinggera, 2017, New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy, Hum. Mol. Genet., 26, 2923, 10.1093/hmg/ddx175
Pragnell, 1994, Calcium channel beta-subunit binds to a conserved motif in the I-II cytoplasmic linker of the alpha 1-subunit, Nature, 368, 67, 10.1038/368067a0
Raybaud, 2007, The role of distal S6 hydrophobic residues in the voltage-dependent gating of CaV2.3 channels, J. Biol. Chem., 282, 27944, 10.1074/jbc.M703895200
Raybaud, 2006, The role of the GX9GX3G motif in the gating of high voltage-activated Ca2+ channels, J. Biol. Chem., 281, 39424, 10.1074/jbc.M607405200
Sajman, 2017, The L-type Voltage-Gated Calcium Channel co-localizes with Syntaxin 1A in nano-clusters at the plasma membrane, Sci. Rep., 7, 11350, 10.1038/s41598-017-10588-4
Servili, 2019, Ion occupancy of the channel pore is critical for triggering excitation-transcription (ET) coupling, Cell Calcium, 84, 10.1016/j.ceca.2019.102102
Servili, 2018, Beta-Subunit of the voltage-gated Ca(2+) channel Cav1.2 drives signaling to the nucleus via H-Ras, Proc. Natl. Acad. Sci. U. S. A., 115, E8624, 10.1073/pnas.1805380115
Sheng, 1991, CREB: a Ca(2+)-regulated transcription factor phosphorylated by calmodulin-dependent kinases, Science, 252, 1427, 10.1126/science.1646483
Sherman, 2011, Functional nanoscale organization of signaling molecules downstream of the T cell antigen receptor, Immunity, 35, 705, 10.1016/j.immuni.2011.10.004
Skafidas, 2014, Predicting the diagnosis of autism spectrum disorder using gene pathway analysis, Mol. Psychiatry, 19, 504, 10.1038/mp.2012.126
Spalding, 2013, Dynamics of hippocampal neurogenesis in adult humans, Cell, 153, 1219, 10.1016/j.cell.2013.05.002
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
Splawski, 2004, Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism, Cell, 119, 19, 10.1016/j.cell.2004.09.011
Striessnig, 2016, Voltage-gated calcium channels - from basic mechanisms to disease, J. Physiol. (Paris), 594, 5817
Van Petegem, 2008, Alanine-scanning mutagenesis defines a conserved energetic hotspot in the CaValpha1 AID-CaVbeta interaction site that is critical for channel modulation, Structure, 16, 280, 10.1016/j.str.2007.11.010
West, 2001, Calcium regulation of neuronal gene expression, Proc. Natl. Acad. Sci. U. S. A., 98, 11024, 10.1073/pnas.191352298
West, 2011, Neuronal activity-regulated gene transcription in synapse development and cognitive function, Cold Spring Harb. Perspect. Biol., 3, 10.1101/cshperspect.a005744
Wheeler, 2012, Ca(V)1 and Ca(V)2 channels engage distinct modes of Ca(2+) signaling to control CREB-dependent gene expression, Cell, 149, 1112, 10.1016/j.cell.2012.03.041
White, 2008, Conditional forebrain deletion of the L-type calcium channel Ca V 1.2 disrupts remote spatial memories in mice, Learn. Mem., 15, 1, 10.1101/lm.773208
Yifrach, 2002, Energetics of pore opening in a voltage-gated K(+) channel, Cell, 111, 231, 10.1016/S0092-8674(02)01013-9
Yucel, 2013, State-dependent signaling by Cav1.2 regulates hair follicle stem cell function, Genes Dev., 27, 1217, 10.1101/gad.216556.113
Zamponi, 2016, Targeting voltage-gated calcium channels in neurological and psychiatric diseases, Nat. Rev. Drug Discov., 15, 19, 10.1038/nrd.2015.5