Genomes and Genes
Experts and Doctors on sodium channels in United States
Locale: United States
Topic: sodium channels
Publications132 found, 100 shown here
- Hershberger R, Parks S, Kushner J, Li D, Ludwigsen S, Jakobs P, et al. Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clin Transl Sci. 2008;1:21-6 pubmed publisher..8%) and 18 of 183 with FDC (9.8%) Mutations of these six genes each account for a small fraction of the genetic cause of FDC/IDC. The frequency of possible or likely disease-causing mutations in these genes is similar for IDC and FDC. ..
- Fergestad T, Ganetzky B, Palladino M. Neuropathology in Drosophila membrane excitability mutants. Genetics. 2006;172:1031-42 pubmed..Disruption of these signaling mechanisms in any of a variety of ways increases the incidence of neurodegeneration. ..
- Nadeau H, Lester H. NRSF causes cAMP-sensitive suppression of sodium current in cultured hippocampal neurons. J Neurophysiol. 2002;88:409-21 pubmed..The striking similarity of the phenotypes makes NRSF potentially useful as a genetic "silencer" and also suggests avenues of further exploration that may elucidate the transcription factor's in vivo role in neuronal plasticity...
- Tester D, Will M, Haglund C, Ackerman M. Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005;2:507-17 pubmed..These observations should facilitate diagnostic interpretation of the clinical genetic test for LQTS. ..
- Hu X, Zhou X, He W, Yang J, Xiong W, Wong P, et al. BACE1 deficiency causes altered neuronal activity and neurodegeneration. J Neurosci. 2010;30:8819-29 pubmed publisher..The knowledge from this study is crucial for the development of BACE1 inhibitors for Alzheimer's therapy and to the applicative study of epilepsy. ..
- Sotoodehnia N, Isaacs A, de Bakker P, Dorr M, Newton Cheh C, Nolte I, et al. Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet. 2010;42:1068-76 pubmed publisher..These findings extend our current knowledge of ventricular depolarization and conduction...
- Poelzing S, Forleo C, Samodell M, Dudash L, Sorrentino S, Anaclerio M, et al. SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene. Circulation. 2006;114:368-76 pubmed..More importantly, this study suggests that genetic polymorphisms may be a potential target for future therapies aimed at rescuing specific dysfunctional protein channels. ..
- Trzaska K, Reddy B, Munoz J, Li K, Ye J, Rameshwar P. Loss of RE-1 silencing factor in mesenchymal stem cell-derived dopamine progenitors induces functional maturity. Mol Cell Neurosci. 2008;39:285-90 pubmed publisher..Taken together, these results show REST as the limiting gene in the generation of functional mature neurons from MSCs. ..
- Wu L, Nishiyama K, Hollyfield J, Wang Q. Localization of Nav1.5 sodium channel protein in the mouse brain. Neuroreport. 2002;13:2547-51 pubmed..These results suggest that Na(v)1.5 protein may play a role in the physiology of the central nervous system (generation and propagation of electrical signals by axons). ..
- Tan B, Iturralde Torres P, Medeiros Domingo A, Nava S, Tester D, Valdivia C, et al. A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia. Cardiovasc Res. 2007;76:409-17 pubmed..It has a marked loss-of-function and unique phenotype of SSS, CCD and VT with incomplete penetrance. ..
- Wang S, Tikhonov D, Mitchell J, Zhorov B, Wang G. Irreversible block of cardiac mutant Na+ channels by batrachotoxin. Channels (Austin). 2007;1:179-88 pubmed..5-N927 is critical for ion permeation between bound BTX and D2S6, probably because the side-chain of N927 helps coordinate permeating Na(+) ions. ..
- Bottein Dechraoui M, Ramsdell J. Type B brevetoxins show tissue selectivity for voltage-gated sodium channels: comparison of brain, skeletal muscle and cardiac sodium channels. Toxicon. 2003;41:919-27 pubmed..The lower selectivity of type B brevetoxins for heart sodium channels may result from a more rigid backbone structure than is found in type A brevetoxins and ciguatoxins. ..
- Hong C, Ganetzky B. Molecular characterization of neurally expressing genes in the para sodium channel gene cluster of drosophila. Genetics. 1996;142:879-92 pubmed
- Guertin A, Zhang D, Mak K, Alberta J, Kim H. Microanatomy of axon/glial signaling during Wallerian degeneration. J Neurosci. 2005;25:3478-87 pubmed
- Dechraoui M, Wacksman J, Ramsdell J. Species selective resistance of cardiac muscle voltage gated sodium channels: characterization of brevetoxin and ciguatoxin binding sites in rats and fish. Toxicon. 2006;48:702-12 pubmed..These new insights into PbTxs and CTXs binding in fish and mammalian excitable tissues indicate a species related resistance of heart VGSC in the rat; yet, with comparable sensitivity between the species for brain and skeletal muscle. ..
- Xiao C, Zhou C, Li K, Davies D, Ye J. Purinergic type 2 receptors at GABAergic synapses on ventral tegmental area dopamine neurons are targets for ethanol action. J Pharmacol Exp Ther. 2008;327:196-205 pubmed publisher..These findings are also consistent with the notion that P2Rs at GABA-releasing terminals on VTA dopaminergic neurons are important targets for ethanol action. ..
- Liu J, Moss A, Jons C, Benhorin J, Schwartz P, Spazzolini C, et al. Mutation-specific risk in two genetic forms of type 3 long QT syndrome. Am J Cardiol. 2010;105:210-3 pubmed publisher..The findings highlight the importance of knowing the specific mutation in risk stratification of patients with long QT syndrome type 3. ..
- Jansson K, Lynch J, Lepori Bui N, Czymmek K, Duncan R, Sikes R. Overexpression of the VSSC-associated CAM, ?-2, enhances LNCaP cell metastasis associated behavior. Prostate. 2012;72:1080-92 pubmed publisher..Functional overexpression of VSSC ?-subunits in PCa may be one mechanism leading to increased metastatic behavior while decreasing the ability to form localized tumor masses. ..
- Litt M, Luty J, Kwak M, Allen L, Magenis R, Mandel G. Localization of a human brain sodium channel gene (SCN2A) to chromosome 2. Genomics. 1989;5:204-8 pubmed..In situ hybridization to metaphase chromosomes confirms this assignment and indicates regional localization to 2q21-q33. The probe also reveals a frequent two-allele HaeIII RFLP. ..
- Denault D, Fejes Toth G, Naray Fejes Toth A. Aldosterone regulation of sodium channel gamma-subunit mRNA in cortical collecting duct cells. Am J Physiol. 1996;271:C423-8 pubmed..These results indicate that Na+ channel gamma-subunit mRNA levels are increased by aldosterone and that this increase is likely to be responsible, at least in part, for the aldosterone-induced Na+ current in the kidney...
- DiPetrillo K, Coutermarsh B, Soucy N, Hwa J, Gesek F. Tumor necrosis factor induces sodium retention in diabetic rats through sequential effects on distal tubule cells. Kidney Int. 2004;65:1676-83 pubmed..These findings are consistent with a sequential mechanism by which chronic and acute TNF actions at the distal tubule cellular level contribute to whole animal sodium retention during diabetes. ..
- Kim Y, Trussell L. Ion channels generating complex spikes in cartwheel cells of the dorsal cochlear nucleus. J Neurophysiol. 2007;97:1705-25 pubmed..Thus the diverse electrical behavior of cartwheel cells is determined by the interaction of a wide variety of ion channels with a prominent role played by Ca(2+). ..
- Cushman K, Marsh Haffner J, Adelman J, McCleskey E. A conformation change in the extracellular domain that accompanies desensitization of acid-sensing ion channel (ASIC) 3. J Gen Physiol. 2007;129:345-50 pubmed..Despite large effects on desensitization by mutations at positions 78 and 79-including a shift to 10-fold lower proton concentration with the E79A mutant-there are not significant effects on activation. ..
- Tan B, Pundi K, Van Norstrand D, Valdivia C, Tester D, Medeiros Domingo A, et al. Sudden infant death syndrome-associated mutations in the sodium channel beta subunits. Heart Rhythm. 2010;7:771-8 pubmed publisher..5 cardiac sodium channel. Recently, Na(V) beta subunits have been implicated in various cardiac arrhythmias. Thus, the 4 genes encoding Na(V) beta subunits represent plausible candidate genes for SIDS...
- Albrieux M, Platel J, Dupuis A, Villaz M, Moody W. Early expression of sodium channel transcripts and sodium current by cajal-retzius cells in the preplate of the embryonic mouse neocortex. J Neurosci. 2004;24:1719-25 pubmed..These results raise the possibility that populations of pioneer neurons of the PP, including Cajal-Retzius cells, gain neuronal physiological properties early in development via expression of the Na(v)1.3 (SCN3) Na channel isoform. ..
- Bartoo A, Sprunger L, Schneider D. Expression and distribution of TTX-sensitive sodium channel alpha subunits in the enteric nervous system. J Comp Neurol. 2005;486:117-31 pubmed..These data suggest that Na(v)1.1 may not be highly expressed in the ENS, but that Na(v)1.2, Na(v)1.3, and Na(v)1.6, and possibly Na(v)1.7, have broadly important and distinct functions in the ENS. ..
- Ahn M, Beacham D, Westenbroek R, Scheuer T, Catterall W. Regulation of Na(v)1.2 channels by brain-derived neurotrophic factor, TrkB, and associated Fyn kinase. J Neurosci. 2007;27:11533-42 pubmed..These results indicate that Fyn kinase is associated with sodium channels in brain neurons and can modulate Na(V)1.2 channels by tyrosine phosphorylation after activation of TrkB/p75 signaling by BDNF. ..
- Wu L, Yong S, Fan C, Ni Y, Yoo S, Zhang T, et al. Identification of a new co-factor, MOG1, required for the full function of cardiac sodium channel Nav 1.5. J Biol Chem. 2008;283:6968-78 pubmed publisher..This study further demonstrates the functional diversity of Nav1.5-binding proteins, which serve important functions for Nav1.5 under different cellular conditions. ..
- Statland J, Bundy B, Wang Y, Rayan D, Trivedi J, Sansone V, et al. Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial. JAMA. 2012;308:1357-65 pubmed publisher..Mexiletine-induced sodium channel blockade reduced myotonia in small studies; however, as is common in rare diseases, larger studies of safety and efficacy have not previously been considered feasible...
- Thompson A, Zakon H, Kirkpatrick M. Compensatory Drift and the Evolutionary Dynamics of Dosage-Sensitive Duplicate Genes. Genetics. 2016;202:765-74 pubmed publisher..The results indicate that functionally redundant paralogs still may undergo radical functional changes after a prolonged period of compensatory drift. ..
- Stern M, Kreber R, Ganetzky B. Dosage effects of a Drosophila sodium channel gene on behavior and axonal excitability. Genetics. 1990;124:133-43 pubmed..We conclude that the number of sodium channels present in at least some Drosophila neurons can be affected by changes in para+ gene dosage, and that the level of para+ expression can strongly influence neuronal excitability. ..
- Mello C, Draper B, Priess J. The maternal genes apx-1 and glp-1 and establishment of dorsal-ventral polarity in the early C. elegans embryo. Cell. 1994;77:95-106 pubmed..Our results suggest how interactions mediated by glp-1 and apx-1 contribute to the establishment of the dorsal-ventral axis in the early C. elegans embryo. ..
- Klyachko V, Ahern G, Jackson M. cGMP-mediated facilitation in nerve terminals by enhancement of the spike afterhyperpolarization. Neuron. 2001;31:1015-25 pubmed..Thus, the cGMP/nitric oxide cascade generates a short-term, use-dependent enhancement of release. ..
- Bourdelais A, Campbell S, Jacocks H, Naar J, Wright J, Carsi J, et al. Brevenal is a natural inhibitor of brevetoxin action in sodium channel receptor binding assays. Cell Mol Neurobiol. 2004;24:553-63 pubmed..5. Brevenal may serve as a model compound for the development of therapeutics to prevent or reverse intoxication in red tide exposures. ..
- Zakon H, Lu Y, Zwickl D, Hillis D. Sodium channel genes and the evolution of diversity in communication signals of electric fishes: convergent molecular evolution. Proc Natl Acad Sci U S A. 2006;103:3675-80 pubmed..Thus, changes in the expression and sequence of the same gene are associated with the independent evolution of signal complexity...
- Yang Y, Ogawa Y, Hedstrom K, Rasband M. betaIV spectrin is recruited to axon initial segments and nodes of Ranvier by ankyrinG. J Cell Biol. 2007;176:509-19 pubmed..Finally, using adenovirus for transgene delivery into myelinated neurons, we demonstrate that betaIV spectrin recruitment to nodes of Ranvier also depends on binding to ankG. ..
- YONKERS M, Ribera A. Molecular components underlying nongenomic thyroid hormone signaling in embryonic zebrafish neurons. Neural Dev. 2009;4:20 pubmed publisher..6a. Our in vivo analyses identify molecules required for T4's rapid regulation of voltage-gated sodium current. ..
- Thackeray J, Ganetzky B. Developmentally regulated alternative splicing generates a complex array of Drosophila para sodium channel isoforms. J Neurosci. 1994;14:2569-78 pubmed..Although multiple sodium channel genes have already been described in both Drosophila and mammalian systems, this study provides a clear indication that sodium channel variability may be much greater than previously thought...
- Ji H, Benos D. Degenerin sites mediate proton activation of deltabetagamma-epithelial sodium channel. J Biol Chem. 2004;279:26939-47 pubmed..Proton-sensitivity of deltabetagamma-hENaC may be an important mechanism for integrating external ischemic signals in inflamed and hypoxic tissues. ..
- Veizis I, Cotton C. Abnormal EGF-dependent regulation of sodium absorption in ARPKD collecting duct cells. Am J Physiol Renal Physiol. 2005;288:F474-82 pubmed..The results of these studies reveal that the mislocalized apical EGF receptors are functionally coupled to the ERK pathway and that abnormal EGF-dependent regulation of ENaC function and expression may contribute to PKD pathophysiology...
- Jacklet J, Grizzaffi J, Tieman D. Serotonin and cAMP induce excitatory modulation of a serotonergic neuron. J Neurobiol. 2006;66:499-510 pubmed..The outward current that remains when sodium and calcium currents are blocked is reduced by 5-HT. Thus, 5-HT enhances two different cation currents and reduces potassium currents. ..
- Li G, Meredith F, Rennie K. Development of K(+) and Na(+) conductances in rodent postnatal semicircular canal type I hair cells. Am J Physiol Regul Integr Comp Physiol. 2010;298:R351-8 pubmed publisher..Understanding the ionic changes associated with hair cell maturation could help elucidate development and regeneration mechanisms in the inner ear. ..
- Corrow K, Girard B, Vizzard M. Expression and response of acid-sensing ion channels in urinary bladder to cyclophosphamide-induced cystitis. Am J Physiol Renal Physiol. 2010;298:F1130-9 pubmed publisher..Future studies are necessary to determine ASIC isoform contributions to micturition reflexes in control and inflamed urinary bladder. ..
- Fox L, Shen J, Ma K, Liu Q, Shi G, Pappas G, et al. Membrane properties of neuron-like cells generated from adult human bone-marrow-derived mesenchymal stem cells. Stem Cells Dev. 2010;19:1831-41 pubmed publisher..These results demonstrate that hMeSCs were capable of generating cells with characteristics typical of functional neurons that may prove useful for neuroreplacement therapies. ..
- Saxena S, Quick M, Tousson A, Oh Y, Warnock D. Interaction of syntaxins with the amiloride-sensitive epithelial sodium channel. J Biol Chem. 1999;274:20812-7 pubmed
- Valdivia C, Ackerman M, Tester D, Wada T, McCormack J, Ye B, et al. A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine. Cardiovasc Res. 2002;55:279-89 pubmed..Mutations in the cardiac sodium channel gene, SCN5A, cause congenital long QT syndrome (LQT3), Brugada syndrome, idiopathic ventricular fibrillation, and conduction disease by distinct cellular and clinical electrophysiological phenotypes...
- Keller Wood M, Wood C, Hua Y, Zhang D. Mineralocorticoid receptor expression in late-gestation ovine fetal lung. J Soc Gynecol Investig. 2005;12:84-91 pubmed..These results indicate that the molecular apparatus for mineralocorticoid-stimulated lung liquid reabsorption is present in epithelium by 120 days' gestation. ..
- Ackerman M, Splawski I, Makielski J, Tester D, Will M, Timothy K, et al. Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. Heart Rhythm. 2004;1:600-7 pubmed
- Kile K, Tian N, Durand D. Scn2a sodium channel mutation results in hyperexcitability in the hippocampus in vitro. Epilepsia. 2008;49:488-99 pubmed..The data support the hypothesis that modified Scn2a channels in Q54 mice result in network hyperexcitability of the hippocampus necessary for the development and maintenance of temporal lobe seizures. ..
- Ueda K, Valdivia C, Medeiros Domingo A, Tester D, Vatta M, Farrugia G, et al. Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. Proc Natl Acad Sci U S A. 2008;105:9355-60 pubmed publisher..These results establish an SNTA1-based nNOS complex attached to SCN5A as a key regulator of sodium current and suggest that SNTA1 be considered a rare LQTS-susceptibility gene. ..
- Mays T, Sanford J, Hanada T, Chishti A, Rafael Fortney J. Glutamate receptors localize postsynaptically at neuromuscular junctions in mice. Muscle Nerve. 2009;39:343-9 pubmed publisher..Kir2 potassium channels also localize with Dlg and glutamate receptors at this synapse. Localization of the components of a glutamatergic system suggests novel mechanisms at mammalian neuromuscular synapses. ..
- Carrithers L, Hulseberg P, Sandor M, Carrithers M. The human macrophage sodium channel NaV1.5 regulates mycobacteria processing through organelle polarization and localized calcium oscillations. FEMS Immunol Med Microbiol. 2011;63:319-27 pubmed publisher..5 and mitochondrial-dependent calcium signaling regulate mycobacteria phagocytosis and phagosome maturation in human macrophages through spatial-temporal coordination of calcium signaling within a unique subcellular region. ..
- Kazarinova Noyes K, Malhotra J, McEwen D, Mattei L, Berglund E, Ranscht B, et al. Contactin associates with Na+ channels and increases their functional expression. J Neurosci. 2001;21:7517-25 pubmed..Contactin may thus significantly influence the functional expression and distribution of Na(+) channels in neurons. ..
- Yu F, Westenbroek R, Silos Santiago I, McCormick K, Lawson D, Ge P, et al. Sodium channel beta4, a new disulfide-linked auxiliary subunit with similarity to beta2. J Neurosci. 2003;23:7577-85 pubmed..This novel, disulfide-linked beta subunit is likely to affect both protein-protein interactions and physiological function of multiple sodium channel alpha subunits. ..
- Wu L, Archacki S, Zhang T, Wang Q. Induction of high STAT1 expression in transgenic mice with LQTS and heart failure. Biochem Biophys Res Commun. 2007;358:449-54 pubmed..This study represents the first microarray analysis for LQTS and implicates STAT1 in the pathogenesis and progression of LQTS and heart failure. ..
- Shinlapawittayatorn K, Du X, Liu H, Ficker E, Kaufman E, Deschenes I. A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations. Heart Rhythm. 2011;8:455-62 pubmed publisher..Our results also suggest that the SCN5A polymorphism H558R might be a disease-modifying gene. ..
- Beckman M, Bernstein E, Quick M. Protein kinase C regulates the interaction between a GABA transporter and syntaxin 1A. J Neurosci. 1998;18:6103-12 pubmed..These results suggest a new target for regulation by syntaxin 1A and a novel mechanism for controlling the machinery involved in both neurotransmitter release and reuptake. ..
- Ou Y, Strege P, Miller S, Makielski J, Ackerman M, Gibbons S, et al. Syntrophin gamma 2 regulates SCN5A gating by a PDZ domain-mediated interaction. J Biol Chem. 2003;278:1915-23 pubmed
- Sherwood T, Askwith C. Dynorphin opioid peptides enhance acid-sensing ion channel 1a activity and acidosis-induced neuronal death. J Neurosci. 2009;29:14371-80 pubmed publisher..Together, these results define ASIC1a as a new nonopioid target for dynorphin action and suggest that dynorphins enhance neuronal damage following ischemia by preventing steady-state desensitization of ASIC1a. ..
- Gu C, Gu Y. Clustering and activity tuning of Kv1 channels in myelinated hippocampal axons. J Biol Chem. 2011;286:25835-47 pubmed publisher..This effect was eliminated by the Tyr??? mutation or by cholesterol depletion. Taken together, our studies suggest that myelin regulates both trafficking and activity of Kv1 channels along hippocampal axons through TAG-1. ..
- Goldschen Ohm M, Capes D, Oelstrom K, Chanda B. Multiple pore conformations driven by asynchronous movements of voltage sensors in a eukaryotic sodium channel. Nat Commun. 2013;4:1350 pubmed publisher..These findings shed new light on the mechanism of coupling between activation and fast inactivation in voltage-gated sodium channels...
- Schoenherr C, Anderson D. The neuron-restrictive silencer factor (NRSF): a coordinate repressor of multiple neuron-specific genes. Science. 1995;267:1360-3 pubmed..NRSF represents the first example of a vertebrate silencer protein that potentially regulates a large battery of cell type-specific genes, and therefore may function as a master negative regulator of neurogenesis. ..
- Balkowiec A, Katz D. Cellular mechanisms regulating activity-dependent release of native brain-derived neurotrophic factor from hippocampal neurons. J Neurosci. 2002;22:10399-407 pubmed..The dual requirement for calcium influx through N-type calcium channels and calcium mobilization from intracellular stores strongly implicates a role for calcium-induced calcium release in activity-dependent BDNF secretion. ..
- Veizis E, Carlin C, Cotton C. Decreased amiloride-sensitive Na+ absorption in collecting duct principal cells isolated from BPK ARPKD mice. Am J Physiol Renal Physiol. 2004;286:F244-54 pubmed
- Engel A, Ohno K, Shen X, Sine S. Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction. Ann N Y Acad Sci. 2003;998:138-60 pubmed..In a subset of CMS patients, endplate AChR deficiency is caused by mutations in rapsyn, a molecule that plays a critical role in concentrating AChR in the postsynaptic membrane...
- Xiong Z, Zhu X, Chu X, Minami M, Hey J, Wei W, et al. Neuroprotection in ischemia: blocking calcium-permeable acid-sensing ion channels. Cell. 2004;118:687-98 pubmed..Thus, acidosis injures the brain via membrane receptor-based mechanisms with resultant toxicity of [Ca2+]i, disclosing new potential therapeutic targets for stroke. ..
- Chen L, Ballew J, Herron K, Rodeheffer R, Olson T. A common polymorphism in SCN5A is associated with lone atrial fibrillation. Clin Pharmacol Ther. 2007;81:35-41 pubmed..6 (95% confidence interval 1.2-2.2). The SCN5A R558 allele, present in one-third of the population, thus constitutes a risk factor for lone AF and may increase susceptibility to sodium channel blocker-induced proarrhythmia. ..
- Sokolov S, Scheuer T, Catterall W. Gating pore current in an inherited ion channelopathy. Nature. 2007;446:76-8 pubmed..A survey of other ion channelopathies reveals numerous examples of mutations that would be expected to cause gating pore current, raising the possibility of a broader impact of gating pore current in ion channelopathies...
- Sherwood T, Franke R, Conneely S, Joyner J, Arumugan P, Askwith C. Identification of protein domains that control proton and calcium sensitivity of ASIC1a. J Biol Chem. 2009;284:27899-907 pubmed publisher..These results indicate that specific regions play overlapping roles in pH-dependent gating and PcTx1-dependent modulation of ASIC1a activity, whereas a distinct region determines the calcium dependence of ASIC1a activation. ..
- Tester D, Valdivia C, Harris Kerr C, Alders M, Salisbury B, Wilde A, et al. Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation. Heart Rhythm. 2010;7:912-9 pubmed publisher..These results also question how much cellular dysfunction for a mutation is required in vitro to support pathogenicity. ..
- Clark E, Jovov B, Rooj A, Fuller C, Benos D. Proteolytic cleavage of human acid-sensing ion channel 1 by the serine protease matriptase. J Biol Chem. 2010;285:27130-43 pubmed publisher..Site-directed mutagenesis of these sites prevented matriptase cleavage of ASIC1. Our results show that matriptase is expressed in glioma cells and that matriptase specifically cleaves ASIC1 in heterologous expression systems. ..
- Starostina E, Liu T, Vijayan V, Zheng Z, Siwicki K, Pikielny C. A Drosophila DEG/ENaC subunit functions specifically in gustatory neurons required for male courtship behavior. J Neurosci. 2012;32:4665-74 pubmed publisher..Furthermore, our work identifies a small subset of gustatory neurons with an essential role in activation of male courtship behavior, most likely in response to female pheromones. ..
- Thackeray J, Ganetzky B. Conserved alternative splicing patterns and splicing signals in the Drosophila sodium channel gene para. Genetics. 1995;141:203-14 pubmed
- Christian E, Togo J. Excitable properties and underlying Na+ and K+ currents in neurons from the guinea-pig jugular ganglion. J Auton Nerv Syst. 1995;56:75-86 pubmed..g., deficiency of rapid IA, and lack of a TTX-sensitive subpopulation), relative to those known for other visceral and somatic afferents, and thus provide a basis for further functional studies...
- Ruff R. Effects of temperature on slow and fast inactivation of rat skeletal muscle Na(+) channels. Am J Physiol. 1999;277:C937-47 pubmed..Consequently, the low availability of excitable Na(+) channels at subphysiological temperatures resulted from channels being in the slow, inactivated state at the resting potential...
- Chu X, Miesch J, Johnson M, Root L, Zhu X, Chen D, et al. Proton-gated channels in PC12 cells. J Neurophysiol. 2002;87:2555-61 pubmed..It might be an ideal neuronal cell line for the study of physiological and potential pathological roles of this key subunit of ASICs. ..
- Tian X, Yong S, Wan X, Wu L, Chung M, Tchou P, et al. Mechanisms by which SCN5A mutation N1325S causes cardiac arrhythmias and sudden death in vivo. Cardiovasc Res. 2004;61:256-67 pubmed
- Yin X, Baek R, Kirschner D, Peterson A, Fujii Y, Nave K, et al. Evolution of a neuroprotective function of central nervous system myelin. J Cell Biol. 2006;172:469-78 pubmed..These data support the hypothesis that the P0-PLP shift during vertebrate evolution provided a vital neuroprotective function to myelin-forming CNS glia. ..
- Hedstrom K, Xu X, Ogawa Y, Frischknecht R, Seidenbecher C, Shrager P, et al. Neurofascin assembles a specialized extracellular matrix at the axon initial segment. J Cell Biol. 2007;178:875-86 pubmed..Thus, NF-186 assembles and links the specialized brevican-containing AIS extracellular matrix to the intracellular cytoskeleton. ..
- Chancey J, Shockett P, O Reilly J. Relative resistance to slow inactivation of human cardiac Na+ channel hNav1.5 is reversed by lysine or glutamine substitution at V930 in D2-S6. Am J Physiol Cell Physiol. 2007;293:C1895-905 pubmed..5. We suggest that conformational change involving D2-S6 is a critical component of SI in Na(v)s, which may be differentially regulated between isoforms by other isoform-specific determinants of SI phenotype. ..
- Mazzone A, Strege P, Tester D, Bernard C, Faulkner G, De Giorgio R, et al. A mutation in telethonin alters Nav1.5 function. J Biol Chem. 2008;283:16537-44 pubmed publisher..These results suggest a new role for telethonin, namely that telethonin is a sodium channel-interacting protein. Also, mutations in telethonin can alter Na(v)1.5 kinetics and may play a role in intestinal pseudo-obstruction. ..
- Cheng J, Van Norstrand D, Medeiros Domingo A, Valdivia C, Tan B, Ye B, et al. Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current. Circ Arrhythm Electrophysiol. 2009;2:667-76 pubmed publisher..Functional studies are essential to distinguish pathogenic perturbations in channel interacting proteins such as alpha1-syntrophin from similarly rare but innocuous ones. ..
- Staud R, Price D, Janicke D, Andrade E, Hadjipanayis A, Eaton W, et al. Two novel mutations of SCN9A (Nav1.7) are associated with partial congenital insensitivity to pain. Eur J Pain. 2011;15:223-30 pubmed publisher..The ability to sense at least some danger signals may be advantageous and ameliorate the otherwise increased morbidity and mortality of some individuals with congenital insensitivity to pain. ..
- Bender K, Ford C, Trussell L. Dopaminergic modulation of axon initial segment calcium channels regulates action potential initiation. Neuron. 2010;68:500-11 pubmed publisher..This pathway represents a new mechanism to inhibit neurons by specifically regulating Ca(2+) channels directly involved in action potential initiation...
- Loughney K, Kreber R, Ganetzky B. Molecular analysis of the para locus, a sodium channel gene in Drosophila. Cell. 1989;58:1143-54 pubmed..Furthermore, the para transcript appears to undergo alternative splicing to produce several distinct subtypes of this channel. ..