| In Vivo Base Editing of Scn5a Rescues Type 3 Long QT Syndrome in Mice. | In Vivo Base Editing of Scn5a Rescues Type 3 Long QT Syndrome in Mice.
Qi M, Ma S, Liu J, Liu X, Wei J, Lu WJ, Zhang S, Chang Y, Zhang Y, Zhong K, Yan Y, Zhu M, Song Y, Chen Y, Hao G, Wang J, Wang L, Lee AS, Chen X, Wang Y, Lan F. | 02/2/2024 |
| MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be reversed by genetic and pharmacologic intervention. | MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be reversed by genetic and pharmacologic intervention.
Weigel B, Tegethoff JF, Grieder SD, Lim B, Nagarajan B, Liu YC, Truberg J, Papageorgiou D, Adrian-Segarra JM, Schmidt LK, Kaspar J, Poisel E, Heinzelmann E, Saraswat M, Christ M, Arnold C, Ibarra IL, Campos J, Krijgsveld J, Monyer H, Zaugg JB, Acuna C, Mall M., Free PMC Article | 11/16/2023 |
| SUMOylation of the cardiac sodium channel NaV1.5 modifies inward current and cardiac excitability. | SUMOylation of the cardiac sodium channel Na(V)1.5 modifies inward current and cardiac excitability.
Yoon JY, Greiner AM, Jacobs JS, Kim YR, Rasmussen TP, Kutschke WJ, Matasic DS, Vikram A, Gaddam RR, Mehdi H, Irani K, London B. | 11/7/2023 |
| Enhanced sodium channel inactivation by temperature and FHF2 deficiency blocks heat nociception. | Enhanced sodium channel inactivation by temperature and FHF2 deficiency blocks heat nociception.
Marra C, Hartke TV, Ringkamp M, Goldfarb M., Free PMC Article | 05/18/2023 |
| Familial atrial fibrillation mutation M1875T-SCN5A increases early sodium current and dampens the effect of flecainide. | Familial atrial fibrillation mutation M1875T-SCN5A increases early sodium current and dampens the effect of flecainide.
O'Reilly M, Sommerfeld LC, O'Shea C, Broadway-Stringer S, Andaleeb S, Reyat JS, Kabir SN, Stastny D, Malinova A, Delbue D, Fortmueller L, Gehmlich K, Pavlovic D, Skryabin BV, Holmes AP, Kirchhof P, Fabritz L., Free PMC Article | 04/4/2023 |
| Association between SCN5A R225Q variant and dilated cardiomyopathy: potential role of intracellular pH and WNT/beta-catenin pathway. | Association between SCN5A R225Q variant and dilated cardiomyopathy: potential role of intracellular pH and WNT/β-catenin pathway.
Hu J, Yang K, Zhao Y, Wei Z, Yang L, Gao R, Wu Y, Xu L, Xu S, Hu K, Sun A, Ge J. | 12/3/2022 |
| Transmembrane protein 168 mutation reduces cardiomyocyte cell surface expression of Nav1.5 through alphaB-crystallin intracellular dynamics. | Transmembrane protein 168 mutation reduces cardiomyocyte cell surface expression of Nav1.5 through αB-crystallin intracellular dynamics.
Nguyen LKC, Shimizu A, Soh JEC, Komeno M, Sato A, Ogita H. | 03/26/2022 |
| Phospho-ablation of cardiac sodium channel Nav1.5 mitigates susceptibility to atrial fibrillation and improves glucose homeostasis under conditions of diet-induced obesity. | Phospho-ablation of cardiac sodium channel Na(v)1.5 mitigates susceptibility to atrial fibrillation and improves glucose homeostasis under conditions of diet-induced obesity.
Dewal RS, Greer-Short A, Lane C, Nirengi S, Manzano PA, Hernández-Saavedra D, Wright KR, Nassal D, Baer LA, Mohler PJ, Hund TJ, Stanford KI., Free PMC Article | 01/15/2022 |
| Targeting the Microtubule EB1-CLASP2 Complex Modulates NaV1.5 at Intercalated Discs. | Targeting the Microtubule EB1-CLASP2 Complex Modulates Na(V)1.5 at Intercalated Discs.
Marchal GA, Jouni M, Chiang DY, Pérez-Hernández M, Podliesna S, Yu N, Casini S, Potet F, Veerman CC, Klerk M, Lodder EM, Mengarelli I, Guan K, Vanoye CG, Rothenberg E, Charpentier F, Redon R, George AL Jr, Verkerk AO, Bezzina CR, MacRae CA, Burridge PW, Delmar M, Galjart N, Portero V, Remme CA., Free PMC Article | 01/15/2022 |
| Structural and Functional Characterization of a Nav1.5-Mitochondrial Couplon. | Structural and Functional Characterization of a Na(v)1.5-Mitochondrial Couplon.
Pérez-Hernández M, Leo-Macias A, Keegan S, Jouni M, Kim JC, Agullo-Pascual E, Vermij S, Zhang M, Liang FX, Burridge P, Fenyo D, Rothenberg E, Delmar M., Free PMC Article | 07/31/2021 |
| Vascular endothelial growth factor promotes atrial arrhythmias by inducing acute intercalated disk remodeling. | Vascular endothelial growth factor promotes atrial arrhythmias by inducing acute intercalated disk remodeling.
Mezache L, Struckman HL, Greer-Short A, Baine S, Györke S, Radwański PB, Hund TJ, Veeraraghavan R., Free PMC Article | 03/28/2021 |
| Protein expression profiles in murine ventricles modeling catecholaminergic polymorphic ventricular tachycardia: effects of genotype and sex. | Protein expression profiles in murine ventricles modeling catecholaminergic polymorphic ventricular tachycardia: effects of genotype and sex.
Saadeh K, Achercouk Z, Fazmin IT, Nantha Kumar N, Salvage SC, Edling CE, Huang CL, Jeevaratnam K. | 12/12/2020 |
| Luciferase reporter assays performed in HEK 293 cells and HL-1 revealed that LF3 increased the SCN5A promoter activity in HL-1 cells and prevented beta-catenin suppressive effect on SCN5A promoter activity in HEK 293 cells. | A small-molecule LF3 abrogates β-catenin/TCF4-mediated suppression of Na(V)1.5 expression in HL-1 cardiomyocytes.
Zhao L, Sun L, Lu Y, Li F, Xu H., Free PMC Article | 07/18/2020 |
| Scn5a+/- heart ventricular slices showed longer refractory periods than wild-type hearts. | Autonomic modulation of the electrical substrate in mice haploinsufficient for cardiac sodium channels: a model of the Brugada syndrome.
Finlay M, Bhar-Amato J, Ng KE, Santos D, Orini M, Vyas V, Taggart P, Grace AA, Huang CL, Lambiase PD, Tinker A., Free PMC Article | 04/4/2020 |
| Results show that mice carrying the homologous Scn5a-p.Y1981N mutation showed no electrical disturbances nor alterations in (late) induced sodium current and action potential properties. | Functional Consequences of the SCN5A-p.Y1977N Mutation within the PY Ubiquitylation Motif: Discrepancy between HEK293 Cells and Transgenic Mice.
Casini S, Albesa M, Wang Z, Portero V, Ross-Kaschitza D, Rougier JS, Marchal GA, Chung WK, Bezzina CR, Abriel H, Remme CA., Free PMC Article | 02/29/2020 |
| Regulatory subunit (B56alpha) of the PP (protein phosphatase) 2A holoenzyme regulates Nav1.5 activity in mouse cardiomyocytes. | Protein Phosphatase 2A Regulates Cardiac Na(+) Channels.
El Refaey M, Musa H, Murphy NP, Lubbers ER, Skaf M, Han M, Cavus O, Koenig SN, Wallace MJ, Gratz D, Bradley E, Alsina KM, Wehrens XHT, Hund TJ, Mohler PJ., Free PMC Article | 12/21/2019 |
| Our findings highlight a nonmutational pathological mechanism of arrhythmias and conduction defects as a result of mis-splicing of the predominant cardiac sodium channel. Animals homozygous for the deleted exon express only the fetal isoform and have more-severe phenotypes than heterozygotes that also express the adult isoform | CRISPR -Mediated Expression of the Fetal Scn5a Isoform in Adult Mice Causes Conduction Defects and Arrhythmias.
Pang PD, Alsina KM, Cao S, Koushik AB, Wehrens XHT, Cooper TA., Free PMC Article | 11/16/2019 |
| increased ventricular collagen I depots with Cx43 downregulation and remodeling, together with clustered and diminished membrane Nav1.5 distribution, in excessive alcohol users, is reported. | Dose-related ethanol intake, Cx43 and Nav1.5 remodeling: Exploring insights of altered ventricular conduction and QRS fragmentation in excessive alcohol users.
Hung CL, Lai YJ, Chi PC, Chen LC, Tseng YM, Kuo JY, Lin CI, Chen YC, Lin SJ, Yeh HI. | 06/29/2019 |
| Deletion of Nav1.5 from astrocytes leads to significantly worsened clinical outcomes in experimental autoimmune encephalomyelitis (EAE), with increased inflammatory infiltrate in both early and late stages of disease in a sex-specific manner. Removal of Nav1.5 in astrocytes leads to increased inflammation in female mice with EAE, including increased astroglial response and infiltration of T cells and phagocytic monocytes. | Nav1.5 in astrocytes plays a sex-specific role in clinical outcomes in a mouse model of multiple sclerosis.
Pappalardo LW, Samad OA, Liu S, Zwinger PJ, Black JA, Waxman SG. | 03/23/2019 |
| The late sodium current inhibitor GS-458967 exhibits anti-arrhythmic potential in cardiac myocytes from Scn5a-1798insD+/- mice. | Anti-arrhythmic potential of the late sodium current inhibitor GS-458967 in murine Scn5a-1798insD+/- and human SCN5A-1795insD+/- iPSC-derived cardiomyocytes.
Portero V, Casini S, Hoekstra M, Verkerk AO, Mengarelli I, Belardinelli L, Rajamani S, Wilde AAM, Bezzina CR, Veldkamp MW, Remme CA. | 03/3/2018 |
| Our findings indicate that H2O2 inhibits NaV1.5 expression by activating the Wnt/b-catenin signaling and beta-catenin interacts with TCF4 to transcriptionally suppress cardiac NaV1.5 expression. | Activation of Wnt/β-catenin signaling by hydrogen peroxide transcriptionally inhibits NaV1.5 expression.
Wang N, Huo R, Cai B, Lu Y, Ye B, Li X, Li F, Xu H., Free PMC Article | 01/13/2018 |
| identified two novel native phosphorylation sites in the C terminus of NaV1.5 that impair FGF13-dependent regulation of channel inactivation and may contribute to CaMKIIdeltac-dependent arrhythmogenic disorders in failing hearts. | C-terminal phosphorylation of Na(V)1.5 impairs FGF13-dependent regulation of channel inactivation.
Burel S, Coyan FC, Lorenzini M, Meyer MR, Lichti CF, Brown JH, Loussouarn G, Charpentier F, Nerbonne JM, Townsend RR, Maier LS, Marionneau C., Free PMC Article | 10/28/2017 |
| Tetrodotoxin-sensitive alpha-subunits of voltage-gated sodium channels are relevant for inhibition of cardiac sodium currents by local anesthetics. | Tetrodotoxin-sensitive α-subunits of voltage-gated sodium channels are relevant for inhibition of cardiac sodium currents by local anesthetics.
Stoetzer C, Doll T, Stueber T, Herzog C, Echtermeyer F, Greulich F, Rudat C, Kispert A, Wegner F, Leffler A. | 02/25/2017 |
| Enhanced A-V conduction in mice overexpressing SCN5A in the heart mimics the human syndrome of Enhanced Atrioventricular Nodal Conduction . | Overexpression of SCN5A in mouse heart mimics human syndrome of enhanced atrioventricular nodal conduction.
Liu GX, Remme CA, Boukens BJ, Belardinelli L, Rajamani S. | 02/6/2016 |
| Loss of the C-terminus of connexin43 limits microtubule plus-end capture and NaV1.5 localization at the intercalated disc. | Super-resolution imaging reveals that loss of the C-terminus of connexin43 limits microtubule plus-end capture and NaV1.5 localization at the intercalated disc.
Agullo-Pascual E, Lin X, Leo-Macias A, Zhang M, Liang FX, Li Z, Pfenniger A, Lübkemeier I, Keegan S, Fenyö D, Willecke K, Rothenberg E, Delmar M., Free PMC Article | 11/28/2015 |