| A Novel Gain-of-Function KCND3 Variant Associated with Brugada Syndrome. | A Novel Gain-of-Function KCND3 Variant Associated with Brugada Syndrome.
Li X, Li Z, Wang DWW, Wang DW, Wang Y. | 08/28/2021 |
| Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt KV4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties. | Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt K(V)4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties.
Zanni G, Hsiao CT, Fu SJ, Tang CY, Capuano A, Bosco L, Graziola F, Bellacchio E, Servidei S, Primiano G, Soong BW, Jeng CJ., Free PMC Article | 06/19/2021 |
| Inter-Regulation of Kv4.3 and Voltage-Gated Sodium Channels Underlies Predisposition to Cardiac and Neuronal Channelopathies. | Inter-Regulation of K(v)4.3 and Voltage-Gated Sodium Channels Underlies Predisposition to Cardiac and Neuronal Channelopathies.
Clatot J, Neyroud N, Cox R, Souil C, Huang J, Guicheney P, Antzelevitch C., Free PMC Article | 02/20/2021 |
| KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern. | KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern.
Teumer A, Trenkwalder T, Kessler T, Jamshidi Y, van den Berg ME, Kaess B, Nelson CP, Bastiaenen R, De Bortoli M, Rossini A, Deisenhofer I, Stark K, Assa S, Braund PS, Cabrera C, Dominiczak AF, Gögele M, Hall LM, Ikram MA, Kavousi M, Lackner KJ, Lifelines Cohort Study, Müller C, Münzel T, Nauck M, Padmanabhan S, Pfeiffer N, Spector TD, Uitterlinden AG, Verweij N, Völker U, Warren HR, Zafar M, Felix SB, Kors JA, Snieder H, Munroe PB, Pattaro C, Fuchsberger C, Schmidt G, Nolte IM, Schunkert H, Pramstaller PP, Wild PS, van der Harst P, Stricker BH, Schnabel RB, Samani NJ, Hengstenberg C, Dörr M, Behr ER, Reinhard W., Free PMC Article | 10/24/2020 |
| we utilized the NGS technology to identify two novel KCND3 mutations from two distinct pedigrees with molecularly unassigned SCA. Our clinical observations broaden the genotypic and phenotypic spectrum of SCA19/22 to include cerebellar ataxia, developmental delay, cognitive impairment, myoclonus, and dystonia, thereby emphasizing the significance of KCND3 mutations in a wide range of different neurological disorders. | Novel SCA19/22-associated KCND3 mutations disrupt human K(V) 4.3 protein biosynthesis and channel gating.
Hsiao CT, Fu SJ, Liu YT, Lu YH, Zhong CY, Tang CY, Soong BW, Jeng CJ. | 03/14/2020 |
| The S248R and R250T mutations of SCN1Bbeta gene caused gain-of-function of Ito by associated with Kv4.3, which maybe underlie the early repolarization syndrome (ERS) phenotype of the probands. | SCN1Bβ mutations that affect their association with Kv4.3 underlie early repolarization syndrome.
Yao H, Fan J, Cheng YJ, Chen XM, Ji CC, Liu LJ, Zheng ZH, Wu SH., Free PMC Article | 12/14/2019 |
| The alpha subunit of Ito Kv4.3 can interact with and modify the localization of the alpha subunit of IKr hERG, thus providing potentially novel insights into the molecular mechanism of the malignant ventricular arrhythmia in heart failure. | Kv4.3 Modulates the Distribution of hERG.
Zhao XJ, Zhu C, Tian LY, Fu YC, Zhang Y, Chen X, Huang Y, Li Y., Free PMC Article | 07/20/2019 |
| This study Identified a new KCND3 phenotype and novel genes causing Dravet syndrome. | Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome.
Wang J, Wen Y, Zhang Q, Yu S, Chen Y, Wu X, Zhang Y, Bao X. | 04/20/2019 |
| mutations cause a gainoffunction of KV4.3/KChIP2encoded channels by increasing membrane protein expression and slowing channel inactivation. | Two novel Brugada syndrome-associated mutations increase KV4.3 membrane expression and function.
You T, Mao W, Cai B, Li F, Xu H., Free PMC Article | 03/26/2016 |
| Mefloquine is a concentration-dependent Ito and hKv4.3 channel blocker. | Modulation of the transient outward current (Ito) in rat cardiac myocytes and human Kv4.3 channels by mefloquine.
Perez-Cortes EJ, Islas AA, Arevalo JP, Mancilla C, Monjaraz E, Salinas-Stefanon EM. | 01/16/2016 |
| Altered Kv4.3 channel localization and/or functioning resulting from SCA19/22 mutations may lead to Purkinje cell loss, neurodegeneration and ataxia. | Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner.
Duarri A, Lin MC, Fokkens MR, Meijer M, Smeets CJ, Nibbeling EA, Boddeke E, Sinke RJ, Kampinga HH, Papazian DM, Verbeek DS., Free PMC Article | 10/31/2015 |
| the interaction of DPP10a, expressed in human atrium, with Kv4.3 channels generates a sustained current component of Ito, which may affect late repolarization phase of atrial action potentials. | Interaction of DPP10a with Kv4.3 channel complex results in a sustained current component of human transient outward current Ito.
Turnow K, Metzner K, Cotella D, Morales MJ, Schaefer M, Christ T, Ravens U, Wettwer E, Kämmerer S. | 09/26/2015 |
| Kv4.3 K(+) channel is involved in heart hypertrophy/heart failure independently of its electric function.[review] | The potential role of Kv4.3 K+ channel in heart hypertrophy.
Huo R, Sheng Y, Guo WT, Dong DL., Free PMC Article | 06/20/2015 |
| Demonstrate SEMA3A as a naturally occurring protein that selectively inhibits Kv4.3 and SEMA3A as a possible Brugada syndrome susceptibility gene through a Kv4.3 gain-of-function mechanism. | Characterization of SEMA3A-encoded semaphorin as a naturally occurring Kv4.3 protein inhibitor and its contribution to Brugada syndrome.
Boczek NJ, Ye D, Johnson EK, Wang W, Crotti L, Tester DJ, Dagradi F, Mizusawa Y, Torchio M, Alders M, Giudicessi JR, Wilde AA, Schwartz PJ, Nerbonne JM, Ackerman MJ., Free PMC Article | 02/14/2015 |
| maps to chromosome 1p21-q21 and identification in Dutch autosomal dominant cerebellar ataxia family | Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.
Verbeek DS, Schelhaas JH, Ippel EF, Beemer FA, Pearson PL, Sinke RJ. | 10/30/2014 |
| These results indicate that Kv4.3 is likely the target of discrepin and highlight the importance of the basic residue K13, located in the alpha-helix of the toxin, for current blockage. | Interaction of the scorpion toxin discrepin with Kv4.3 channels and A-type K(+) channels in cerebellum granular cells.
Picco C, Corzo G, Possani LD, Prestipino G. | 10/4/2014 |
| findings indicate mutations in KCND3 are not a common cause of disease among rarer types of European cerebellar ataxia; however 2 variants were identified in the SCA cases: p.L450F and p.P614S; mutations in KCND3 can cause 2 allelic disorders, SCA19/22 and Brugada syndrome which may co-occur | The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together.
Duarri A, Nibbeling E, Fokkens MR, Meijer M, Boddeke E, Lagrange E, Stevanin G, Brice A, Durr A, Verbeek DS. | 07/26/2014 |
| Report a KV4.3 gain-of-function mutation in early-onset persistent lone atrial fibrillation. | A novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation.
Olesen MS, Refsgaard L, Holst AG, Larsen AP, Grubb S, Haunsø S, Svendsen JH, Olesen SP, Schmitt N, Calloe K. | 01/4/2014 |
| expression of the sodium (SCN5A) and potassium (KCND3) channels as well as the fibrosis content in the ventricles of heart failure and of non-diseased hearts under different post-mortem intervals | Analysis of the arrhythmogenic substrate in human heart failure.
Partemi S, Batlle M, Berne P, Berruezo A, Campos B, Mont L, Riuró H, Roig E, Pérez-Villa F, Ortiz J, Pascali VL, Oliva A, Brugada R, Brugada J. | 09/7/2013 |
| The biophysical characteristics of Kv4.3 channels are strongly dependent on temperature. | Accessory subunits alter the temperature sensitivity of Kv4.3 channel complexes.
Radicke S, Riedel T, Cotella D, Turnow K, Ravens U, Schaefer M, Wettwer E. | 07/27/2013 |
| This study demonistrated that KCND3 mutations cause SCA19 by impaired protein maturation and/or reduced channel function | Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.
Duarri A, Jezierska J, Fokkens M, Meijer M, Schelhaas HJ, den Dunnen WF, van Dijk F, Verschuuren-Bemelmans C, Hageman G, van de Vlies P, Küsters B, van de Warrenburg BP, Kremer B, Wijmenga C, Sinke RJ, Swertz MA, Kampinga HH, Boddeke E, Verbeek DS. | 03/2/2013 |
| This study demonistrated that Mutations in KCND3 cause spinocerebellar ataxia type 22 in chinese and japanese. | Mutations in KCND3 cause spinocerebellar ataxia type 22.
Lee YC, Durr A, Majczenko K, Huang YH, Liu YC, Lien CC, Tsai PC, Ichikawa Y, Goto J, Monin ML, Li JZ, Chung MY, Mundwiller E, Shakkottai V, Liu TT, Tesson C, Lu YC, Brice A, Tsuji S, Burmeister M, Stevanin G, Soong BW., Free PMC Article | 03/2/2013 |
| KCND3 may serve as a rare genetic substrate in the pathogenesis of autopsy-negative sudden unexplained death (SUD) but not sudden infant death syndrome (SIDS) cases. | Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death.
Giudicessi JR, Ye D, Kritzberger CJ, Nesterenko VV, Tester DJ, Antzelevitch C, Ackerman MJ., Free PMC Article | 09/8/2012 |
| Human atrial I(to) and cloned hKv4.3 channels are modulated by EGFR kinase via phosphorylation of the Y136 residue and by Src-family kinases via phosphorylation of the Y108 residue. | Modulation of human cardiac transient outward potassium current by EGFR tyrosine kinase and Src-family kinases.
Zhang YH, Wu W, Sun HY, Deng XL, Cheng LC, Li X, Tse HF, Lau CP, Li GR. | 06/16/2012 |
| Deep insights into the mechanism of the regulation of Kv4.3 K channels and the role of Kv4.3 K channels in cell death. | Large T-antigen up-regulates Kv4.3 K⁺ channels through Sp1, and Kv4.3 K⁺ channels contribute to cell apoptosis and necrosis through activation of calcium/calmodulin-dependent protein kinase II.
Li Q, Zhang Y, Sheng Y, Huo R, Sun B, Teng X, Li N, Zhu JX, Yang BF, Dong DL. | 03/17/2012 |