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Items: 1 to 20 of 128

1.

Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.

Lee H, Lin MC, Kornblum HI, Papazian DM, Nelson SF.

Hum Mol Genet. 2014 Jul 1;23(13):3481-9. doi: 10.1093/hmg/ddu056. Epub 2014 Feb 5.

2.

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.

Baasch AL, Hüning I, Gilissen C, Klepper J, Veltman JA, Gillessen-Kaesbach G, Hoischen A, Lohmann K.

Epilepsia. 2014 Apr;55(4):e25-9. doi: 10.1111/epi.12554. Epub 2014 Mar 1. Review.

3.
4.

S-glutathionylation of an auxiliary subunit confers redox sensitivity to Kv4 channel inactivation.

Jerng HH, Pfaffinger PJ.

PLoS One. 2014 Mar 27;9(3):e93315. doi: 10.1371/journal.pone.0093315. eCollection 2014.

5.

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.

Ann Neurol. 2012 Dec;72(6):870-80. doi: 10.1002/ana.23700.

PMID:
23280838
6.

Elimination of fast inactivation in Kv4 A-type potassium channels by an auxiliary subunit domain.

Holmqvist MH, Cao J, Hernandez-Pineda R, Jacobson MD, Carroll KI, Sung MA, Betty M, Ge P, Gilbride KJ, Brown ME, Jurman ME, Lawson D, Silos-Santiago I, Xie Y, Covarrubias M, Rhodes KJ, Distefano PS, An WF.

Proc Natl Acad Sci U S A. 2002 Jan 22;99(2):1035-40.

7.

Functional properties of a brain-specific NH2-terminally spliced modulator of Kv4 channels.

Boland LM, Jiang M, Lee SY, Fahrenkrug SC, Harnett MT, O'Grady SM.

Am J Physiol Cell Physiol. 2003 Jul;285(1):C161-70. Epub 2003 Mar 19.

8.

Gating charge immobilization in Kv4.2 channels: the basis of closed-state inactivation.

Dougherty K, De Santiago-Castillo JA, Covarrubias M.

J Gen Physiol. 2008 Mar;131(3):257-73. doi: 10.1085/jgp.200709938.

9.

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.

Veeramah KR, Johnstone L, Karafet TM, Wolf D, Sprissler R, Salogiannis J, Barth-Maron A, Greenberg ME, Stuhlmann T, Weinert S, Jentsch TJ, Pazzi M, Restifo LL, Talwar D, Erickson RP, Hammer MF.

Epilepsia. 2013 Jul;54(7):1270-81. doi: 10.1111/epi.12201. Epub 2013 May 3.

10.

Inhibitory effects of polyunsaturated fatty acids on Kv4/KChIP potassium channels.

Boland LM, Drzewiecki MM, Timoney G, Casey E.

Am J Physiol Cell Physiol. 2009 May;296(5):C1003-14. doi: 10.1152/ajpcell.00474.2008. Epub 2009 Mar 4.

11.

Kinetic analysis of open- and closed-state inactivation transitions in human Kv4.2 A-type potassium channels.

Bähring R, Boland LM, Varghese A, Gebauer M, Pongs O.

J Physiol. 2001 Aug 15;535(Pt 1):65-81.

12.
13.

KCNE3 is an inhibitory subunit of the Kv4.3 potassium channel.

Lundby A, Olesen SP.

Biochem Biophys Res Commun. 2006 Aug 4;346(3):958-67. Epub 2006 Jun 9.

PMID:
16782062
14.

The prion protein modulates A-type K+ currents mediated by Kv4.2 complexes through dipeptidyl aminopeptidase-like protein 6.

Mercer RC, Ma L, Watts JC, Strome R, Wohlgemuth S, Yang J, Cashman NR, Coulthart MB, Schmitt-Ulms G, Jhamandas JH, Westaway D.

J Biol Chem. 2013 Dec 27;288(52):37241-55. doi: 10.1074/jbc.M113.488650. Epub 2013 Nov 13.

15.

Auxiliary KChIP4a suppresses A-type K+ current through endoplasmic reticulum (ER) retention and promoting closed-state inactivation of Kv4 channels.

Tang YQ, Liang P, Zhou J, Lu Y, Lei L, Bian X, Wang K.

J Biol Chem. 2013 May 24;288(21):14727-41. doi: 10.1074/jbc.M113.466052. Epub 2013 Apr 10.

16.

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.

Cardiovasc Res. 2013 Jun 1;98(3):488-95. doi: 10.1093/cvr/cvt028. Epub 2013 Feb 11.

17.

Regulation of Kv4.3 closed state inactivation and recovery by extracellular potassium and intracellular KChIP2b.

Amadi CC, Brust RD, Skerritt MR, Campbell DL.

Channels (Austin). 2007 Jul-Aug;1(4):305-14. Epub 2007 Sep 10.

PMID:
18708742
18.

Multiprotein assembly of Kv4.2, KChIP3 and DPP10 produces ternary channel complexes with ISA-like properties.

Jerng HH, Kunjilwar K, Pfaffinger PJ.

J Physiol. 2005 Nov 1;568(Pt 3):767-88. Epub 2005 Aug 25.

19.

De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW.

Nature. 2012 Apr 4;485(7397):237-41. doi: 10.1038/nature10945.

20.

The neuronal Kv4 channel complex.

Covarrubias M, Bhattacharji A, De Santiago-Castillo JA, Dougherty K, Kaulin YA, Na-Phuket TR, Wang G.

Neurochem Res. 2008 Aug;33(8):1558-67. doi: 10.1007/s11064-008-9650-8. Epub 2008 Mar 21. Review.

PMID:
18357523
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