BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

133 related articles for article (PubMed ID: 9714564)

  • 1. Characterization of three episodic ataxia mutations in the human Kv1.1 potassium channel.
    Zerr P; Adelman JP; Maylie J
    FEBS Lett; 1998 Jul; 431(3):461-4. PubMed ID: 9714564
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Episodic ataxia results from voltage-dependent potassium channels with altered functions.
    Adelman JP; Bond CT; Pessia M; Maylie J
    Neuron; 1995 Dec; 15(6):1449-54. PubMed ID: 8845167
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Episodic ataxia/myokymia mutations functionally expressed in the Shaker potassium channel.
    Boland LM; Price DL; Jackson KA
    Neuroscience; 1999; 91(4):1557-64. PubMed ID: 10391459
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency.
    Zerr P; Adelman JP; Maylie J
    J Neurosci; 1998 Apr; 18(8):2842-8. PubMed ID: 9526001
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel.
    D'Adamo MC; Liu Z; Adelman JP; Maylie J; Pessia M
    EMBO J; 1998 Mar; 17(5):1200-7. PubMed ID: 9482717
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Episodic ataxia type 1 mutations in the human Kv1.1 potassium channel alter hKvbeta 1-induced N-type inactivation.
    Maylie B; Bissonnette E; Virk M; Adelman JP; Maylie JG
    J Neurosci; 2002 Jun; 22(12):4786-93. PubMed ID: 12077175
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel.
    Zhao J; Petitjean D; Haddad GA; Batulan Z; Blunck R
    Int J Mol Sci; 2020 Oct; 21(20):. PubMed ID: 33066705
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Episodic ataxia type-1 mutations in the Kv1.1 potassium channel display distinct folding and intracellular trafficking properties.
    Manganas LN; Akhtar S; Antonucci DE; Campomanes CR; Dolly JO; Trimmer JS
    J Biol Chem; 2001 Dec; 276(52):49427-34. PubMed ID: 11679591
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Expression in mammalian cells and electrophysiological characterization of two mutant Kv1.1 channels causing episodic ataxia type 1 (EA-1).
    Bretschneider F; Wrisch A; Lehmann-Horn F; Grissmer S
    Eur J Neurosci; 1999 Jul; 11(7):2403-12. PubMed ID: 10383630
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels.
    Imbrici P; Cusimano A; D'Adamo MC; De Curtis A; Pessia M
    Pflugers Arch; 2003 Jun; 446(3):373-9. PubMed ID: 12799903
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2.
    Imbrici P; D'Adamo MC; Kullmann DM; Pessia M
    Eur J Neurosci; 2006 Dec; 24(11):3073-83. PubMed ID: 17156368
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Three novel KCNA1 mutations in episodic ataxia type I families.
    Scheffer H; Brunt ER; Mol GJ; van der Vlies P; Stulp RP; Verlind E; Mantel G; Averyanov YN; Hofstra RM; Buys CH
    Hum Genet; 1998 Apr; 102(4):464-6. PubMed ID: 9600245
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A Disease Mutation Causing Episodic Ataxia Type I in the S1 Links Directly to the Voltage Sensor and the Selectivity Filter in Kv Channels.
    Petitjean D; Kalstrup T; Zhao J; Blunck R
    J Neurosci; 2015 Sep; 35(35):12198-206. PubMed ID: 26338330
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions.
    Imbrici P; Altamura C; Gualandi F; Mangiatordi GF; Neri M; De Maria G; Ferlini A; Padovani A; D'Adamo MC; Nicolotti O; Pessia M; Conte D; Filosto M; Desaphy JF
    Mol Cell Neurosci; 2017 Sep; 83():6-12. PubMed ID: 28666963
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function.
    D'Adamo MC; Imbrici P; Sponcichetti F; Pessia M
    FASEB J; 1999 Aug; 13(11):1335-45. PubMed ID: 10428758
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.
    Zuberi SM; Eunson LH; Spauschus A; De Silva R; Tolmie J; Wood NW; McWilliam RC; Stephenson JB; Kullmann DM; Hanna MG
    Brain; 1999 May; 122 ( Pt 5)():817-25. PubMed ID: 10355668
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Separable effects of human Kvbeta1.2 N- and C-termini on inactivation and expression of human Kv1.4.
    Accili EA; Kuryshev YA; Wible BA; Brown AM
    J Physiol; 1998 Oct; 512 ( Pt 2)(Pt 2):325-36. PubMed ID: 9763623
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Functional consequences of P/Q-type Ca2+ channel Cav2.1 missense mutations associated with episodic ataxia type 2 and progressive ataxia.
    Wappl E; Koschak A; Poteser M; Sinnegger MJ; Walter D; Eberhart A; Groschner K; Glossmann H; Kraus RL; Grabner M; Striessnig J
    J Biol Chem; 2002 Mar; 277(9):6960-6. PubMed ID: 11742003
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The episodic ataxia type 1 mutation I262T alters voltage-dependent gating and disrupts protein biosynthesis of human Kv1.1 potassium channels.
    Chen SH; Fu SJ; Huang JJ; Tang CY
    Sci Rep; 2016 Jan; 6():19378. PubMed ID: 26778656
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain.
    Imbrici P; D'Adamo MC; Grottesi A; Biscarini A; Pessia M
    Am J Physiol Cell Physiol; 2011 Jun; 300(6):C1314-22. PubMed ID: 21307345
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.