| A novel gain-of-function sodium channel beta2 subunit mutation in idiopathic small fiber neuropathy. | A novel gain-of-function sodium channel β2 subunit mutation in idiopathic small fiber neuropathy.
Alsaloum M, Labau JIR, Sosniak D, Zhao P, Almomani R, Gerrits M, Hoeijmakers JGJ, Lauria G, Faber CG, Waxman SG, Dib-Hajj S., Free PMC Article | 01/29/2022 |
| this study reports the cryo-electron microscopy structures of the human Nav1.7-beta1-beta2 complex bound to two combinations of pore blockers and gating modifier toxins (GMTs), tetrodotoxin with protoxin-II and saxitoxin with huwentoxin-IV, both determined at overall resolutions of 3.2 angstroms. | Structures of human Na(v)1.7 channel in complex with auxiliary subunits and animal toxins.
Shen H, Liu D, Wu K, Lei J, Yan N. | 08/24/2019 |
| Findings add to the understanding of beta2 role in Nav 1.5 trafficking and localisation, which must influence cell excitability and electrical coupling in the heart. | Trafficking and localisation to the plasma membrane of Na(v) 1.5 promoted by the β2 subunit is defective due to a β2 mutation associated with Brugada syndrome.
Dulsat G, Palomeras S, Cortada E, Riuró H, Brugada R, Vergés M. | 05/5/2018 |
| The authors identified a flexible loop formed by (72)Cys and (75)Cys, a unique feature among the four beta-subunit isoforms. | Binary architecture of the Nav1.2-β2 signaling complex.
Das S, Gilchrist J, Bosmans F, Van Petegem F., Free PMC Article | 10/29/2016 |
| Contribution of Cardiac Sodium Channel beta-Subunit Variants to Brugada Syndrome. | Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome.
Peeters U, Scornik F, Riuró H, Pérez G, Komurcu-Bayrak E, Van Malderen S, Pappaert G, Tarradas A, Pagans S, Daneels D, Breckpot K, Brugada P, Bonduelle M, Brugada R, Van Dooren S. | 07/16/2016 |
| In a nonreferred nationwide Danish cohort of SIDS cases, up to 5/66 (7.5%) of SIDS cases can be explained by genetic variants in the sodium channel complex genes. | The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome.
Winkel BG, Yuan L, Olesen MS, Sadjadieh G, Wang Y, Risgaard B, Jabbari R, Haunsø S, Holst AG, Hollegaard MV, Tfelt-Hansen J, Jespersen T. | 03/12/2016 |
| With increased beta-2 expression, prostate cancer cells display a trend of enhanced association with nerve axons. | Identification of beta-2 as a key cell adhesion molecule in PCa cell neurotropic behavior: a novel ex vivo and biophysical approach.
Jansson KH, Castillo DG, Morris JW, Boggs ME, Czymmek KJ, Adams EL, Schramm LP, Sikes RA., Free PMC Article | 01/24/2015 |
| sodium channel polymorphisms are associated with epilepsy | Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy.
Baum L, Haerian BS, Ng HK, Wong VC, Ng PW, Lui CH, Sin NC, Zhang C, Tomlinson B, Wong GW, Tan HJ, Raymond AA, Mohamed Z, Kwan P. | 05/31/2014 |
| SCN2B is a new candidate gene associated with Brugada syndrome. | A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome.
Riuró H, Beltran-Alvarez P, Tarradas A, Selga E, Campuzano O, Vergés M, Pagans S, Iglesias A, Brugada J, Brugada P, Vázquez FM, Pérez GJ, Scornik FS, Brugada R. | 02/1/2014 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesSudden infant death syndrome-associated mutations in the sodium channel beta subunits.
Tan BH, Pundi KN, Van Norstrand DW, Valdivia CR, Tester DJ, Medeiros-Domingo A, Makielski JC, Ackerman MJ. Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation.
Watanabe H, Darbar D, Kaiser DW, Jiramongkolchai K, Chopra S, Donahue BS, Kannankeril PJ, Roden DM. | 12/2/2009 |
| beta2 is a PS/gamma-secretase substrate, gamma-secretase mediated cleavage of beta2-C-terminal fragment is required for cell-cell adhesion and migration of beta2-expressing cells | Presenilin/gamma-secretase-mediated cleavage of the voltage-gated sodium channel beta2-subunit regulates cell adhesion and migration.
Kim DY, Ingano LA, Carey BW, Pettingell WH, Kovacs DM. | 01/21/2010 |