2021
An epilepsy-causing mutation leads to co-translational misfolding of the Kv7.2 channel
Urrutia J, Aguado A, Gomis-Perez C, Muguruza-Montero A, Ballesteros OR, Zhang J, Nuñez E, Malo C, Chung HJ, Leonardo A, Bergara A, Villarroel A. An epilepsy-causing mutation leads to co-translational misfolding of the Kv7.2 channel. BMC Biology 2021, 19: 109. PMID: 34020651, PMCID: PMC8138981, DOI: 10.1186/s12915-021-01040-1.Peer-Reviewed Original ResearchConceptsKv7.2 channelsChannel functionSequences of proteinsNon-native configurationsNascent chainsProper foldingEpilepsy-causing mutationsIQ motifResponsive domainHuman diseasesHelix ANative conformationFolding routeIon channelsKCNQ2 geneMutationsNeuronal compartmentsFoldingMisfoldingProteinKey pathogenic mechanismsPathogenic variantsSilico studiesPathogenic mechanismsSide chains
2015
Uncoupling PIP2-calmodulin regulation of Kv7.2 channels by an assembly destabilizing epileptogenic mutation
Alberdi A, Gomis-Perez C, Bernardo-Seisdedos G, Alaimo A, Malo C, Aldaregia J, Lopez-Robles C, Areso P, Butz E, Wahl-Schott C, Villarroel A. Uncoupling PIP2-calmodulin regulation of Kv7.2 channels by an assembly destabilizing epileptogenic mutation. Journal Of Cell Science 2015, 128: 4014-4023. PMID: 26359296, DOI: 10.1242/jcs.176420.Peer-Reviewed Original ResearchAn unconventional calmodulin-anchoring site within the AB module of Kv7.2 channels
Gomis-Perez C, Alaimo A, Fernandez-Orth J, Alberdi A, Aivar-Mateo P, Bernardo-Seisdedos G, Malo C, Areso P, Felipe A, Villarroel A. An unconventional calmodulin-anchoring site within the AB module of Kv7.2 channels. Journal Of Cell Science 2015, 128: 3155-3163. PMID: 26148514, DOI: 10.1242/jcs.174128.Peer-Reviewed Original Research
2012
Cooperativity between calmodulin-binding sites in Kv7.2 channels
Alaimo A, Alberdi A, Gomis-Perez C, Fernández-Orth J, Gómez-Posada JC, Areso P, Villarroel A. Cooperativity between calmodulin-binding sites in Kv7.2 channels. Journal Of Cell Science 2012, 126: 244-253. PMID: 23203804, DOI: 10.1242/jcs.114082.Peer-Reviewed Original Research