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Characterization of the novel mutant A78T-HERG from a long QT syndrome type 2 patient: Instability of the mutant protein and stabilization by heat shock factor 1

BACKGROUND: The human ether-a-go-go-related gene (HERG) encodes the α-subunit of rapidly activating delayed-rectifier potassium channels. Mutations in this gene cause long QT syndrome type 2 (LQT2). In most cases, mutations reduce the stability of the channel protein, which can be restored by heat s...

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Detalles Bibliográficos
Autores principales: Kondo, Takehito, Hisatome, Ichiro, Yoshimura, Shouichi, Mahati, Endang, Notsu, Tomomi, Li, Peili, Iitsuka, Kazuhiko, Kato, Masaru, Ogura, Kazuyoshi, Miake, Junichiro, Aiba, Takeshi, Shimizu, Wataru, Kurata, Yasutaka, Sakata, Shinji, Nakasone, Naoe, Ninomiya, Haruaki, Nakai, Akira, Higaki, Katsumi, Kawata, Yasushi, Shirayoshi, Yasuaki, Yoshida, Akio, Yamamoto, Kazuhiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5063263/
https://www.ncbi.nlm.nih.gov/pubmed/27761169
http://dx.doi.org/10.1016/j.joa.2015.10.005