Cargando…
Visualizing Mutation-Specific Differences in the Trafficking-Deficient Phenotype of Kv11.1 Proteins Linked to Long QT Syndrome Type 2
KCNH2 encodes the Kv11.1 α-subunit that underlies the rapidly activating delayed-rectifier K(+) current in the heart. Loss-of-function KCNH2 mutations cause long QT syndrome type 2 (LQT2), and most LQT2-linked missense mutations inhibit the trafficking of Kv11.1 channel protein to the cell surface m...
Autores principales: | Hall, Allison R., Anderson, Corey L., Smith, Jennifer L., Mirshahi, Tooraj, Elayi, Claude S., January, Craig T., Delisle, Brian P. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974211/ https://www.ncbi.nlm.nih.gov/pubmed/29875689 http://dx.doi.org/10.3389/fphys.2018.00584 |
Ejemplares similares
-
Large-scale Mutational Analysis of Kv11.1 Reveals Molecular Insights into Type 2 Long QT Syndrome
por: Anderson, Corey L., et al.
Publicado: (2014) -
Mutation-Specific Differences in Kv7.1 (KCNQ1) and Kv11.1 (KCNH2) Channel Dysfunction and Long QT Syndrome Phenotypes
por: Kekenes-Huskey, Peter M., et al.
Publicado: (2022) -
Molecular pathogenesis of long QT syndrome type 2
por: Smith, Jennifer L., et al.
Publicado: (2016) -
Long QT Syndrome Type 2: Emerging Strategies for Correcting Class 2 KCNH2 (hERG) Mutations and Identifying New Patients
por: Ono, Makoto, et al.
Publicado: (2020) -
Cardiomyocyte Deletion of Bmal1 Exacerbates QT- and RR-Interval Prolongation in Scn5a(+/ΔKPQ) Mice
por: Schroder, Elizabeth A., et al.
Publicado: (2021)