HERG1 channelopathies.
HERG1 channelopathies.
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DOI：
10.1007/s00424-009-0758-8
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发表时间：
2010-07
影响因子：
4.5
通讯作者：
Sanguinetti, Michael C.
中科院分区：
文献类型：
--
作者：
Sanguinetti, Michael C.
关键词：
Human ether a go-go-related gene type 1 (hERG1) K+ channels conduct the rapid delayed rectifier K+ current and mediate action potential repolarization in the heart. Mutations in KCNH2 (the gene that encodes hERG1) causes LQT2, one of the most common forms of long QT syndrome, a disorder of cardiac repolarization that predisposes affected subjects to ventricular arrhythmia and increases the risk of sudden cardiac death. Hundreds of LQT2-associated mutations have been described, and most cause a loss of function by disrupting subunit folding, assembly, or trafficking of the channel to the cell surface. Loss-of-function mutations in hERG1 channels have also recently been implicated in epilepsy. A single gain-of-function mutation has been described that causes short QT syndrome and cardiac arrhythmia. In addition, up-regulation of hERG1 channel expression has been demonstrated in specific tumors and has been associated with skeletal muscle atrophy in mice.
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影响因子：
8.8
作者：
Cherubini, A;Taddei, GL;Crociani, O;Paglierani, M;Buccoliero, AM;Fontana, L;Noci, I;Borri, P;Borrani, E;Giachi, M;Becchetti, A;Rosati, B;Wanke, E;Olivotto, M;Arcangeli, A
通讯作者：
Arcangeli, A
影响因子：
4.8
作者：
Ficker, E;Obejero-Paz, CA;Brown, AM
通讯作者：
Brown, AM
影响因子：
37.8
作者：
Anderson, CL;Delisle, BP;January, CT
通讯作者：
January, CT
影响因子：
64.5
作者：
Cabral, JHM;Lee, A;Mackinnon, R
通讯作者：
Mackinnon, R
影响因子：
3.3
作者：
Cherubini, A;Hofmann, G;Arcangeli, A
通讯作者：
Arcangeli, A