Ueda et al, Trafficking-defective HCN4 mutation in cardiac arrhythmia - 1 - Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia Running title: Trafficking-defective HCN4 mutation in cardiac arrhythmia
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چکیده
1 Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia Running title: Trafficking-defective HCN4 mutation in cardiac arrhythmia Kazuo Ueda, Kazufumi Nakamura, Takeharu Hayashi, Natsuko Inagaki, Megumi Takahashi, Takuro Arimura, Hiroshi Morita, Yasushi Higashiuesato, Yuji Hirano, Michio Yasunami, Shuichi Takishita, Akira Yamashina, Tohru Ohe, Makoto Sunamori, Masayasu Hiraoka, and Akinori Kimura Department of Molecular Pathogenesis, Medical Research Institute, and Laboratory of Genome Diversity, School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan, Department of Cardiovascular Diseases, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan, Department of Thoracic and Cardiovascular Surgery, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan, Department of Cardiovascular Medicine, Okayama University, Graduate School of Medicine and Dentistry, Okayama, Japan, Second Department of Internal Medicine, Tokyo Medical University, Tokyo, Japan, Third Department of Internal Medicine, Faculty of Medicine, University of the Ryukyus, Okinawa, Japan
منابع مشابه
The HCN4 channel mutation D553N associated with bradycardia has a C-linker mediated gating defect.
BACKGROUND/AIMS The D553N mutation located in the C-linker of the cardiac pacemaker channel HCN4 is thought to cause sino-atrial dysfunction via a pronounced dominant-negative trafficking defect. Since HCN4 mutations usually have a minor defect in channel gating, it was our aim to further characterize the disease causing mechanism of D553N. METHODS Fluorescence microscopy, FACS, TEVC and patc...
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BACKGROUND The hyperpolarization-activated nucleotide-gated channel--HCN4 plays a major role in the diastolic depolarization of sinus atrial node cells. Mutant HCN4 channels have been found to be associated with inherited sinus bradycardia. METHODS AND RESULTS Sixteen members of a family with sinus bradycardia were evaluated. Evaluation included a clinical questionnaire, 12-lead ECGs, Holter ...
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Cardiac pacemaking involves a variety of ion channels, but their relative importance is controversial and remains to be determined. Hyperpolarization-activated, cyclic nucleotide-gated (HCN) channels, which underlie the I(f) current of sinoatrial cells, are thought to be key players in cardiac automaticity. In addition, the increase in heart rate following beta-adrenergic stimulation has been a...
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