Functional Characterization of a Trafficking-defective HCN4 Mutation, D553N, Associated with Cardiac Arrhythmia
نویسندگان
چکیده
منابع مشابه
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
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...
متن کاملThe 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...
متن کاملA copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase.
Copper dependency in humans is most dramatically illustrated in Menkes disease, an X linked recessive copper deficiency disorder that is generally lethal in early childhood. 2 Menkes disease is caused by mutations in a transmembrane copper transporting P type ATPase, MNK (or ATP7A), which is expressed in virtually all non-hepatic tissues. Studies using cultured cells suggest that MNK is located...
متن کاملNovel mechanism associated with an inherited cardiac arrhythmia: defective protein trafficking by the mutant HERG (G601S) potassium channel.
BACKGROUND The congenital long-QT syndrome (LQTS) is an inherited disorder characterized by a prolonged cardiac action potential and a QT interval that leads to arrhythmia. Mutations in the human ether-a-go-go-related gene (HERG), which encodes the rapidly activating component of the delayed rectifier current (IKr), cause chromosome 7-linked LQTS (LQT2). Studies of mutant HERG channels in heter...
متن کاملPoint mutation in the HCN4 cardiac ion channel pore affecting synthesis, trafficking, and functional expression is associated with familial asymptomatic sinus bradycardia.
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 ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 2004
ISSN: 0021-9258
DOI: 10.1074/jbc.m311953200