The DOI matches its Crossref record; 32 of the 32 references it cites were found in a registry or an index.
HERG Channel Dysfunction in Human Long QT Syndrome
Open accessAbstract
Mutations in HERG are associated with human chromosome 7-linked congenital long QT (LQT-2) syndrome. We used electrophysiological, biochemical, and immunohistochemical methods to study the molecular mechanisms of HERG channel dysfunction caused by LQT-2 mutations. Wild type HERG and LQT-2 mutations were studied by stable and transient expression in HEK 293 cells. We found that some mutations (Y611H and V822M) caused defects in biosynthetic processing of HERG channels with the protein retained in the endoplasmic reticulum. Other mutations (I593R and G628S) were processed similarly to wild type HERG protein, but these mutations did not produce functional channels. In contrast, the T474I mutation expressed HERG current but with altered gating properties. These findings suggest that the loss of HERG channel function in LQT-2 mutations is caused by multiple mechanisms including abnormal channel processing, the generation of nonfunctional channels, and altered channel gating.
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Cites
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A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
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HERG, a Human Inward Rectifier in the Voltage-Gated Potassium Channel Family
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Cited by
Spectrum of Mutations in Long-QT Syndrome Genes: KVLQT1 , HERG , SCN5A , KCNE1 , and KCNE2
Splawski, I., Shen, J., Timothy, K. W., Lehmann, M. H., Priori, S., Robinson, J. L., Moss, A. J., Schwartz, P. J., Towbin, J. A., Vincent, G. M., et al. (2000) · Circulation · doi:10.1161/01.cir.102.10.1178 · Cited by 1,231
Ma, J., Guo, L., Fiene, S. J., Anson, B. D., Thomson, J. A., Kamp, T. J., Kolaja, K. L., Swanson, B. J., & January, C. T. (2011) · American Journal of Physiology-Heart and Circulatory Physiology · doi:10.1152/ajpheart.00694.2011 · Cited by 770
Self-citationhERG K+Channels: Structure, Function, and Clinical Significance
Vandenberg, J. I., Perry, M. D., Perrin, M. J., Mann, S. A., Ke, Y., & Hill, A. P. (2012) · Physiological Reviews · doi:10.1152/physrev.00036.2011 · Cited by 696
Pharmacology of cardiac potassium channels
Tamargo, J. (2004) · Cardiovascular Research · doi:10.1016/j.cardiores.2003.12.026 · Cited by 466
Most LQT2 Mutations Reduce Kv11.1 (hERG) Current by a Class 2 (Trafficking-Deficient) Mechanism
Anderson, C. L., Delisle, B. P., Anson, B. D., Kilby, J. A., Will, M. L., Tester, D. J., Gong, Q., Zhou, Z., Ackerman, M. J., & January, C. T. (2006) · Circulation · doi:10.1161/circulationaha.105.570200 · Cited by 408
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Metadata
- Authors
- Zhou, Z., Gong, Q., Epstein, M. L., & January, C. T.
- Venue
- Journal of Biological Chemistry
- Publisher
- Elsevier BV
- Published
- 1998-08
- Volume
- 273
- Issue
- 33
- Pages
- 21061-21066
- ISSN
- 0021-9258 (ISSN-L)
- OpenAlex
- W1963890550
- Cited by
- 383
- References
- 32
- FWCI
- 15.34
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Zhou, Z., Gong, Q., Epstein, M. L., & January, C. T. (1998). HERG Channel Dysfunction in Human Long QT Syndrome. Journal of Biological Chemistry. https://doi.org/10.1074/jbc.273.33.21061
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.