دورية أكاديمية
Calmodulin Mutations in Human Disease
العنوان: | Calmodulin Mutations in Human Disease |
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المؤلفون: | John W. Hussey, Worawan B. Limpitikul, Ivy E. Dick |
المصدر: | Channels, Vol 17, Iss 1 (2023) |
بيانات النشر: | Taylor & Francis Group, 2023. |
سنة النشر: | 2023 |
المجموعة: | LCC:Therapeutics. Pharmacology LCC:Physiology |
مصطلحات موضوعية: | Calmodulin, calmodulinopathy, cardiac arrhythmia, channelopathy, long QT syndrome, Therapeutics. Pharmacology, RM1-950, Physiology, QP1-981 |
الوصف: | ABSTRACTCalcium ions (Ca2+) are the basis of a unique and potent array of cellular responses. Calmodulin (CaM) is a small but vital protein that is able to rapidly transmit information about changes in Ca2+ concentrations to its regulatory targets. CaM plays a critical role in cellular Ca2+ signaling, and interacts with a myriad of target proteins. Ca2+-dependent modulation by CaM is a major component of a diverse array of processes, ranging from gene expression in neurons to the shaping of the cardiac action potential in heart cells. Furthermore, the protein sequence of CaM is highly evolutionarily conserved, and identical CaM proteins are encoded by three independent genes (CALM1-3) in humans. Mutations within any of these three genes may lead to severe cardiac deficits including severe long QT syndrome (LQTS) and/or catecholaminergic polymorphic ventricular tachycardia (CPVT). Research into disease-associated CaM variants has identified several proteins modulated by CaM that are likely to underlie the pathogenesis of these calmodulinopathies, including the cardiac L-type Ca2+ channel (LTCC) CaV1.2, and the sarcoplasmic reticulum Ca2+ release channel, ryanodine receptor 2 (RyR2). Here, we review the research that has been done to identify calmodulinopathic CaM mutations and evaluate the mechanisms underlying their role in disease. |
نوع الوثيقة: | article |
وصف الملف: | electronic resource |
اللغة: | English |
تدمد: | 19336950 1933-6969 1933-6950 |
Relation: | https://doaj.org/toc/1933-6950; https://doaj.org/toc/1933-6969 |
DOI: | 10.1080/19336950.2023.2165278 |
URL الوصول: | https://doaj.org/article/415c6b1ab79d4274b179828b8d19c980 |
رقم الأكسشن: | edsdoj.415c6b1ab79d4274b179828b8d19c980 |
قاعدة البيانات: | Directory of Open Access Journals |
تدمد: | 19336950 19336969 |
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DOI: | 10.1080/19336950.2023.2165278 |