Ryanodine receptor channelopathies

被引：0
作者：
Matthew J. Betzenhauser
Andrew R. Marks
机构：
[1] Columbia University College of Physicians and Surgeons,Departments of Physiology and Cellular Biophysics and Medicine, Clyde and Helen Wu Center for Molecular Cardiology
来源：
Pflügers Archiv - European Journal of Physiology | 2010年 / 460卷
关键词：
Ryanodine receptors; Calcium-induced calcium release; Muscle contraction; Arrhythmias; Mutation;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Ryanodine receptors (RyR) are intracellular Ca2+-permeable channels that provide the sarcoplasmic reticulum Ca2+ release required for skeletal and cardiac muscle contractions. RyR1 underlies skeletal muscle contraction, and RyR2 fulfills this role in cardiac muscle. Over the past 20 years, numerous mutations in both RyR isoforms have been identified and linked to skeletal and cardiac diseases. Malignant hyperthermia, central core disease, and catecholaminergic polymorphic ventricular tachycardia have been genetically linked to mutations in either RyR1 or RyR2. Thus, RyR channelopathies are both of interest because they cause significant human diseases and provide model systems that can be studied to elucidate important structure–function relationships of these ion channels.
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页码：467 / 480
页数：13
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  • [1] Amador FJ(2009)Crystal structure of type I ryanodine receptor amino-terminal beta-trefoil domain reveals a disease-associated mutation “hot spot” loop Proc Natl Acad Sci U S A 106 11040-11044
  • [2] Liu S(2009)A retrograde signal from RyR1 alters DHP receptor inactivation and limits window Ca2+ release in muscle fibers of Y522S RyR1 knock-in mice Proc Natl Acad Sci U S A 106 4531-4536
  • [3] Ishiyama N(2001)Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor J Gen Physiol 118 277-290
  • [4] Plevin MJ(2001)Excitation–contraction uncoupling by a human central core disease mutation in the ryanodine receptor Proc Natl Acad Sci U S A 98 4215-4220
  • [5] Wilson A(1999)Deletion of the ryanodine receptor type 3 (RyR3) impairs forms of synaptic plasticity and spatial learning EMBO J 18 5264-5273
  • [6] MacLennan DH(2001)Calmodulin binding and inhibition of cardiac muscle calcium release channel (ryanodine receptor) J Biol Chem 276 20144-20153
  • [7] Ikura M(2008)Stressed out: the skeletal muscle ryanodine receptor as a target of stress J Clin Invest 118 445-453
  • [8] Andronache Z(2009)Hypernitrosylated ryanodine receptor calcium release channels are leaky in dystrophic muscle Nat Med 15 325-330
  • [9] Hamilton SL(2008)Remodeling of ryanodine receptor complex causes “leaky” channels: a molecular mechanism for decreased exercise capacity Proc Natl Acad Sci U S A 105 2198-2202
  • [10] Dirksen RT(2000)The versatility and universality of calcium signalling Nat Rev Mol Cell Biol 1 11-21
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