کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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2838772 | 1165050 | 2012 | 14 صفحه PDF | دانلود رایگان |
The skeletal muscle ryanodine receptor isoform 1 (RyR1) is a calcium release channel involved in excitation–contraction coupling, the process whereby an action potential is translated to a cytoplasmic Ca2+ signal that activates muscle contraction. Dominant and recessive mutations in RYR1 cause a range of muscle disorders, including malignant hyperthermia and several forms of congenital myopathies. Many aspects of disease pathogenesis in ryanodinopathies remain uncertain, particularly for those myopathies due to recessive mutations. A thorough understanding of the ryanodine receptor macromolecular complex and its interactions with proteins and small molecular modulators is an essential starting point from which to investigate disease mechanisms.
Journal: - Volume 18, Issue 11, November 2012, Pages 644–657