کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2838772 1165050 2012 14 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Mapping domains and mutations on the skeletal muscle ryanodine receptor channel
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی پزشکی مولکولی
پیش نمایش صفحه اول مقاله
Mapping domains and mutations on the skeletal muscle ryanodine receptor channel
چکیده انگلیسی

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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: - Volume 18, Issue 11, November 2012, Pages 644–657
نویسندگان
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