کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
10766842 1050679 2008 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Distinct mechanisms for dysfunctions of mutated ryanodine receptor isoforms
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
Distinct mechanisms for dysfunctions of mutated ryanodine receptor isoforms
چکیده انگلیسی
Ryanodine receptor (RyR) is the Ca2+-induced Ca2+ release channel in cells. RyR1 and RyR2 are its isoforms expressed in the skeletal and cardiac muscles, respectively. Their missense mutations, which are clustered in three regions that correspond to each other, cause hereditary disorders such as malignant hyperthermia and central core disease in skeletal muscle and catecholaminergic polymorphic ventricular tachycardia in cardiac muscle. Their pathogeneses, however, are not well understood. The following hypotheses are favorably discussed in this article: phenotypes with RyR1 and RyR2 mutations are mainly caused by dysregulations of their functions through the interdomain interaction and luminal Ca2+, respectively.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Biochemical and Biophysical Research Communications - Volume 369, Issue 1, 25 April 2008, Pages 208-212
نویسندگان
,