Ryanodine receptor type 1-related myopathies (RYR1 -RM) are the most common class of congenital myopathies. Historically, RYR1 -RM classification and diagnosis have been guided …

该论文在离子通道领域有两方面全新发现：（1）与一般认为离子通道的6次跨膜螺旋不同，发现ryanodinereceptor (RyR)/钙释放通道多一条跨膜螺旋，为7次跨膜螺旋，研究组将该螺旋命名 …

2024年7月12日 · Purpose of review: RYR1-related myopathy (RYR1-RM) is a group of myopathies caused by mutations in the RYR1 gene, which encodes the ryanodine receptor 1 …

RYR1-RM comprise the most common form of congenital myopathy, with a pediatric incidence of > 1:90,000 in the United States [21–23]. Common RYR1-RM clinical manifestations include …

The RYR1 gene (OMIM ∗180901) encodes the skeletal muscle ryanodine receptor (RyR1), which is the Ca 2+ release channel of the sarcoplasmic reticulum (SR). RyR1 and the voltage …

This broad range of RYR1-related disorders often presents to the general paediatric and adult neurologist. Its recognition is essential for genetic counselling and improving patients' safety …

RyR1-related myopathies are a family of genetic neuromuscular diseases due to mutations in the RYR1 gene. No treatment exists for any of these myopathies today, which could change in the …

研究发现，Ca 2+诱导RyR1构象的最大变化之一是周边区域的“聚集”运动，在Ca 2+诱导下，“钳制” 区和“把手” 区外缘产生约5 Å的向下旋转运动，引起中心区产生旋转并导致S4-S5连接螺旋 …

2024年11月18日 · RYR1 -related diseases affect skeletal muscle and are caused by changes (variants) in the RYR1 gene 1. RYR1 variants are the most common cause of muscle …

Ryanodine receptors (RyRs) are the largest ion channels presently known. They are very large (2.2 MDa) Ca channels that play a key role in excitation-contraction (EC) coupling [1, 2, 3, 4, …