2024年11月18日 · “RYR1-related diseases” is an umbrella term which covers a range of RYR1-related subtypes that affect the neuromuscular system in humans. Historically, individuals with RYR1-RM were diagnosed based on muscle biopsy features like central cores, rods and fiber type disproportion, though these are not unique to RYR1-RM and may change over time.

2024年12月25日 · RYR1 (Ryanodine Receptor 1) is a Protein Coding gene. Diseases associated with RYR1 include Malignant Hyperthermia 1 and King-Denborough Syndrome. Among its related pathways are Activation of cAMP-Dependent PKA and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include calcium ion binding and calmodulin binding.

Ryanodine receptor 1 (RYR-1) also known as skeletal muscle calcium release channel or skeletal muscle-type ryanodine receptor is one of a class of ryanodine receptors and a protein found primarily in skeletal muscle. In humans, it is encoded by the RYR1 gene. [5][6]

Ryanodine受体（RyR）是存在于 内质网 /肌浆网上（ER/SR）的一种钙释放通道。 它能迅速地将Ca2+从ER/SR中释放出来, 从而发挥一系列的 生理功能。 Ryanodine受体对保持胞内钙的平衡也起着重要作用。 RYR的活性受到多种物质的调控，诱导胞内 钙库 释放、升高胞内钙浓度、激发钙活化，对钙激活钾通道的开放、兴奋收缩耦连等多种生理功能的完成有重要意义。 RYR的活性受到许多 小分子 物质（如 [Ca2+]、 [Mg2+]、NO、 咖啡因 等）和一些 大分子物质 如 蛋白质 的调 …

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 by histopathologic findings on muscle biopsy.

The RYR1 gene provides instructions for making a protein called ryanodine receptor 1 (also called the RYR1 channel). Learn about this gene and related health conditions.

The RYR-1 Foundation is a non-profit, 501 (c) (3) public charity, which was started by members of the Goldberg Family, who have been affected by an RYR-1-related disease. Currently, there is no other organization that exists solely to advocate for and serve the needs of patients and families affected by RYR-1-Related Diseases (RYR-1-RD).

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). This review discusses recent advances in the clinical features, pathology, pathogenesis, and therapeutics of RYR1-RM.

2018年11月7日 · Here, we review histopathologic, clinical, imaging, and genetic diagnostic features of the main RYR1-RM subtypes. We also discuss the current state of treatments and focus on disease-modulating (nongenetic) therapeutic strategies under development for RYR1 …

The RyR1 receptor is a channel in muscle cells that regulate the flow of calcium, a critical component of muscle contraction. A reduced number and/or abnormal RyR1 channels lead to dysfunctional muscle contractions. There are a wide range of symptoms of RYR-1-RD, but they are typically either non-progressive or very slowly progressive.