Clinical and basic studies shed light on the mechanism, diagnosis, treatment of cardiac ryanodine receptor Ca 2+ release deficiency syndrome.

Introduction: A neurodevelopmental disorder, autism typically identified with three primary behavioral consequences, such as social impairment, communication problems and limited or stereotypical behavior. Because of its co-morbidity and lack of therapeutic options, autism is a global economic burden. A short chain of fatty acid, propionic acid formed biologically by gut microbiome. Propionic a...

Investigators from NIH, Hyperion Biotechnology Inc., and Hospital for Sick Children studied the effect of oral N-acetylcysteine (NAC) on decreasing oxidative stress increasing physical endurance in individuals with ryanodine receptor 1-related myopathies (RYR1-RM).

ryanodine receptor abnormalities has implicated in the generation and maintenance of seizure. dantrolene, a selective ryanodine receptor antagonist, may be a potential drug for the prevention of seizure. therefore, we aimed to clarify the protective effects of dantrolene against pentylenetetrazole seizure in mice. male albino mice were received an intra-peritoneal injection of pentylenetetrazol...

A high affinity [3H]ryanodine receptor has been solubilized from rabbit brain membranes and biochemically characterized. [3H]Ryanodine binding to rabbit brain membranes is specific and saturable, with a Kd of 1.3 nM. [3H]Ryanodine binding is enriched in membranes from the hippocampus but is significantly lower in membranes from the brain stem and spinal cord. Approximately 60% of [3H]ryanodine-...

The high affinity ryanodine receptor of the Ca2+ release channel from junctional sarcoplasmic reticulum of rabbit skeletal muscle has been identified and characterized using monoclonal antibodies. Anti-ryanodine receptor monoclonal antibody XA7 specifically immunoprecipitated [3H]ryanodine-labeled receptor from digitonin-solubilized triads in a dose-dependent manner. [3H]Ryanodine binding to th...

We have previously reported that injection of ryanodine receptor agonists into mature bovine oocytes induces intracellular calcium release, indicative of the existence of ryanodine receptors. In this experiment, further evidence of the ryanodine receptor localization, and developmental regulation in bovine oocytes is presented. The possible physiological significance is also suggested. Using a ...

The ryanodine receptor of rabbit skeletal muscle sarcoplasmic reticulum was purified by immunoaffinity chromatography as a single approximately 450,000-Da polypeptide and it was shown to mediate single channel activity identical to that of the ryanodine-treated Ca2+ release channel of the sarcoplasmic reticulum. The purified receptor had a [3H]ryanodine binding capacity (Bmax) of 280 pmol/mg an...