Ryanodine receptor channelopathies
MJ Betzenhauser, AR Marks - Pflügers Archiv-European Journal of …, 2010 - Springer
Ryanodine receptors (RyR) are intracellular Ca 2+ -permeable channels that provide the
sarcoplasmic reticulum Ca 2+ release required for skeletal and cardiac muscle contractions. …
sarcoplasmic reticulum Ca 2+ release required for skeletal and cardiac muscle contractions. …
Linking structure to function: recent lessons from inositol 1, 4, 5-trisphosphate receptor mutagenesis
DI Yule, MJ Betzenhauser, SK Joseph - Cell calcium, 2010 - Elsevier
Great insight has been gained into the structure and function of the inositol 1,4,5 trisphosphate
receptor (InsP 3 R) by studies employing mutagenesis of the cDNA encoding the receptor…
receptor (InsP 3 R) by studies employing mutagenesis of the cDNA encoding the receptor…
[PDF][PDF] Ryanodine receptor oxidation causes intracellular calcium leak and muscle weakness in aging
DC Andersson, MJ Betzenhauser, S Reiken, AC Meli… - Cell metabolism, 2011 - cell.com
Age-related loss of muscle mass and force (sarcopenia) contributes to disability and increased
mortality. Ryanodine receptor 1 (RyR1) is the skeletal muscle sarcoplasmic reticulum …
mortality. Ryanodine receptor 1 (RyR1) is the skeletal muscle sarcoplasmic reticulum …
[HTML][HTML] Role of chronic ryanodine receptor phosphorylation in heart failure and β-adrenergic receptor blockade in mice
J Shan, MJ Betzenhauser, A Kushnir… - The Journal of …, 2010 - Am Soc Clin Investig
Increased sarcoplasmic reticulum (SR) Ca 2+ leak via the cardiac ryanodine receptor/calcium
release channel (RyR2) is thought to play a role in heart failure (HF) progression. …
release channel (RyR2) is thought to play a role in heart failure (HF) progression. …
Mutations in SCN10A Are Responsible for a Large Fraction of Cases of Brugada Syndrome
…, F Dezi, J Pfeiffer, T Buch, MJ Betzenhauser… - Journal of the American …, 2014 - jacc.org
Background : BrS is an inherited sudden cardiac death syndrome. Less than 35% of BrS
probands have genetically identified pathogenic variants. Recent evidence has implicated …
probands have genetically identified pathogenic variants. Recent evidence has implicated …
[HTML][HTML] Phosphorylation of the ryanodine receptor mediates the cardiac fight or flight response in mice
J Shan, A Kushnir, MJ Betzenhauser… - The Journal of …, 2010 - Am Soc Clin Investig
During the classic “fight-or-flight” stress response, sympathetic nervous system activation
leads to catecholamine release, which increases heart rate and contractility, resulting in …
leads to catecholamine release, which increases heart rate and contractility, resulting in …
[HTML][HTML] Role of leaky neuronal ryanodine receptors in stress-induced cognitive dysfunction
The type 2 ryanodine receptor/calcium release channel (RyR2), required for excitation-contraction
coupling in the heart, is abundant in the brain. Chronic stress induces catecholamine …
coupling in the heart, is abundant in the brain. Chronic stress induces catecholamine …
[HTML][HTML] Ryanodine receptor studies using genetically engineered mice
A Kushnir, MJ Betzenhauser, AR Marks - FEBS letters, 2010 - Elsevier
Ryanodine receptors (RyR) regulate intracellular Ca 2+ release in many cell types and
have been implicated in a number of inherited human diseases. Over the past 15years …
have been implicated in a number of inherited human diseases. Over the past 15years …
Role of CaMKIIδ phosphorylation of the cardiac ryanodine receptor in the force frequency relationship and heart failure
A Kushnir, J Shan, MJ Betzenhauser… - Proceedings of the …, 2010 - National Acad Sciences
The force frequency relationship (FFR), first described by Bowditch 139 years ago as the
observation that myocardial contractility increases proportionally with increasing heart rate, is …
observation that myocardial contractility increases proportionally with increasing heart rate, is …
[HTML][HTML] Leaky ryanodine receptors in β-sarcoglycan deficient mice: a potential common defect in muscular dystrophy
DC Andersson, AC Meli, S Reiken, MJ Betzenhauser… - Skeletal muscle, 2012 - Springer
Background Disruption of the sarcolemma-associated dystrophin-glycoprotein complex
underlies multiple forms of muscular dystrophy, including Duchenne muscular dystrophy and …
underlies multiple forms of muscular dystrophy, including Duchenne muscular dystrophy and …