Review
Biochemistry & Molecular Biology
Oscar Brenes, Michael Pusch, Fernando Morales
Summary: Myotonia congenita is a hereditary muscle disease caused by mutations in the CLCN1 gene, leading to abnormal function of the chloride ion channel and resulting in muscle hyperexcitability and other symptoms. This review examines over 350 reported mutations and analyzes their effects on the structure and function of the chloride ion channel.
Article
Cardiac & Cardiovascular Systems
Jinhong Wei, Wenting Guo, Ruiwu Wang, John Paul Estillore, Darrell Belke, Yong-Xiang Chen, Alexander Vallmitjana, Raul Benitez, Leif Hove-Madsen, S. R. Wayne Chen
Summary: The physiological significance of PKA phosphorylation of RyR2 in the heart is still poorly understood. Recent structural studies have shown that the PKA phosphorylation site S2030 in RyR2 is located within a pathway that is important for the termination of Ca2+ release. We investigated the impact of S2030 mutations on Ca2+ release termination in cells and generated a mouse model to study the role of S2030 in a physiological setting.
CIRCULATION RESEARCH
(2023)
Article
Agronomy
Wenjuan Mei, Yayun Zuo, Ting Su, Jing Yuan, Yidong Wu, Yihua Yang
Summary: A study identified a population of Spodoptera litura in Fujian province, China that showed resistance to diamide insecticides. Genetic analysis revealed that this resistance is associated with a ryanodine receptor mutation called I4728M. This finding is important for developing resistance monitoring tools and guiding resistance management practices.
PEST MANAGEMENT SCIENCE
(2023)
Article
Multidisciplinary Sciences
Nadege Zanou, Haikel Dridi, Steven Reiken, Tanes Imamura de Lima, Chris Donnelly, Umberto De Marchi, Manuele Ferrini, Jeremy Vidal, Leah Sittenfeld, Jerome N. Feige, Pablo M. Garcia-Roves, Isabel C. Lopez-Mejia, Andrew R. Marks, Johan Auwerx, Bengt Kayser, Nicolas Place
Summary: Exercise-induced transient calcium leak through RyR1 causes mitochondrial remodeling to improve respiration.
NATURE COMMUNICATIONS
(2021)
Article
Cardiac & Cardiovascular Systems
Liheng Yin, Alexandra Zahradnikova, Riccardo Rizzetto, Simona Boncompagni, Camille Rabesahala de Meritens, Yadan Zhang, Pierre Joanne, Elena Marques-Sule, Yuriana Aguilar-Sanchez, Miguel Fernandez-Tenorio, Olivier Villejoubert, Linwei Li, Yue Yi Wang, Philippe Mateo, Valerie Nicolas, Pascale Gerbaud, F. Anthony Lai, Romain Perrier, Julio L. Alvarez, Ernst Niggli, Hector H. Valdivia, Carmen R. Valdivia, Josefina Ramos-Franco, Esther Zorio, Spyros Zissimopoulos, Feliciano Protasi, Jean-Pierre Benitah, Ana M. Gomez
Summary: The study found that patients with catecholaminergic polymorphic ventricular tachycardia and knockout mice experienced ventricular tachycardia under stress conditions. The mutation RyR2(R420Q) may lead to increased Ca2+ waves and delayed afterdepolarizations in cardiomyocytes. Additionally, the mutation weakens the channel's interaction with JPH2, potentially causing channel dysfunction.
CIRCULATION RESEARCH
(2021)
Article
Pharmacology & Pharmacy
Chris Lindsay, Maria Musgaard, Angela J. Russell, Rebecca Sitsapesan
Summary: This study found that all the statins examined could activate RyR1, and cerivastatin was the most potent in activating RyR1, supporting the hypothesis that RyR1 activation is implicated in statin-induced myopathy. Several statin analogues were identified that retained HMG-CoA reductase inhibition but lacked the ability to modulate RyR1.
BRITISH JOURNAL OF PHARMACOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Jing-Mei Huang, Yun-Xia Zhao, Hao Sun, Huan Ni, Chong Liu, Xin Wang, Cong-Fen Gao, Shun-Fan Wu
Summary: The beet armyworm, commonly found in crops like cotton and soybean, has developed resistance to several insecticides, with some populations showing high levels of resistance to chlorantraniliprole and cross-resistance to tetraniliprole. However, methoxyfenozide and chlorfenapyr remain effective against this pest.
PESTICIDE BIOCHEMISTRY AND PHYSIOLOGY
(2021)
Article
Pharmacology & Pharmacy
Jenna R. Gale, Gabrielle J. Kosobucki, Karen A. Hartnett-Scott, Elias Aizenman
Summary: NMDA antagonist memantine effectively blocks dendrotoxicity mediated by GluN2A-P552R, while ketamine does not. The differences between these drugs in treating GRIN2A-mediated neurological disorders suggest that not all NMDA antagonists may have equal clinical utility despite a shared mechanism of action.
FRONTIERS IN PHARMACOLOGY
(2021)
Article
Immunology
Timothy F. Walseth, Andreas H. Guse
Summary: Nicotinic acid adenine dinucleotide 2'-phosphate (NAADP) is a naturally occurring nucleotide that has been shown to be involved in the release of Ca2+ from intracellular stores. The identity of the NAADP receptor remains unknown, but recent studies have identified HN1L/JPT2 as a high affinity NAADP binding protein that is essential for modulating Ca2+ channels. This suggests that NAADP may act as a trigger for Ca2+ signaling in cells.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Marta Gaburjakova, Jana Gaburjakova, Eva Krejciova, Daniel Kosnac, Helena Kosnacova, Stefan Nagy, Stefan Polak, Michal Sabo, Michal Trnka, Martin Kopani
Summary: Iron, essential for most living organisms, is involved in various physiological processes. Disruption in iron homeostasis can lead to pathologies, especially in the heart and brain. Research shows that ferritin can block the RYR2 channel through a direct electrostatic interaction.
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS
(2021)
Article
Cardiac & Cardiovascular Systems
Ruben Lopez, Radoslav Janicek, Miguel Fernandez-Tenorio, Marianne Courtehoux, Lluis Matas, Pascale Gerbaud, Ana M. Gomez, Marcel Egger, Ernst Niggli
Summary: This study found that beta-adrenergic receptor (β-AR) activation and stimulation of SR Ca2+ pump (SERCA) can lead to higher frequencies of Ca2+ waves in cardiomyocytes with the RyR2R420Q+/- mutation. The phosphorylation of RyR2s and the resulting SR Ca2+ leak may play a role in this phenomenon.
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
(2022)
Article
Agronomy
Yu Sun, Si-Tong Liu, Yan Ling, Li Wang, Huan Ni, Di Guo, Bei-Bei Dong, Qian Huang, Li-Ping Long, Shuai Zhang, Shun-Fan Wu, Cong-Fen Gao
Summary: The rice leaffolder, Cnaphalocrocis medinalis, has become a common pest in Asia and has developed resistance to multiple insecticides. The study identified high levels of resistance to chlorantraniliprole and identified the main resistance mechanism to be RyR mutations.
PEST MANAGEMENT SCIENCE
(2023)
Article
Biochemistry & Molecular Biology
Changhee Han, Md-Mafizur Rahman, Jiyeong Shin, Ju Hyeon Kim, Si Hyeock Lee, Min Kwon, Alicia E. Timm, Srinivasan Ramasamy, Youngsu Lee, Sera Kang, Suhyeong Park, Juil Kim
Summary: Since 2007, diamide insecticides have been widely used in Korea to control lepidopteran pests, but resistance to these insecticides has emerged in Spodoptera exigua populations. A mutation in the ryanodine receptor (RyR) was found in most field populations, but variations in resistance levels suggested the presence of other resistance factors. Further analysis showed that the high level of diamide resistance in Korean S. exigua is not caused by mutations at the target site, RyR, but is attributed to other factors that need to be investigated in future studies.
PESTICIDE BIOCHEMISTRY AND PHYSIOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Umut Toprak, Cansu Dogan, Dwayne Hegedus
Summary: This review focuses on the role of two Ca2+ channel receptors in insect cells, IP3R and RyR, which share similarities in structure and function but differ in phylogenetic origins. Both receptors have great potential as target sites in pest control, with RyRs currently being targeted by commercial insecticides.
Review
Pharmacology & Pharmacy
Hadiatullah Hadiatullah, Zhao He, Zhiguang Yuchi
Summary: This review summarizes recent advances in the study of high-resolution structures of ryanodine receptors (RyRs) and discusses the gating mechanisms, regulatory mechanisms, and the impact of disease-causing mutations on the structure and function of RyRs. The structural information obtained could contribute to the diagnosis and development of pharmacological therapies for related diseases.
FRONTIERS IN PHARMACOLOGY
(2022)
Review
Pharmacology & Pharmacy
Angela F. Dulhunty, Lan Wei-LaPierre, Marco G. Casarotto, Nicole A. Beard
CLINICAL AND EXPERIMENTAL PHARMACOLOGY AND PHYSIOLOGY
(2017)
Article
Biochemistry & Molecular Biology
Nicole C. Norris, Soumya Joseph, Shouvik Aditya, Yamuna Karunasekara, Philip G. Board, Angela F. Dulhunty, Aaron J. Oakley, Marco G. Casarotto
JOURNAL OF BIOLOGICAL CHEMISTRY
(2017)
Article
Cell Biology
Spencer J. Richardson, Gregory A. Steele, Esther M. Gallant, Alexander Lam, Charles E. Schwartz, Philip G. Board, Marco G. Casarotto, Nicole A. Beard, Angela F. Dulhunty
JOURNAL OF CELL SCIENCE
(2017)
Article
Cell Biology
Claudio F. Perez, Jose M. Eltit, Jose R. Lopez, Dora Bodnar, Angela F. Dulhunty, Shouvik Aditya, Marco G. Casarotto
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
(2018)
Article
Biochemistry & Molecular Biology
Amanda Denniss, Angela F. Dulhunty, Nicole A. Beard
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
(2018)
Article
Chemistry, Medicinal
Ken Robinson, Christopher J. Easton, Angela F. Dulhunty, Marco G. Casarotto
Article
Pharmacology & Pharmacy
A. D. Chakraborty, L. A. Gonano, M. L. Munro, L. J. Smith, C. Thekkedam, V. Staudacher, A. B. Gamble, N. Macquaide, A. F. Dulhunty, P. P. Jones
BRITISH JOURNAL OF PHARMACOLOGY
(2019)
Article
Cell Biology
Samantha C. Salvage, Esther M. Gallant, Nicole A. Beard, Shiraz Ahmad, Haseeb Valli, James A. Fraser, Christopher L. -H. Huang, Angela F. Dulhunty
JOURNAL OF CELL SCIENCE
(2019)
Article
Clinical Neurology
David Thean, Alex Lam, Stephen Honeybul
JOURNAL OF CLINICAL NEUROSCIENCE
(2019)
Article
Physiology
Samantha C. Salvage, Christopher L. -H. Huang, James A. Fraser, Angela F. Dulhunty
Summary: Flecainide, an antiarrhythmic drug, can reduce calcium ion release in the heart through multiple molecular mechanisms. It plays an important role in the treatment of catecholaminergic polymorphic ventricular tachycardia (CPVT).
JOURNAL OF GENERAL PHYSIOLOGY
(2022)
Article
Multidisciplinary Sciences
Denesh Selvarajah, Alexander Lam, Mitali Fadia, David McDowell
Summary: Pilomyxoid astrocytoma (PMA) is a rare variant of astrocytoma that is usually found in the hypothalamic and chiasmatic areas in children. PMA shares many histopathological features with Pilocytic astrocytoma (PA), but has notable differences in radiological and histopathological findings, and is known to exhibit more aggressive clinical progression. We report a rare case of PMA in a 25-year-old female involving the temporal lobe, presenting with recurrent partial seizures. This case is unique due to the uncommon location, unusual age group, and distinctive radiological features.
Review
Biology
Samantha C. C. Salvage, Angela F. F. Dulhunty, Kamalan Jeevaratnam, Antony P. P. Jackson, Christopher L. -H. Huang
Summary: Skeletal and cardiac muscle excitation-contraction coupling involves the interaction between Na(v)1.4/Na(v)1.5 and Cav1.1/Cav1.2 channels, as well as RyR1/RyR2 receptors, mediated by SR Ca2+ release. Studies have shown the potential feedback actions of SR Ca2+ release on Na(v)1.4/Na(v)1.5 function. Experimental observations have revealed the effects of RyR inhibitors and activators on Na+ currents in muscle fibers and cardiomyocytes. The modulation of Ca2+ transients and AP conduction has implications for arrhythmogenicity.
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
(2023)
Article
Biology
S. J. Richardson, C. G. Thekkedam, M. G. Casarotto, N. A. Beard, A. F. Dulhunty
Summary: Cardiac ryanodine receptors (RyR2) play a crucial role in releasing intracellular calcium essential for cardiac myocyte contraction. The regulation of ion channel opening by intracellular factors, including FK506 binding proteins FKBP12 and FKBP12.6, and their impact on RyR2 activity and cardiac contraction are still debated. This study demonstrates that FKBP12 activates RyR2 with high affinity and inhibits RyR2 with lower affinity, suggesting a model of negative cooperativity in FKBP12 binding. The dissociation of FKBP12/12.6 could dynamically affect RyR2 activity, indicating the significant role of FKBP12/12.6 in Ca2+ signaling and cardiac function.
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
(2023)
Review
Biophysics
Angela F. Dulhunty
Summary: The discovery of gating currents and asymmetric charge movement in the early 1970s has greatly advanced our understanding of the biophysical basis of voltage-dependent events in nerve and muscle function. The detection of these currents and charge movement has been crucial in unraveling the molecular and intra-molecular processes underlying action potentials and excitation-contraction coupling in excitable tissues.
BIOPHYSICAL REVIEWS
(2023)
Review
Pharmacology & Pharmacy
Samantha C. Salvage, Karthik H. Chandrasekharan, Kamalan Jeevaratnam, Angela F. Dulhunty, Andrew J. Thompson, Antony P. Jackson, Christopher L-H Huang
BRITISH JOURNAL OF PHARMACOLOGY
(2018)