Malignant hyperthermia: a review

H Rosenberg, N Pollock, A Schiemann… - Orphanet journal of rare …, 2015 - Springer
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents
as a hypermetabolic response to potent volatile anesthetic gases such as halothane …

Molecular nature and physiological role of the mitochondrial calcium uniporter channel

BR Alevriadou, A Patel, M Noble… - … of Physiology-Cell …, 2021 - journals.physiology.org
Abstract Calcium (Ca 2+) signaling is critical for cell function and cell survival. Mitochondria
play a major role in regulating the intracellular Ca 2+ concentration ([Ca 2+] i). Mitochondrial …

Endoplasmic-reticulum calcium depletion and disease

D Mekahli, G Bultynck, JB Parys… - Cold Spring …, 2011 - cshperspectives.cshlp.org
The endoplasmic reticulum (ER) as an intracellular Ca2+ store not only sets up cytosolic
Ca2+ signals, but, among other functions, also assembles and folds newly synthesized …

Interactions between sarco-endoplasmic reticulum and mitochondria in cardiac and skeletal muscle – pivotal roles in Ca2+ and reactive oxygen species signaling

V Eisner, G Csordás, G Hajnóczky - Journal of cell science, 2013 - journals.biologists.com
Mitochondria are strategically and dynamically positioned in the cell to spatially coordinate
ATP production with energy needs and to allow the local exchange of material with other …

[HTML][HTML] Ryanodine receptor 1-related myopathies: diagnostic and therapeutic approaches

TA Lawal, JJ Todd, KG Meilleur - Neurotherapeutics, 2018 - Elsevier
Ryanodine receptor type 1-related myopathies (RYR1-RM) are the most common class of
congenital myopathies. Historically, RYR1-RM classification and diagnosis have been …

Intracellular Ca2+ storage in health and disease: a dynamic equilibrium

E Sammels, JB Parys, L Missiaen, H De Smedt… - Cell calcium, 2010 - Elsevier
Homeostatic control of the endoplasmic reticulum (ER) both as the site for protein handling
(synthesis, folding, trafficking, disaggregation and degradation) and as a Ca2+ store is of …

[HTML][HTML] Restoration of SERCA ATPase prevents oxidative stress-related muscle atrophy and weakness

R Qaisar, S Bhaskaran, R Ranjit, K Sataranatarajan… - Redox biology, 2019 - Elsevier
Molecular targets to reduce muscle weakness and atrophy due to oxidative stress have
been elusive. Here we show that activation of Sarcoplasmic Reticulum (SR) Ca 2+ ATPase …

MG53 suppresses interferon-β and inflammation via regulation of ryanodine receptor-mediated intracellular calcium signaling

M Sermersheim, AD Kenney, PH Lin… - Nature …, 2020 - nature.com
TRIM family proteins play integral roles in the innate immune response to virus infection.
MG53 (TRIM72) is essential for cell membrane repair and is believed to be a muscle-specific …

Heat-hypersensitive mutants of ryanodine receptor type 1 revealed by microscopic heating

K Oyama, V Zeeb, T Yamazawa… - Proceedings of the …, 2022 - National Acad Sciences
Thermoregulation is an important aspect of human homeostasis, and high temperatures
pose serious stresses for the body. Malignant hyperthermia (MH) is a life-threatening …

[HTML][HTML] Nonspecific sarcolemmal cation channels are critical for the pathogenesis of malignant hyperthermia

JM Eltit, X Ding, IN Pessah, PD Allen… - The FASEB …, 2013 - ncbi.nlm.nih.gov
Malignant hyperthermia (MH) susceptibility has been attributed to a leaky sarcoplasmic
reticulum (SR) caused by missense mutations in RYR1 or CACNA1S, and the MH crisis has …