TRPV1 variants impair intracellular Ca 2+ signaling and may confer susceptibility to malignant hyperthermia

Malignant hyperthermia (MH) is a pharmacogenetic disorder arising from uncontrolled muscle calcium release due to an abnormality in the sarcoplasmic reticulum (SR) calcium-release mechanism triggered by halogenated inhalational anesthetics. However, the molecular mechanisms involved are still incomp...

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Veröffentlicht in:	Genetics in medicine 2019-02, Vol.21 (2), p.441
Hauptverfasser:	Vanden Abeele, Fabien, Lotteau, Sabine, Ducreux, Sylvie, Dubois, Charlotte, Monnier, Nicole, Hanna, Amy, Gkika, Dimitra, Romestaing, Caroline, Noyer, Lucile, Flourakis, Matthieu, Tessier, Nolwenn, Al-Mawla, Ribal, Chouabe, Christophe, Lefai, Etienne, Lunardi, Joël, Hamilton, Susan, Fauré, Julien, Van Coppenolle, Fabien, Prevarskaya, Natalia
Format:	Artikel
Sprache:	eng
Schlagworte:	Anesthetics - pharmacology Animals Calcium Calcium Signaling Disease Models, Animal Female Gene Expression - drug effects Gene Knock-In Techniques Genetic Predisposition to Disease HEK293 Cells Homeostasis Humans Male Malignant Hyperthermia - genetics Malignant Hyperthermia - metabolism Mice Mice, Inbred C57BL Muscle, Skeletal - metabolism TRPV Cation Channels - genetics TRPV Cation Channels - metabolism
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