TRPV1 variants impair intracellular Ca2+ signaling and may confer susceptibility to malignant hyperthermia.

doi:10.1038/s41436-018-0066-9

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Article

TRPV1 variants impair intracellular Ca2+ signaling and may confer susceptibility to malignant hyperthermia.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2019

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

Abstract excerpt

PURPOSE: 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 incomplete. METHODS: We aimed to identify transient receptor potential vanilloid 1 (TRPV1) variants within the...

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Identifiers

PMID: 29930394
DOI: 10.1038/s41436-018-0066-9
PMCID: PMC6752298

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TRPV1

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