Point Mutations of Nicotinic Receptor α1 Subunit Reveal New Molecular Features of G153S Slow-Channel Myasthenia

Slow-channel congenital myasthenic syndromes (SCCMSs) are rare genetic diseases caused by mutations in muscle nicotinic acetylcholine receptor (nAChR) subunits. Most of the known SCCMS-associated mutations localize at the transmembrane region near the ion pore. Only two SCCMS point mutations are at...

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Auteurs principaux:	Denis Kudryavtsev, Anastasia Isaeva, Daria Barkova, Ekaterina Spirova, Renata Mukhutdinova, Igor Kasheverov, Victor Tsetlin
Format:	Artigo
Langue:	Inglês
Publié:	MDPI AG 2021-02-01
Collection:	Molecules
Sujets:	muscle nicotinic receptor gain-of-function channelopathy slow-channel congenital myasthenia patch-clamp molecular dynamics
Accès en ligne:	https://www.mdpi.com/1420-3049/26/5/1278
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