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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Pubblicato in:Molecules
Autori principali: Kudryavtsev, Denis, Isaeva, Anastasia, Barkova, Daria, Spirova, Ekaterina, Mukhutdinova, Renata, Kasheverov, Igor, Tsetlin, Victor
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2021
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7956382/
https://ncbi.nlm.nih.gov/pubmed/33652901
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/molecules26051278
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