Pathogenic point mutations in a transmembrane domain of the ε subunit increase the Ca(2+) permeability of the human endplate ACh receptor

The ε subunit of the human endplate ACh receptor (AChR) is a key determinant of the large fraction of the ACh-evoked current carried by Ca(2+) ions (P(f)). Consequently, missense mutations in the ε subunit are potential targets for altering the P(f) of human AChR. In this paper we investigate the ef...

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Hauptverfasser: Castro, Amalia Di, Martinello, Katiuscia, Grassi, Francesca, Eusebi, Fabrizio, Engel, Andrew G
Format: Artigo
Sprache:Inglês
Veröffentlicht: Blackwell Science Inc 2007
Schlagworte:
Cellular
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2151372/
https://ncbi.nlm.nih.gov/pubmed/17272341
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1113/jphysiol.2007.127977
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