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Journal article

Muscle acetylcholine receptor conversion into chloride conductance at positive potentials by a single mutation

Abstract:

Charge selectivity forms the basis of cellular excitation or inhibition by Cys-loop ligand-gated ion channels (LGICs), and is essential for physiological receptor function. There are no reports of naturally occurring mutations in LGICs associated with the conversion of charge selectivity. Here, we report on a CHRNA1 mutation (α1Leu251Arg) in a patient with congenital myasthenic syndrome associated with transformation of the muscle acetylcholine receptor (AChR) into an inhibitory channel. Perf...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1073/pnas.1908284116

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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Clinical Neurosciences
Role:
Author
Publisher:
National Academy of Sciences
Journal:
Proceedings of the National Academy of Sciences More from this journal
Volume:
116
Issue:
42
Pages:
21228-21235
Publication date:
2019-09-30
Acceptance date:
2019-09-11
DOI:
EISSN:
1091-6490
ISSN:
0027-8424
Pmid:
31570625
Language:
English
Keywords:
Pubs id:
pubs:1061546
UUID:
uuid:ab561599-3020-4b66-a734-1b3f11fa3b1f
Local pid:
pubs:1061546
Source identifiers:
1061546
Deposit date:
2019-12-03

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