Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mouse Model of Fast-Channel Genetic Myasthenic Syndrome Carrying Chrne p.P141L Mutation.

Biomolecules - 23 Jun 2026

Webster Richard G, Maxwell Susan, Dong Yin Y

Abstract excerpt

Fast-channel genetic myasthenic syndromes (FCGMSs) are caused by genetic variants in muscle nicotinic acetylcholine receptor (AChR) subunits that reduce channel open times and impair neuromuscular transmission. Among these, the CHRNE p.P141L variant (εP141L) is associated with particularly severe disease. Here, we characterized a knock-in mouse model harboring the homologous p.P141L variant in Chrne...

Topics

Animals
Receptors, Nicotinic
Mice
Disease Models, Animal
Neuromuscular Junction
Myasthenic Syndromes, Congenital
Mice, Inbred C57BL
Mutation
Male
Synaptic Transmission
Female
Gene Knock-In Techniques

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Open in PubMed Open full text

Identifiers

PMID: 42509725
DOI: 10.3390/biom16070931
PMCID: PMC13406490

Genes

CHRNE
CHRNG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mouse Model of Fast-Channel Genetic Myasthenic Syndrome Carrying Chrne p.P141L Mutation.PMID 42509725Read ↗

A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation.Semantic proximity Read ↗

A mouse model of the slow channel myasthenic syndrome: Neuromuscular physiology and effects of ephedrine treatment.Semantic proximity Read ↗

A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductanceSemantic proximity Read ↗

A novel fast-channel myasthenia caused by mutation in β subunit of AChR reveals subunit-specific contribution of the intracellular M1-M2 linker to channel gating.Semantic proximity Read ↗

Congenital myasthenic syndromes.Semantic proximity Read ↗

Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.Semantic proximity Read ↗

Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit.Semantic proximity Read ↗

New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.Semantic proximity Read ↗

Mechanistic Diversity Underlying Fast Channel Congenital Myasthenic SyndromesSemantic proximity Read ↗

Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.Semantic proximity Read ↗

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.Semantic proximity Read ↗

Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.