Discover Community Create You

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

Correcting congenital myasthenia-associated acetylcholine receptor defects.

Nature - 1 Aug 2026

Li Huanhuan, Mukhtasimova Nuriya, Teng Jinfeng, Cavalli Elfie S, Gu Xilin, Sello Jason K, Sine Steven M, Hibbs Ryan E

Abstract excerpt

Voluntary muscle contraction is triggered by the neurotransmitter acetylcholine binding its receptors on the postsynaptic membrane of the neuromuscular junction, opening ion channels that allow cation influx and initiate depolarization1-3. Mutations in muscle acetylcholine receptors disrupt this process by either impairing (fast-channel) or prolonging (slow-channel) channel openings1,4. These defects cause...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Allosteric Site
Share to Cryoelectron Microscopy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fluoxetine

Share to Ion Channel Gating

Share to Models, Molecular

Share to Morpholines

Share to Myasthenic Syndromes, Congenital

Share to Receptors, Cholinergic

Source

Open in PubMed Open full text

Identifiers

PMID: 42386970
DOI: 10.1038/s41586-026-10706-1
PMCID: PMC13430646

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Correcting congenital myasthenia-associated acetylcholine receptor defects.PMID 42386970Read ↗

Congenital myasthenic syndromes.Semantic proximity Read ↗

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

Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome.Semantic proximity Read ↗

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

Disorders of neuromuscular junction ion channels.Semantic 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 ↗

Dantrolene inhibition of ryanodine receptor 1 carrying the severe malignant hyperthermia mutation Y522S visualized by cryo-EM.Semantic proximity Read ↗

Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.Semantic proximity Read ↗

Structures of the human adult muscle-type nicotinic receptor in resting and desensitised statesSemantic proximity Read ↗

Molecular mechanism of the severe MH/CCD mutation Y522S in skeletal ryanodine receptor (RyR1) by cryo-EM.Semantic proximity Read ↗

Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit.Semantic proximity Read ↗

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

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