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

Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker.

Brain : a journal of neurology - 1 Feb 2005

Shen Xin-Ming, Ohno Kinji, Sine Steven M, Engel Andrew G

Abstract excerpt

We trace the cause of congenital myasthenic syndromes in two patients to mutations in the epsilon subunit of the muscle acetylcholine receptor (AChR). Both patients harbour deletion of an asparagine residue in the epsilon subunit (epsilonN436del) at the C-terminus of the cytoplasmic loop linking the third (M3) and fourth (M4) transmembrane domains. The presence of a null mutation in the second allele of the...

Read the complete abstract on PubMed

Topics

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

Share to Evoked Potentials, Motor
Share to Facies

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Ion Channel Gating

Share to Muscle, Skeletal

Share to Myasthenic Syndromes, Congenital

Share to Patch-Clamp Techniques

Share to Receptors, Cholinergic

Share to Species Specificity

Source

Identifiers

PMID: 15615813
DOI: 10.1093/brain/awh364

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker.PMID 15615813Read ↗

The extracellular linker of muscle acetylcholine receptor channels is a gating control element.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 ↗

Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit.Semantic proximity Read ↗

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

Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.Semantic proximity Read ↗

Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations.Semantic proximity Read ↗

The role of intracellular linkers in gating and desensitization of human pentameric ligand-gated ion channels.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 ↗

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

Mutations at lipid-exposed residues of the acetylcholine receptor affect its gating kinetics.Semantic proximity Read ↗

A distinct contribution of the delta subunit to acetylcholine receptor channel activation revealed by mutations of the M2 segment.Semantic proximity Read ↗

Investigation of Congenital Myasthenia Reveals Functional Asymmetry of Invariant Acetylcholine Receptor (AChR) Cys-loop Aspartates.Semantic proximity Read ↗

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