Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit
about
Epibatidine activates muscle acetylcholine receptors with unique site selectivity.Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assemblyRapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndromeEnd-plate acetylcholine receptor: structure, mechanism, pharmacology, and diseaseFundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndromeKinetic determinants of agonist action at the recombinant human glycine receptorAcetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenitaIdentification of critical residues in loop E in the 5-HT3ASR binding siteNovel mouse model reveals distinct activity-dependent and -independent contributions to synapse developmentCongenital myasthenic syndromes: pathogenesis, diagnosis, and treatmentActivation of endplate nicotinic acetylcholine receptors by agonistsRecent advances in Cys-loop receptor structure and functionNovel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanismsEnergetics of gating at the apo-acetylcholine receptor transmitter binding site.Acetylcholine receptors and myasthenia.A single mutation in the acetylcholine receptor δ-subunit causes distinct effects in two types of neuromuscular synapsesPlasticity of acetylcholine receptor gating motions via rate-energy relationships.Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.What have we learned from the congenital myasthenic syndromesSite selectivity of competitive antagonists for the mouse adult muscle nicotinic acetylcholine receptor.Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.Detection and trapping of intermediate states priming nicotinic receptor channel opening.Myasthenic syndrome caused by mutation of the SCN4A sodium channelSerum choline activates mutant acetylcholine receptors that cause slow channel congenital myasthenic syndromesCurrent status of the congenital myasthenic syndromes.Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gatingPostsynaptic abnormalities at the neuromuscular junctions of utrophin-deficient miceNaturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating.The extracellular linker of muscle acetylcholine receptor channels is a gating control element.Invariant aspartic Acid in muscle nicotinic receptor contributes selectively to the kinetics of agonist bindingInitial coupling of binding to gating mediated by conserved residues in the muscle nicotinic receptorCongenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.Nicotinic receptor transduction zone: invariant arginine couples to multiple electron-rich residues.Investigation of Congenital Myasthenia Reveals Functional Asymmetry of Invariant Acetylcholine Receptor (AChR) Cys-loop Aspartates.Nicotinic receptor interloop proline anchors beta1-beta2 and Cys loops in coupling agonist binding to channel gating.Function of interfacial prolines at the transmitter-binding sites of the neuromuscular acetylcholine receptor.Synergy between pairs of competitive antagonists at adult human muscle acetylcholine receptors.Morantel allosterically enhances channel gating of neuronal nicotinic acetylcholine alpha 3 beta 2 receptors.Unliganded gating of acetylcholine receptor channels
P2860
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P2860
Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit
description
1996 nî lūn-bûn
@nan
1996 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Congenital myasthenic syndrome ...... oline receptor epsilon subunit
@ast
Congenital myasthenic syndrome ...... oline receptor epsilon subunit
@en
Congenital myasthenic syndrome ...... oline receptor epsilon subunit
@nl
type
label
Congenital myasthenic syndrome ...... oline receptor epsilon subunit
@ast
Congenital myasthenic syndrome ...... oline receptor epsilon subunit
@en
Congenital myasthenic syndrome ...... oline receptor epsilon subunit
@nl
prefLabel
Congenital myasthenic syndrome ...... oline receptor epsilon subunit
@ast
Congenital myasthenic syndrome ...... oline receptor epsilon subunit
@en
Congenital myasthenic syndrome ...... oline receptor epsilon subunit
@nl
P2093
P3181
P1433
P1476
Congenital myasthenic syndrome ...... oline receptor epsilon subunit
@en
P2093
J M Brengman
J N Pruitt
P304
P3181
P356
10.1016/S0896-6273(00)80289-5
P407
P50
P577
1996-07-01T00:00:00Z