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Study traced the cause of congenital myasthenia syndrome in unrelated patients with dominant missense mutations in the M2 domain of AChR. A valine residue is replaced by a smaller alanine either in the epsilon subunit (show CHRNE ELISA Kits) or an equivalent position in the beta one. Also, each valine in the valine ring was found to contribute to channel kinetics equally, and the valine ring has bee optimized during evolution to govern channe...
This study reports on the presence of the CHRNB1 at the cellular level in human skeletal muscle and placenta and that mRNA expression mirrors that of protein within cell types.
Association of the nicotinic acetylcholine receptor beta1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (show CHRNA1 ELISA Kits) (CHRM1 (show CHRM1 ELISA Kits)) with vulnerability for nicotine dependence.
No CHRNA1 (show CHRNA1 ELISA Kits), CHRNB1, or CHRND (show CHRND ELISA Kits) mutations were detected, but a homozygous RAPSN (show RAPSN ELISA Kits) frameshift mutation, c.1177-1178delAA, was identified in a family with three children affected with lethal fetal akinesia sequence.
Conformational changes involved in channel gating propagate from the binding-site to the channel in the ACh (show FGFR3 ELISA Kits)-binding subunits and subsequently spread to the non-binding subunit.
The metabolic stabilization of the AChR by agrin (show AGRN ELISA Kits) or pervanadate was mediated specifically by phosphorylation of betaY390.
Tyrosine phosphorylation of the acetylcholine receptor (AChR) beta-subunit (show POLG ELISA Kits) is important in organizing AChRs and regulating synaptic differentiation.
In V266M mutant the peak-current amplitude decreases along trains of nearly saturating ACh (show FGFR3 ELISA Kits) pulses delivered at physiologically relevant frequencies, consistent with enhanced entry into desensitization in congenital myasthenic syndrome.
The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome.
nicotinic acetylcholine receptor beta 1 subunit
, cholinergic receptor, nicotinic, beta 1 (muscle)
, AChR beta1b
, acetylcholine receptor subunit beta
, acetylcholine receptor subunit beta 1
, nicotinic acetylcholine receptor subunit beta 1b
, acetylcholine receptor, nicotinic, beta 1 (muscle)
, cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)
, Acetylcholine receptor beta
, cholinergic receptor nicotinic beta polypeptide 1
, AChR beta
, acetylcholine receptor beta