Genomes and Genes
Gene Symbol: Chrna1
Description: cholinergic receptor nicotinic alpha 1 subunit
Alias: acetylcholine receptor subunit alpha, cholinergic receptor nicotinic alpha polypeptide 1, cholinergic receptor, nicotinic, alpha 1 (muscle), cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)
- Im S, Barchan D, Fuchs S, Souroujon M. Suppression of ongoing experimental myasthenia by oral treatment with an acetylcholine receptor recombinant fragment. J Clin Invest. 1999;104:1723-30 pubmed..Our results in experimental myasthenia suggest that oral administration of AChR-specific recombinant fragments may be considered for antigen-specific immunotherapy of myasthenia gravis. ..
- Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, et al. Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am J Hum Genet. 2008;82:464-76 pubmed publisher..Other AChR subunits alpha1, beta1, and delta (CHRNA1, CHRNB1, CHRND) as well as receptor-associated protein of the synapse (RAPSN) previously revealed missense or ..
- Engel A, Ohno K, Milone M, Wang H, Nakano S, Bouzat C, et al. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum Mol Genet. 1996;5:1217-27 pubmed..The safety margin of neuromuscular transmission is compromised by AChR loss from the junctional folds and by a depolarization block owing to temporal summation of prolonged end plate potentials at physiologic rates of stimulation. ..
- Abdelgany A, Wood M, Beeson D. Allele-specific silencing of a pathogenic mutant acetylcholine receptor subunit by RNA interference. Hum Mol Genet. 2003;12:2637-44 pubmed
- Fu A, Ip F, Fu W, Cheung J, Wang J, Yung W, et al. Aberrant motor axon projection, acetylcholine receptor clustering, and neurotransmission in cyclin-dependent kinase 5 null mice. Proc Natl Acad Sci U S A. 2005;102:15224-9 pubmed..Taken together, our findings reveal the essential role of Cdk5 in regulating the development of motor axons and neuromuscular synapses in vivo. ..
- Valkova C, Albrizio M, Röder I, Schwake M, Betto R, Rudolf R, et al. Sorting receptor Rer1 controls surface expression of muscle acetylcholine receptors by ER retention of unassembled alpha-subunits. Proc Natl Acad Sci U S A. 2011;108:621-5 pubmed publisher..Our data show that Rer1 is a functionally important unique factor that controls surface expression of muscle acetylcholine receptors by localizing unassembled ?-subunits to the early secretory pathway. ..
- Rasoulpour R, Ellis Hutchings R, Terry C, Millar N, Zablotny C, Gibb A, et al. A novel mode-of-action mediated by the fetal muscle nicotinic acetylcholine receptor resulting in developmental toxicity in rats. Toxicol Sci. 2012;127:522-34 pubmed publisher..Taken together, the data support the hypothesis that the developmental effects of sulfoxaflor in rats are mediated via sustained agonism on the fetal muscle nAChR during late fetal development and are considered not relevant to humans. ..