Chrna1

Summary

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)
Species: rat
Products:     Chrna1

Top Publications

  1. Witzemann V, Stein E, Barg B, Konno T, Koenen M, Kues W, et al. Primary structure and functional expression of the alpha-, beta-, gamma-, delta- and epsilon-subunits of the acetylcholine receptor from rat muscle. Eur J Biochem. 1990;194:437-48 pubmed
    ..Thus in rat skeletal muscle the motor nerve regulates the expression of two functionally different AChR subtypes with different molecular composition by the differential expression of subunit-specific mRNAs. ..
  2. Gu Y, Franco A, Gardner P, Lansman J, Forsayeth J, Hall Z. Properties of embryonic and adult muscle acetylcholine receptors transiently expressed in COS cells. Neuron. 1990;5:147-57 pubmed
    ..Thus, some, but not all, of the differences between AChRs at adult endplates and those in the extrasynaptic membrane can be explained by the difference in subunit composition of gamma- and epsilon-AChRs. ..
  3. Harper C, Engel A. Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome. Ann Neurol. 1998;43:480-4 pubmed
  4. Wang Z, Hardy S, Hall Z. Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo. J Biol Chem. 1996;271:27575-84 pubmed
    ..These results show that a complete M1 domain is necessary for association of truncated N-terminal alpha and delta subunits into a heterodimer with high affinity ligand binding activity. ..
  5. Marchand S, Devillers Thiery A, Pons S, Changeux J, Cartaud J. Rapsyn escorts the nicotinic acetylcholine receptor along the exocytic pathway via association with lipid rafts. J Neurosci. 2002;22:8891-901 pubmed
    ..These data also raise the interesting hypothesis of the participation of the raft machinery in the targeting of signaling molecules to synaptic sites. ..
  6. Albuquerque E, Pereira E, Alkondon M, Rogers S. Mammalian nicotinic acetylcholine receptors: from structure to function. Physiol Rev. 2009;89:73-120 pubmed publisher
    ..Despite these numerous developments, our understanding of the contributions of specific neuronal nAChR subtypes to the many facets of physiology throughout the body remains in its infancy. ..
  7. Sigoillot S, Bourgeois F, Lambergeon M, Strochlic L, Legay C. ColQ controls postsynaptic differentiation at the neuromuscular junction. J Neurosci. 2010;30:13-23 pubmed publisher
    ..Together, our results demonstrate that ColQ, in addition to its structural role, has important regulatory functions at the synapse by controlling AChR clustering and synaptic gene expression through its interaction with MuSK. ..
  8. Witzemann V, Chevessier F, Pacifici P, Yampolsky P. The neuromuscular junction: selective remodeling of synaptic regulators at the nerve/muscle interface. Mech Dev. 2013;130:402-11 pubmed publisher
    ..The results show that detailed analysis of mouse models will help to understand the complexity in mechanisms that regulate synaptic remodeling. ..
  9. Milone M, Wang H, Ohno K, Fukudome T, Pruitt J, Bren N, et al. 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. J Neurosci. 1997;17:5651-65 pubmed

More Information

Publications16

  1. 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. ..
  2. 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 ..
  3. 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. ..
  4. 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
  5. 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. ..
  6. 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. ..
  7. 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. ..