Gene Symbol: Chrna1
Description: cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)
Alias: AI385656, AI608266, Achr-1, Acra, acetylcholine receptor subunit alpha
Species: mouse
Products:     Chrna1

Top Publications

  1. Riethmacher D, Sonnenberg Riethmacher E, Brinkmann V, Yamaai T, Lewin G, Birchmeier C. Severe neuropathies in mice with targeted mutations in the ErbB3 receptor. Nature. 1997;389:725-30 pubmed
    ..Our results indicate that sensory and motor neurons require factors for their survival that are provided by developing Schwann cells. ..
  2. 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. ..
  3. Yang X, Arber S, William C, Li L, Tanabe Y, Jessell T, et al. Patterning of muscle acetylcholine receptor gene expression in the absence of motor innervation. Neuron. 2001;30:399-410 pubmed
    ..Our results demonstrate that AChR expression is patterned in the absence of innervation, raising the possibility that similarly prepatterned muscle-derived cues restrict axon growth and initiate synapse formation. ..
  4. Liu Y, Padgett D, Takahashi M, Li H, Sayeed A, Teichert R, et al. Essential roles of the acetylcholine receptor gamma-subunit in neuromuscular synaptic patterning. Development. 2008;135:1957-67 pubmed publisher
    ..These results demonstrate that the gamma-subunit is required for the formation of pre-patterned AChR clusters, which in turn play an essential role in determining the subsequent pattern of neuromuscular synaptogenesis. ..
  5. Kishi M, Kummer T, Eglen S, Sanes J. LL5beta: a regulator of postsynaptic differentiation identified in a screen for synaptically enriched transcripts at the neuromuscular junction. J Cell Biol. 2005;169:355-66 pubmed
    ..Thus, a strategy designed to identify novel synaptic components led to identification of a protein required for assembly of the postsynaptic apparatus. ..
  6. Weatherbee S, Anderson K, Niswander L. LDL-receptor-related protein 4 is crucial for formation of the neuromuscular junction. Development. 2006;133:4993-5000 pubmed
    ..The identification of Lrp4 as a crucial factor for NMJ formation may have implications for human neuromuscular diseases such as myasthenia syndromes. ..
  7. Imaizumi Scherrer T, Faust D, Benichou J, Hellio R, Weiss M. Accumulation in fetal muscle and localization to the neuromuscular junction of cAMP-dependent protein kinase A regulatory and catalytic subunits RI alpha and C alpha. J Cell Biol. 1996;134:1241-54 pubmed
    ..In the adult, the C alpha hybridization signal of muscle is weak and homogeneous...
  8. Lin W, Dominguez B, Yang J, Aryal P, Brandon E, Gage F, et al. Neurotransmitter acetylcholine negatively regulates neuromuscular synapse formation by a Cdk5-dependent mechanism. Neuron. 2005;46:569-79 pubmed
    ..Genetic elimination of Cdk5 or blocking ACh production prevents the dispersion of AChR clusters in agrin mutants. Therefore, we propose that ACh negatively regulates neuromuscular synapse formation through a Cdk5-dependent mechanism. ..
  9. Patton B, Miner J, Chiu A, Sanes J. Distribution and function of laminins in the neuromuscular system of developing, adult, and mutant mice. J Cell Biol. 1997;139:1507-21 pubmed
    ..The ability of laminin 11 to serve as a stop signal for growing axons explains, in part, axonal behaviors observed at developing and regenerating synapses in vivo. ..

More Information


  1. 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. ..
  2. Noakes P, Phillips W, Hanley T, Sanes J, Merlie J. 43K protein and acetylcholine receptors colocalize during the initial stages of neuromuscular synapse formation in vivo. Dev Biol. 1993;155:275-80 pubmed
    ..The precise colocalization of 43K and AChRs persisted through development. These results are consistent with 43K being involved in the nerve-induced clustering of AChRs during synapse formation. ..
  3. Okada K, Inoue A, Okada M, Murata Y, Kakuta S, Jigami T, et al. The muscle protein Dok-7 is essential for neuromuscular synaptogenesis. Science. 2006;312:1802-5 pubmed publisher
    ..Mice lacking Dok-7 formed neither acetylcholine receptor clusters nor neuromuscular synapses. Thus, Dok-7 is essential for neuromuscular synaptogenesis through its interaction with MuSK...
  4. 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. ..
  5. Duclert A, Changeux J. Acetylcholine receptor gene expression at the developing neuromuscular junction. Physiol Rev. 1995;75:339-68 pubmed
  6. Zhang G, Kernan K, Thomas A, Collins S, Song Y, Li L, et al. A novel signaling pathway: fibroblast nicotinic receptor alpha1 binds urokinase and promotes renal fibrosis. J Biol Chem. 2009;284:29050-64 pubmed publisher
    ..This new fibrosis-promoting pathway may also be relevant to disorders that extend beyond chronic kidney disease. ..
  7. Yumoto N, Wakatsuki S, Kurisaki T, Hara Y, Osumi N, Frisen J, et al. Meltrin beta/ADAM19 interacting with EphA4 in developing neural cells participates in formation of the neuromuscular junction. PLoS ONE. 2008;3:e3322 pubmed publisher
    ..We propose that Meltrin beta stabilizes the interaction between ephrin-A5 and EphA4 by regulating endocytosis of the ephrinA5-EphA complex negatively, which would contribute to the fine-tuning of the NMJ during development. ..
  8. 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 ..
  9. Sheng J, Li L, Prabhakar B, Meriggioli M. Acetylcholine receptor-alpha subunit expression in myasthenia gravis: a role for the autoantigen in pathogenesis?. Muscle Nerve. 2009;40:279-86 pubmed publisher
    ..This enhanced expression of AChR may play a role in driving the ongoing autoimmune response. Muscle Nerve 40: 279-286, 2009. ..
  10. Leu M, Bellmunt E, Schwander M, Farinas I, Brenner H, Muller U. Erbb2 regulates neuromuscular synapse formation and is essential for muscle spindle development. Development. 2003;130:2291-301 pubmed
    ..However, functional spindles never develop. Taken together, our data suggest that Erbb2 signaling regulates the formation of both neuromuscular synapses and muscle spindles. ..
  11. 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
  12. Navedo M, Nieves M, Rojas L, Lasalde Dominicci J. Tryptophan substitutions reveal the role of nicotinic acetylcholine receptor alpha-TM3 domain in channel gating: differences between Torpedo and muscle-type AChR. Biochemistry. 2004;43:78-84 pubmed
    ..However, equivalent mutations (i.e., F284W and I290W) presumably facing the lipid environment display a very different functional response between these two AChR species. ..
  13. Wheatley L, Urso D, Tumas K, Maltzman J, Loh E, Levinson A. Molecular evidence for the expression of nicotinic acetylcholine receptor alpha-chain in mouse thymus. J Immunol. 1992;148:3105-9 pubmed
  14. Peichel C, Abbott C, Vogt T. Genetic and physical mapping of the mouse Ulnaless locus. Genetics. 1996;144:1757-67 pubmed
    ..Therefore, the region that must contain the Ulnaless locus has been defined and cloned, which will be invaluable for the identification of the molecular nature of the Ulnaless mutation. ..
  15. Chen F, Qian L, Yang Z, Huang Y, Ngo S, Ruan N, et al. Rapsyn interaction with calpain stabilizes AChR clusters at the neuromuscular junction. Neuron. 2007;55:247-60 pubmed
    ..These results demonstrate that calpain participates in ACh-induced dispersion of AChR clusters, and rapsyn stabilizes AChR clusters by suppressing calpain activity. ..
  16. Cashin A, Torrice M, McMenimen K, Lester H, Dougherty D. Chemical-scale studies on the role of a conserved aspartate in preorganizing the agonist binding site of the nicotinic acetylcholine receptor. Biochemistry. 2007;46:630-9 pubmed
  17. Warden C, Davis R, Yoon M, Hui D, Svenson K, Xia Y, et al. Chromosomal localization of lipolytic enzymes in the mouse: pancreatic lipase, colipase, hormone-sensitive lipase, hepatic lipase, and carboxyl ester lipase. J Lipid Res. 1993;34:1451-5 pubmed
    ..Comparison of chromosomal locations for these genes in mouse and humans shows that the previously observed interspecies syntenies are preserved. ..
  18. Herbst R, Avetisova E, Burden S. Restoration of synapse formation in Musk mutant mice expressing a Musk/Trk chimeric receptor. Development. 2002;129:5449-60 pubmed
    ..Moreover, acetylcholine receptor clustering and motor terminal branching are restored in parallel, indicating that the extent of presynaptic differentiation is matched to the extent of postsynaptic differentiation. ..
  19. Misgeld T, Burgess R, Lewis R, Cunningham J, Lichtman J, Sanes J. Roles of neurotransmitter in synapse formation: development of neuromuscular junctions lacking choline acetyltransferase. Neuron. 2002;36:635-48 pubmed
    ..At subsequent stages, neurotransmission delays some steps in synaptic maturation but accelerates others. Thus, neurotransmission affects synaptogenesis from early stages and coordinates rather than drives synaptic maturation. ..
  20. Crosby J, Phillips S, Nadeau J. The cardiac actin locus (Actc-1) is not on mouse chromosome 17 but is linked to beta 2-microglobulin on chromosome 2. Genomics. 1989;5:19-23 pubmed
    ..Close linkage of Actc-1 and B2m in both man and mouse provides another example of a chromosomal segment that has been conserved since the divergence of the lineages leading to these two species. ..
  21. Spitzmaul G, Gumilar F, Dilger J, Bouzat C. The local anaesthetics proadifen and adiphenine inhibit nicotinic receptors by different molecular mechanisms. Br J Pharmacol. 2009;157:804-17 pubmed publisher
    ..Two analogous local anaesthetics bind to different sites and inhibit AChR activity via different mechanisms and conformational states. These results provide new information on drug modulation of AChR. ..
  22. Stacy S, Gelb B, Koop B, Windle J, Wall K, Krolick K, et al. Split tolerance in a novel transgenic model of autoimmune myasthenia gravis. J Immunol. 2002;169:6570-9 pubmed
    ..This model offers a novel opportunity to elucidate mechanisms of tolerance regulation to muscle AChR and to clarify the role of T cells in MG. ..
  23. Smith C, Mittaud P, Prescott E, Fuhrer C, Burden S. Src, Fyn, and Yes are not required for neuromuscular synapse formation but are necessary for stabilization of agrin-induced clusters of acetylcholine receptors. J Neurosci. 2001;21:3151-60 pubmed
    ..These data show that the stabilization of agrin-induced AChR clusters requires Src and Fyn and suggest that the adaptor activities, rather than the kinase activities, of these kinases are essential for this stabilization. ..
  24. Tamimi R, Steingrimsson E, Copeland N, Dyer Montgomery K, Lee J, Hernandez R, et al. The NEUROD gene maps to human chromosome 2q32 and mouse chromosome 2. Genomics. 1996;34:418-21 pubmed
    ..Here we report the cloning of human NEUROD and mapping of the gene to human chromosome 2q32 and to mouse chromosome 2. ..
  25. Yumoto N, Wakatsuki S, Sehara Fujisawa A. The acetylcholine receptor gamma-to-epsilon switch occurs in individual endplates. Biochem Biophys Res Commun. 2005;331:1522-7 pubmed
    ..This finding will help our understanding of the mechanisms of the gamma-to-epsilon switch during establishment of the neuromuscular junction. ..
  26. Boettger Tong H, Agulnik A, Ty T, Bishop C. Transposition of RhoA to the murine Y chromosome. Genomics. 1998;49:180-7 pubmed
    ..The data indicate that the Y copies of RhoA have been transposed from an autosome, followed by subsequent duplication, sequence divergence, and acquisition of a testis-specific promoter/enhancer. ..
  27. Niedermeyer J, Enenkel B, Park J, Lenter M, Rettig W, Damm K, et al. Mouse fibroblast-activation protein--conserved Fap gene organization and biochemical function as a serine protease. Eur J Biochem. 1998;254:650-4 pubmed
    ..Consistent with the similarity to DPP IV, a chimeric FAP fusion protein expressed in a baculovirus system has dipeptidyl peptidase activity. ..
  28. Piette J, Huchet M, Houzelstein D, Changeux J. Compartmentalized expression of the alpha- and gamma-subunits of the acetylcholine receptor in recently fused myofibers. Dev Biol. 1993;157:205-13 pubmed
    ..This has important implications for the understanding of the molecular mechanisms of neuromuscular junction formation. ..
  29. Grajales Reyes G, Báez Pagán C, Zhu H, Grajales Reyes J, Delgado Vélez M, García Beltrán W, et al. Transgenic mouse model reveals an unsuspected role of the acetylcholine receptor in statin-induced neuromuscular adverse drug reactions. Pharmacogenomics J. 2013;13:362-8 pubmed publisher
    ..expressing the mutant allele of the rs137852808 SNP in the nicotinic acetylcholine receptor (nAChR) ?-subunit gene CHRNA1. Mice expressing this allele show a remarkable contamination of end-plates with caveolin-1 and develop early signs ..
  30. Lin W, Sanchez H, Deerinck T, Morris J, Ellisman M, Lee K. Aberrant development of motor axons and neuromuscular synapses in erbB2-deficient mice. Proc Natl Acad Sci U S A. 2000;97:1299-304 pubmed
    ..The postsynaptic defect features an impairment of junctional folds at the neuromuscular synapse in the mutants. These results demonstrate that erbB2 is essential for in vivo development of the NMJ. ..
  31. Abbott C, Pilz A, Moseley H, Peter J. The gene for proliferating cell nuclear antigen (Pcna) maps to mouse chromosome 2. Mamm Genome. 1992;3:286-9 pubmed
    ..This was confirmed by mapping Pcna in the BXH recombinant inbred (RI) strains; no recombinants were seen between Il-la and Pcna. In addition, a PCNA-related sequence (Pcna-rsl) was mapped to Chr 19 in the BXH RI strains. ..
  32. 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. ..
  33. Arber S, Ladle D, Lin J, Frank E, Jessell T. ETS gene Er81 controls the formation of functional connections between group Ia sensory afferents and motor neurons. Cell. 2000;101:485-98 pubmed
    ..ER81 therefore controls a late step in the establishment of functional sensory-motor circuitry in the developing spinal cord. ..
  34. Fuerst P, Rauch S, Burgess R. Defects in eye development in transgenic mice overexpressing the heparan sulfate proteoglycan agrin. Dev Biol. 2007;303:165-80 pubmed
  35. Lee Y, Rudell J, Ferns M. Rapsyn interacts with the muscle acetylcholine receptor via alpha-helical domains in the alpha, beta, and epsilon subunit intracellular loops. Neuroscience. 2009;163:222-32 pubmed publisher
    ..Binding at this site likely mediates the critical rapsyn interaction involved in localizing the acetylcholine receptor at the neuromuscular junction. ..
  36. Sorokin L, Pausch F, Frieser M, Kroger S, Ohage E, Deutzmann R. Developmental regulation of the laminin alpha5 chain suggests a role in epithelial and endothelial cell maturation. Dev Biol. 1997;189:285-300 pubmed
    ..The data show that laminin alpha5 expression is associated with epithelial and endothelial cell maturation, implicating a role for this laminin chain in the maintenance of differentiated epithelial and endothelial cell phenotype. ..
  37. Taylor B, Rowe L. Localization of the gene encoding the alpha-subunit of the acetylcholine receptor on chromosome 2 of the mouse. Cytogenet Cell Genet. 1989;52:102-3 pubmed
  38. Cifuentes Diaz C, Goudou D, Padilla F, Facchinetti P, Nicolet M, Mege R, et al. M-cadherin distribution in the mouse adult neuromuscular system suggests a role in muscle innervation. Eur J Neurosci. 1996;8:1666-76 pubmed
    ..M-cadherin might be involved not only in specific steps of myogenesis but also in some aspects of synaptogenesis, axon/Schwann cell interactions and node of Ranvier structural maintenance. ..
  39. O HARA B, Jenkins N, Gilbert D, Copeland N, Shows T, Eddy R, et al. Chromosomal assignment of the heparin-binding cytokine genes MDK and PTN in mouse and man. Cytogenet Cell Genet. 1995;69:40-3 pubmed
    ..A pseudogene of Mdk was mapped to mouse Chromosome 11. The closely related human gene PTN was mapped to a separate location on human chromosome region 7q22-->qter. ..
  40. 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. ..
  41. Santos J, Cole Y, Pellicer A. Phylogenetic relationships among laboratory and wild-origin Mus musculus strains on the basis of genomic DNA RFLPs. Mamm Genome. 1993;4:485-92 pubmed
    ..Natural. 106,283, 1972) and unbiased minimum (Genetics 89,583, 1978), Edwards (Biometrics 27,873, 1971; Genetic Distance, p. 41, 1974) and Rogers modified (1986). ..
  42. Degen S, Schaefer L, Jamison C, Grant S, Fitzgibbon J, Pai J, et al. Characterization of the cDNA coding for mouse prothrombin and localization of the gene on mouse chromosome 2. DNA Cell Biol. 1990;9:487-98 pubmed
    ..8 +/- 1.3 map units proximal to the catalase locus. The gene order in this region is Cen-Acra-Cf-2-Cas-1-A-Tel...
  43. Hezel M, de Groat W, Galbiati F. Caveolin-3 promotes nicotinic acetylcholine receptor clustering and regulates neuromuscular junction activity. Mol Biol Cell. 2010;21:302-10 pubmed publisher
    ..Together, these data identify caveolin-3 as a critical component of the signaling machinery that drives nicotinic acetylcholine receptor clustering and controls neuromuscular junction function. ..
  44. Stitzel J, Farnham D, Collins A. Linkage of strain-specific nicotinic receptor alpha 7 subunit restriction fragment length polymorphisms with levels of alpha-bungarotoxin binding in brain. Brain Res Mol Brain Res. 1996;43:30-40 pubmed
    ..A significant association between genotype and receptor levels was observed in both, the F2 and backcross generations. These results indicate that alpha 7 genotype is an important determinant of alpha-bungarotoxin receptor levels. ..
  45. Elenes S, Decker M, Cymes G, Grosman C. Decremental response to high-frequency trains of acetylcholine pulses but unaltered fractional Ca2+ currents in a panel of "slow-channel syndrome" nicotinic receptor mutants. J Gen Physiol. 2009;133:151-69 pubmed publisher
    ..Our estimate of the rat NMDAR Ca(2+) conductance (using the same single-channel approach as for the AChR but in the nominal absence of extracellular Mg(2+)) was 7.9 pS, corresponding to a fractional Ca(2+) current of 13%. ..
  46. Rudolf R, Bogomolovas J, Strack S, Choi K, Khan M, Wagner A, et al. Regulation of nicotinic acetylcholine receptor turnover by MuRF1 connects muscle activity to endo/lysosomal and atrophy pathways. Age (Dordr). 2013;35:1663-74 pubmed publisher
    ..Our data demonstrate an involvement of MuRF1 in membrane protein-turnover, including the degradation of AChRs at the NMJ under atrophying conditions where MuRF1 also interacts and associates with Bif-1. ..
  47. Thayabaran M, Yasawardene S. Neuronal control of localized inflammation through expressed nicotinic acetylcholine receptors: a study carried out in mice. Ceylon Med J. 2015;60:143-7 pubmed publisher
    ..The findings suggest the possible role of controlling localised inflammatory response by parasympathetic cholinergic nerves through a1nAChRs of inflammation sites. ..
  48. Drescher D, Khan K, Green G, Morley B, Beisel K, Kaul H, et al. Analysis of nicotinic acetylcholine receptor subunits in the cochlea of the mouse. Comp Biochem Physiol C Pharmacol Toxicol Endocrinol. 1995;112:267-73 pubmed
    ..The presence of messages corresponding to the muscle-type beta 1 and neuronal-type nAChR subunits may be correlated with the atypical cholinergic response of cochlear hair cells to agonists and antagonists. ..
  49. Gupta S, Purohit P, Auerbach A. Function of interfacial prolines at the transmitter-binding sites of the neuromuscular acetylcholine receptor. J Biol Chem. 2013;288:12667-79 pubmed publisher
    ..In adult-type ACh receptors, the energy from the affinity change for ACh is approximately the same at the two binding sites (approximately -5 kcal/mol). ..
  50. Watson J, Bhattacharyya B, Vaden J, Wilson J, Icyuz M, Howard A, et al. Motor and Sensory Deficits in the teetering Mice Result from Mutation of the ESCRT Component HGS. PLoS Genet. 2015;11:e1005290 pubmed publisher
    ..Our results indicate that HGS has multiple roles in the nervous system and demonstrate a previously unanticipated requirement for ESCRTs in the maintenance of synaptic transmission. ..
  51. Lyons G, Moore R, Yahara O, Buckingham M, Walsh F. Expression of NCAM isoforms during skeletal myogenesis in the mouse embryo. Dev Dyn. 1992;194:94-104 pubmed
    ..However, the 180 and 140 kDa NCAM isoforms are expressed at a high level in neural tissue and in other locations in the developing embryo such as in smooth muscle, around vibrissae follicles, and in the perichondrial zone of digits. ..
  52. Gonzalez Gutierrez G, Lukk T, Agarwal V, Papke D, Nair S, Grosman C. Mutations that stabilize the open state of the Erwinia chrisanthemi ligand-gated ion channel fail to change the conformation of the pore domain in crystals. Proc Natl Acad Sci U S A. 2012;109:6331-6 pubmed publisher
    ..Overall, our findings bring to light the limited power of functional studies in intact membranes when it comes to inferring the functional state of a channel in a crystal, at least in the case of the nicotinic-receptor superfamily...
  53. Bruneau E, Brenner D, Kuwada J, Akaaboune M. Acetylcholine receptor clustering is required for the accumulation and maintenance of scaffolding proteins. Curr Biol. 2008;18:109-15 pubmed publisher
    ..These results provide direct evidence that AChRs are essential for the local maintenance and accumulation of intracellular scaffolding proteins and suggest that the scaffold is organized into distinct modular units at AChR clusters. ..
  54. Hasty P, Bradley A, Morris J, Edmondson D, Venuti J, Olson E, et al. Muscle deficiency and neonatal death in mice with a targeted mutation in the myogenin gene. Nature. 1993;364:501-6 pubmed
    ..Myogenin-mutant mice differ from mice carrying mutations in genes for the related myogenic factors Myf5 and MyoD, which have no muscle defects. Myogenin is therefore essential for the development of functional skeletal muscle. ..
  55. Gautam M, Mudd J, Copeland N, Gilbert D, Jenkins N, Merlie J. Characterization and mapping of the Rapsn gene encoding the 43-kDa acetylcholine receptor-associated protein. Genomics. 1994;24:366-9 pubmed
    ..Finally, the 43K locus, designated Rapsn, has been mapped to the central region of mouse chromosome 2. ..
  56. Millar N, Gotti C. Diversity of vertebrate nicotinic acetylcholine receptors. Neuropharmacology. 2009;56:237-46 pubmed publisher
    ..This review will focus on vertebrate nAChRs and will provide an overview of the extent of nAChR diversity based on studies of both native and recombinant nAChRs. ..
  57. Sang Q, Young H. Development of nicotinic receptor clusters and innervation accompanying the change in muscle phenotype in the mouse esophagus. J Comp Neurol. 1997;386:119-36 pubmed
    ..However, many of the receptor clusters that were observed first were apparently uninnervated. ..
  58. Christianson J, Green W. Regulation of nicotinic receptor expression by the ubiquitin-proteasome system. EMBO J. 2004;23:4156-65 pubmed
    ..Our data show that AChR surface expression is regulated by the UPS through ERAD, whose activity determines oligomeric receptor assembly efficiency. ..
  59. Gould T, Yonemura S, Oppenheim R, Ohmori S, Enomoto H. The neurotrophic effects of glial cell line-derived neurotrophic factor on spinal motoneurons are restricted to fusimotor subtypes. J Neurosci. 2008;28:2131-46 pubmed publisher
    ..Therefore, although GDNF influences several aspects of MN development, the survival-promoting effects of GDNF during programmed cell death are mostly confined to spindle-innervating MNs. ..
  60. Wu X, Gao H, Xiao D, Luo S, Zhao Z. Effects of tensile stress on the alpha1 nicotinic acetylcholine receptor expression in maxillofacial skeletal myocytes. Mol Cell Biochem. 2008;311:51-6 pubmed
    ..05). It is concluded that nAChR was a possible molecular mechanism which might play an important role in mechanotransduction of tensile stress loading on maxillofacial skeletal myocytes. ..
  61. Christadoss P, Poussin M, Deng C. Animal models of myasthenia gravis. Clin Immunol. 2000;94:75-87 pubmed
    ..Antigen-specific tolerance and downregulation of pathogenic cytokines could achieve effective therapy of EAMG and probably MG. ..
  62. Keller S, Lindstrom J, Taylor P. Involvement of the chaperone protein calnexin and the acetylcholine receptor beta-subunit in the assembly and cell surface expression of the receptor. J Biol Chem. 1996;271:22871-7 pubmed
    ..Thus, calnexin appears to associate with the individual nascent subunits, thereby facilitating their assembly into the mature pentameric receptor. ..
  63. Kirschner M, Copeland N, Gilbert D, Jenkins N, Amara S. Mouse excitatory amino acid transporter EAAT2: isolation, characterization, and proximity to neuroexcitability loci on mouse chromosome 2. Genomics. 1994;24:218-24 pubmed
  64. Shenoy M, Goluszko E, Christadoss P. The pathogenic role of acetylcholine receptor alpha chain epitope within alpha 146-162 in the development of experimental autoimmune myasthenia gravis in C57BL6 mice. Clin Immunol Immunopathol. 1994;73:338-43 pubmed
    ..Thus, the data provided evidence for epitope within AChR alpha 146-162 as one of the EAMG-inducing pathogenic epitopes in B6 mice. ..
  65. Pilz A, Prohaska R, Peters J, Abbott C. Genetic linkage analysis of the Ak1, Col5a1, Epb7.2, Fpgs, Grp78, Pbx3, and Notch1 genes in the region of mouse chromosome 2 homologous to human chromosome 9q. Genomics. 1994;21:104-9 pubmed
    ..Two of the reference loci for MMU2, D2Mit1 and Acra, were also mapped in the same cross to facilitate comparisons with existing maps...
  66. Qu S, Niswender K, Ji Q, van der Meer R, Keeney D, Magnuson M, et al. Polydactyly and ectopic ZPA formation in Alx-4 mutant mice. Development. 1997;124:3999-4008 pubmed
    ..The results identify Alx-4 as a determinant of anterior-posterior positional identity in the limb and a component of a regulatory program that restricts ZPA formation to the posterior limb bud mesenchyme. ..
  67. Chen E, Liang X, Yee S, Geier E, Stocker S, Chen L, et al. Targeted disruption of organic cation transporter 3 attenuates the pharmacologic response to metformin. Mol Pharmacol. 2015;88:75-83 pubmed publisher
    ..These findings suggest that OCT3 plays an important role in the absorption and elimination of metformin and that the transporter is a critical determinant of metformin bioavailability, clearance, and pharmacologic action. ..
  68. Luo Z, Pincon Raymond M, Taylor P. Acetylcholinesterase and nicotinic acetylcholine receptor expression diverge in muscular dysgenic mice lacking the L-type calcium channel. J Neurochem. 1996;67:111-8 pubmed
    ..The differential influence of muscle dysgenesis on mRNA levels of AChE and nAChRs provides additional evidence for distinct mechanisms of regulation of these two proteins. ..
  69. Kraig E, Pierce J, Clarkin K, Standifer N, Currier P, Wall K, et al. Restricted T cell receptor repertoire for acetylcholine receptor in murine myasthenia gravis. J Neuroimmunol. 1996;71:87-95 pubmed
    ..The utilization of multiple T cell receptor V beta genes may contribute to the inability to inhibit EAMG by elimination of V beta 6+ T cells. ..
  70. Nagata K, Kiryu Seo S, Maeda M, Yoshida K, Morita T, Kiyama H. Damage-induced neuronal endopeptidase is critical for presynaptic formation of neuromuscular junctions. J Neurosci. 2010;30:6954-62 pubmed publisher
    ..These data suggest that DINE is a crucial molecule in distal axonal arborization into muscle to establish neuromuscular junctions. ..
  71. Xu R, Salpeter M. Acetylcholine receptors in innervated muscles of dystrophic mdx mice degrade as after denervation. J Neurosci. 1997;17:8194-200 pubmed
    ..These results suggest that dystrophin or an intact cytoskeletal complex may be required for neuronal stabilization of Rs receptors at the adult neuromuscular junctions. ..
  72. Goldman D, Deneris E, Luyten W, Kochhar A, Patrick J, Heinemann S. Members of a nicotinic acetylcholine receptor gene family are expressed in different regions of the mammalian central nervous system. Cell. 1987;48:965-73 pubmed
    ..Members of this gene family are expressed in different regions of the central nervous system and, presumably, code for subtypes of the nicotinic acetylcholine receptor. ..
  73. 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
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