CHRNE

Summary

Gene Symbol: CHRNE
Description: cholinergic receptor nicotinic epsilon subunit
Alias: ACHRE, CMS1D, CMS1E, CMS2A, CMS4A, CMS4B, CMS4C, FCCMS, SCCMS, acetylcholine receptor subunit epsilon, AchR epsilon subunit, acetylcholine receptor, nicotinic, epsilon (muscle), cholinergic receptor, nicotinic epsilon, cholinergic receptor, nicotinic, epsilon (muscle), cholinergic receptor, nicotinic, epsilon polypeptide
Species: human
Products:     CHRNE

Top Publications

  1. Brenner H, Rotzler S, Kues W, Witzemann V, Sakmann B. Nerve-dependent induction of AChR epsilon-subunit gene expression in muscle is independent of state of differentiation. Dev Biol. 1994;165:527-36 pubmed
    ..Thus, both nerve and muscle remain plastic in their respective abilities to induce and express the synapse-specific combination of AChR subunit genes. ..
  2. Ohno K, Wang H, Milone M, Bren N, Brengman J, Nakano S, et al. Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. Neuron. 1996;17:157-70 pubmed
    ..Each patient had two heteroallelic AChR epsilon subunit gene mutations: a common epsilon P121L mutation, a signal peptide mutation (epsilon G-8R) (patient 1), and ..
  3. Ragheb S, Mohamed M, Lisak R. Myasthenia gravis patients, but not healthy subjects, recognize epitopes that are unique to the epsilon-subunit of the acetylcholine receptor. J Neuroimmunol. 2005;159:137-45 pubmed
    ..Differences between the epsilon- and gamma-chains may be important in the development of MG, because only MG patients respond to epitopes that are unique to the epsilon-subunit. ..
  4. Fucile S, Sucapane A, Grassi F, Eusebi F, Engel A. The human adult subtype ACh receptor channel has high Ca2+ permeability and predisposes to endplate Ca2+ overloading. J Physiol. 2006;573:35-43 pubmed
    ..However, the intrinsically high Ca2+ permeability of human AChRs probably predisposes to development of the endplate myopathy when opening events of the AChR channel are prolonged by altered AChR-channel kinetics. ..
  5. Richard P, Gaudon K, Fournier E, Jackson C, Bauché S, Haddad H, et al. A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome. Neuromuscul Disord. 2007;17:409-14 pubmed
    ..been reported to be partly due to abnormalities of the acetylcholine receptor, and particularly to mutations in CHRNE, the gene encoding the acetylcholine receptor epsilon-subunit...
  6. Richard P, Gaudon K, Haddad H, Ammar A, Genin E, Bauche S, et al. The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa. Neurology. 2008;71:1967-72 pubmed publisher
    ..A single truncating mutation (epsilon1293insG) in the acetylcholine receptor epsilon subunit gene (CHRNE) was most often identified in CMS families originating from North Africa and was possibly a founder mutation.
  7. Ohno K, Quiram P, Milone M, Wang H, Harper M, Pruitt J, et al. Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. Hum Mol Genet. 1997;6:753-66 pubmed
    ..The consequences of the endplate AChR deficiency are mitigated by persistent expression of gamma-AChR, changes in the release of transmitter quanta and appearance of multiple endplate regions on the muscle fiber. ..
  8. Engel A, Ohno K, Bouzat C, Sine S, Griggs R. End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit. Ann Neurol. 1996;40:810-7 pubmed
    ..Expression of gamma-AChR at the EPs may serve as the means of phenotypic rescue from potentially fatal nonsense mutations in the epsilon-subunit gene. ..
  9. Abicht A, Stucka R, Karcagi V, Herczegfalvi A, Horvath R, Mortier W, et al. A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin. Neurology. 1999;53:1564-9 pubmed
    ..Mutation analysis of the acetylcholine receptor (AChR) epsilon subunit gene in patients with sporadic or autosomal recessive congenital myasthenic syndromes (CMS)...

More Information

Publications70

  1. Li W, Hu N, Wang Z, Yu K, Su H, Wang L, et al. Genetic variants in epidermal growth factor receptor pathway genes and risk of esophageal squamous cell carcinoma and gastric cancer in a Chinese population. PLoS ONE. 2013;8:e68999 pubmed publisher
    ..72), but gene-level analyses suggested associations between GNAI3, CHRNE, PAK4, WASL, and ITCH, and ESCC (P<0.05)...
  2. Finsterer J. Congenital myasthenic syndromes. Orphanet J Rare Dis. 2019;14:57 pubmed publisher
    ..The most common causative genes are CHAT, COLQ, RAPSN, CHRNE, DOK7, and GFPT1...
  3. Angelini C, Lispi L, Salvoro C, Mostacciuolo M, Vazza G. Clinical and genetic characterization of an Italian family with slow-channel syndrome. Neurol Sci. 2019;40:503-507 pubmed publisher
    ..721C>T, p.L241F) in the ε subunit of the acetylcholine receptor (CHRNE) that was consistent with clinical weakness in all patients...
  4. Engel A. Genetic basis and phenotypic features of congenital myasthenic syndromes. Handb Clin Neurol. 2018;148:565-589 pubmed publisher
    ..mutations in genes encoding subunits of the muscle form of the acetylcholine receptor (CHRNA1, CHRNB, CHRNAD1, and CHRNE)...
  5. Panossian A, Seo E, Efferth T. Novel molecular mechanisms for the adaptogenic effects of herbal extracts on isolated brain cells using systems biology. Phytomedicine. 2018;50:257-284 pubmed publisher
    ..of genes encoding neurohormones CRH, GNRH, UCN, G-protein-coupled and other transmembrane receptors TLR9, PRLR, CHRNE, GP1BA, PLXNA4, a ligand-dependent nuclear receptor RORA, transmembrane channels, transcription regulators FOS, ..
  6. Zink F, Magnusdottir D, Magnusson O, Walker N, Morris T, Sigurdsson A, et al. Insights into imprinting from parent-of-origin phased methylomes and transcriptomes. Nat Genet. 2018;50:1542-1552 pubmed publisher
    ..We find examples of polymorphic imprinted methylation unrelated (at VTRNA2-1 and PARD6G) or related (at CHRNE) to nearby SNP genotypes...
  7. Seaberg B, Henslee G, Wang S, Paez Colasante X, Landreth G, Rimer M. Muscle-derived extracellular signal-regulated kinases 1 and 2 are required for the maintenance of adult myofibers and their neuromuscular junctions. Mol Cell Biol. 2015;35:1238-53 pubmed publisher
    ..Evidence of partial denervation was found in the sternomastoid but not the tibialis anterior. Thus, myofiber ERK1/2 are differentially required for the maintenance of myofibers and neuromuscular synapses in adult mice. ..
  8. Kamens H, Corley R, Richmond P, Darlington T, DOWELL R, Hopfer C, et al. Evidence for Association Between Low Frequency Variants in CHRNA6/CHRNB3 and Antisocial Drug Dependence. Behav Genet. 2016;46:693-704 pubmed publisher
    ..The capture, sequencing, and analysis of all variants in 16 CHRN genes (CHRNA1-7, 9, 10, CHRNB1-4, CHRND, CHRNG, CHRNE) were performed independently for each subject in each sample...
  9. Mao C, Yang J, Zhang S, Luo H, Song B, Liu Y, et al. Exome capture sequencing identifies a novel CCM1 mutation in a Chinese family with multiple cerebral cavernous malformations. Int J Neurosci. 2016;126:1071-6 pubmed publisher
    ..Previous studies of familial CCMs (FCCMs) have mainly reported in Hispanic and Caucasian cases...
  10. Belousova O, Okishev D, Ignatova T, Balashova M, Boulygina E. Hereditary Multiple Cerebral Cavernous Malformations Associated with Wilson Disease and Multiple Lipomatosis. World Neurosurg. 2017;105:1034.e1-1034.e6 pubmed publisher
    We report on a patient with 2 Mendelian diseases-symptomatic multiple familial cerebral cavernous malformations (FCCMs) and Wilson disease...
  11. Ito K, Ohkawara B, Yagi H, Nakashima H, Tsushima M, Ota K, et al. Lack of Fgf18 causes abnormal clustering of motor nerve terminals at the neuromuscular junction with reduced acetylcholine receptor clusters. Sci Rep. 2018;8:434 pubmed publisher
    ..5 and in adults. Fgf18-/- mice at E18.5 showed decreased expressions of the NMJ-specific Chrne and Colq genes in the diaphragm...
  12. Kalantari Dehaghi M, Anhalt G, Camilleri M, Chernyavsky A, Chun S, Felgner P, et al. Pemphigus vulgaris autoantibody profiling by proteomic technique. PLoS ONE. 2013;8:e57587 pubmed publisher
    ..of test patients' sera were proteins encoded by the DSC1, DSC3, ATP2C1, PKP3, CHRM3, COL21A1, ANXA8L1, CD88 and CHRNE genes...
  13. Santos E, Moreira I, Coutinho E, Gonçalves G, Lopes C, Lopes Lima J, et al. Congenital myasthenic syndrome due to mutation in CHRNE gene with clinical worsening and thymic hyperplasia attributed to association with autoimmune-myasthenia gravis. Neuromuscul Disord. 2015;25:928-31 pubmed publisher
    We report a patient with congenital myasthenic syndrome (CMS) due to mutation in CHRNE with symptoms since the age of 4; mild to moderate fatigable weakness involved mainly ocular, bulbar and limb muscles; functional impact of the ..
  14. Rinz C, Lennon V, James F, Thoreson J, Tsai K, Starr Moss A, et al. A CHRNE frameshift mutation causes congenital myasthenic syndrome in young Jack Russell Terriers. Neuromuscul Disord. 2015;25:921-7 pubmed publisher
    ..Loci encoding the 5 AChR subunits were evaluated using microsatellite markers, and CHRNB1 and CHRNE were identified as candidate genes...
  15. Lin X, Meng G, Liu X, Yu T, Bai C, Fei X, et al. The Differentially Expressed Genes of Human Sporadic Cerebral Cavernous Malformations. World Neurosurg. 2018;113:e247-e270 pubmed publisher
    ..of sporadic cerebral cavernous malformations (SCCM) comprehensively, we analyzed gene expression profiles in SCCMs by gene microarray...
  16. Strickland C, Eberhardt S, Bartlett M, Nelson J, Kim H, Morrison L, et al. Familial Cerebral Cavernous Malformations Are Associated with Adrenal Calcifications on CT Scans: An Imaging Biomarker for a Hereditary Cerebrovascular Condition. Radiology. 2017;284:443-450 pubmed publisher
    ..calcifications seen at computed tomography (CT) are associated with familial cerebral cavernous malformations (fCCMs) in carriers of the CCM1 Common Hispanic Mutation...
  17. Chang T, Cossins J, Beeson D. A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report. BMC Neurol. 2016;16:195 pubmed
    ..Acetylcholine receptor epsilon (?) subunit (CHRNE) gene mutations account for about 30-50 % of genetically diagnosed cases...
  18. Natera de Benito D, Domínguez Carral J, Muelas N, Nascimento A, Ortez C, Jaijo T, et al. Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up. Neuromuscul Disord. 2016;26:789-795 pubmed publisher
    Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders. Mutations in CHRNE are one of the most common cause of them and the ɛ1267delG frameshifting mutation is described to be present on at least one ..
  19. Kariminejad A, Almadani N, Khoshaeen A, Olsson B, Moslemi A, Tajsharghi H. Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome. BMC Genet. 2016;17:71 pubmed publisher
    ..receptor (AChR) is a transmembrane protein with five different subunits, coded by CHRNA1, CHRNB, CHRND and CHRNG/CHRNE. The gamma subunit of AChR encoded by CHRNG is expressed during early foetal development, whereas in the adult, ..
  20. Durmus H, Shen X, Serdaroğlu Oflazer P, Kara B, Parman Gulsen Y, Ozdemir C, et al. Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up. Neuromuscul Disord. 2018;28:315-322 pubmed publisher
    ..1219 + 2T > G (12/51) and c.1327delG (6/51) in CHRNE. Four of our 5 kinships with AChE deficiency carried p...
  21. Yagi H, Ohkawara B, Nakashima H, Ito K, Tsushima M, Ishii H, et al. Zonisamide Enhances Neurite Elongation of Primary Motor Neurons and Facilitates Peripheral Nerve Regeneration In Vitro and in a Mouse Model. PLoS ONE. 2015;10:e0142786 pubmed publisher
    ..protective against denervation-induced muscle degeneration in tibialis anterior, and increased gene expression of Chrne, Colq, and Rapsn, which are specifically expressed at the neuromuscular junction...
  22. Estephan E, Sobreira C, Dos Santos A, Tomaselli P, Marques W, Ortega R, et al. A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome. J Neurol. 2018;265:708-713 pubmed publisher
    The most common causes of congenital myasthenic syndromes (CMS) are CHRNE mutations, and some pathogenic allelic variants in this gene are especially frequent in certain ethnic groups...
  23. Shelton G. Myasthenia gravis and congenital myasthenic syndromes in dogs and cats: A history and mini-review. Neuromuscul Disord. 2016;26:331-4 pubmed publisher
    ..Mutations have been reported in CHRNE, COLQ and CHAT in canine CMS. A form of COLQ deficient CMS has recently been reported in cats.
  24. Sieb J, Kraner S, Rauch M, Steinlein O. Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by epsilon-AChR subunit truncating mutations. Hum Genet. 2000;107:160-4 pubmed
    ..were heteroallelic for a epsilon911delT and a epsilonIVS4+1G-->A mutation within the AChR epsilon-subunit gene (CHRNE)...
  25. Beeson D, Webster R, Ealing J, Croxen R, Brownlow S, Brydson M, et al. Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes. Ann N Y Acad Sci. 2003;998:114-24 pubmed
    ..It was found that mutations within muscle AChRs are the most common cause of CMS. The majority are located within the epsilon-subunit gene and result in AChR deficiency. ..
  26. Di Castro A, Martinello K, Grassi F, Eusebi F, Engel A. Pathogenic point mutations in a transmembrane domain of the epsilon subunit increase the Ca2+ permeability of the human endplate ACh receptor. J Physiol. 2007;579:671-7 pubmed
    ..In this paper we investigate the effects of two pathogenic point mutations in the M2 transmembrane segment AChR epsilon subunit, epsilonT264P and epsilonV259F, that cause slow-channel syndromes (SCS)...
  27. Shen X, Okuno T, Milone M, Otsuka K, Takahashi K, Komaki H, et al. Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating. Hum Mutat. 2016;37:1051-9 pubmed publisher
    ..Pts 2 and 3 carry the same mutation at an equivalent site in the ? subunit (CHRNE), ?V265A (p.Val285Ala)...
  28. Bonifati D, Willcox N, Vincent A, Beeson D. Lack of association between acetylcholine receptor epsilon polymorphisms and early-onset myasthenia gravis. Muscle Nerve. 2004;29:436-9 pubmed
    ..These data provide no evidence that heteroallelic mutations or polymorphisms in the AChR epsilon subunit are involved in the development of autoimmune early-onset MG but raise issues for future studies.
  29. Blakey T, Michaels J, Guo L, Hodshon A, Shelton G. Congenital Myasthenic Syndrome in a Mixed Breed Dog. Front Vet Sci. 2017;4:173 pubmed publisher
    ..Evaluation for the CHRNE mutation previously identified as the causative mutation of CMS in Jack Russell Terriers was performed and was ..
  30. Kindler C, Verotta D, Gray A, Gropper M, Yost C. Additive inhibition of nicotinic acetylcholine receptors by corticosteroids and the neuromuscular blocking drug vecuronium. Anesthesiology. 2000;92:821-32 pubmed
    ..The enhanced neuromuscular blockade produced when corticosteroids are combined with vecuronium may augment pharmacologic denervation and contribute to the pathophysiology of prolonged weakness observed in some critically ill patients. ..
  31. Faber C, Molenaar P, Vles J, Bonifati D, Verschuuren J, van Doorn P, et al. AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands. J Neurol. 2009;256:1719-23 pubmed publisher
  32. Aharoni S, Sadeh M, Shapira Y, Edvardson S, Daana M, Dor Wollman T, et al. Congenital myasthenic syndrome in Israel: Genetic and clinical characterization. Neuromuscul Disord. 2017;27:136-140 pubmed publisher
    ..Mutations in CHRNE were identified in 7 kinships. Less commonly detected mutations were in CHRND, CHAT, GFPT1 and DOK7...
  33. Piccari V, Deflorio C, Bigi R, Grassi F, Fucile S. Modulation of the Ca(2+) permeability of human endplate acetylcholine receptor-channel. Cell Calcium. 2011;49:272-8 pubmed publisher
  34. Beeson D, Brydson M, Betty M, Jeremiah S, Povey S, Vincent A, et al. Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits. Eur J Biochem. 1993;215:229-38 pubmed
    ..Expression of the alpha-, beta-, gamma-, delta- and epsilon-subunit cRNAs in rabbit-reticulocyte lysates followed by analysis on SDS/PAGE show glycosylated proteins with apparent molecular masses of 44-60 kDa. ..
  35. Uchitel O, Engel A, Walls T, Nagel A, Atassi M, Bril V. Congenital myasthenic syndromes: II. Syndrome attributed to abnormal interaction of acetylcholine with its receptor. Muscle Nerve. 1993;16:1293-301 pubmed
  36. 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. ..
  37. Hantai D, Richard P, Koenig J, Eymard B. Congenital myasthenic syndromes. Curr Opin Neurol. 2004;17:539-51 pubmed
    ..In this article, a strategy that leads to the diagnosis of congenital myasthenic syndromes is presented, and recent advances in the clinical, genetic and molecular aspects of congenital myasthenic syndrome are outlined...
  38. Ravel Chapuis A, Vandromme M, Thomas J, Schaeffer L. Postsynaptic chromatin is under neural control at the neuromuscular junction. EMBO J. 2007;26:1117-28 pubmed
    ..Here we demonstrate that upon activation, GABP recruits the histone acetyl transferase (HAT) p300 on the AChR epsilon subunit promoter, whereas it rather recruits the histone deacetylase HDAC1 when the promoter is not activated...
  39. Morar B, Gresham D, Angelicheva D, Tournev I, Gooding R, Guergueltcheva V, et al. Mutation history of the roma/gypsies. Am J Hum Genet. 2004;75:596-609 pubmed
  40. Ohno K, Hutchinson D, Milone M, Brengman J, Bouzat C, Sine S, et al. Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit. Proc Natl Acad Sci U S A. 1995;92:758-62 pubmed
    ..This observation raises the possibility that mutations involving subunits of other ligand-gated channels may also exist and be the basis of various other neurologic or psychiatric disorders. ..
  41. Gomez C, Gammack J. A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome. Neurology. 1995;45:982-5 pubmed
    ..We propose that this mutation may be responsible for the disease. ..
  42. Lobos E. Five subunit genes of the human muscle nicotinic acetylcholine receptor are mapped to two linkage groups on chromosomes 2 and 17. Genomics. 1993;17:642-50 pubmed
    ..The linkage analysis placed the nAChR genes at two sites on chromosome 2q about equidistant from the marker CRYGP1, with the alpha-nAChR gene about 27 cM proximal and the gamma/delta-nAChR gene complex about 31 cM distal to CRYGP1. ..
  43. Croxen R, Newland C, Betty M, Vincent A, Newsom Davis J, Beeson D. Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome. Ann Neurol. 1999;46:639-47 pubmed
    ..Our results indicate that for some AChR deficiency mutations located between M3 and M4, the retention of intron 11 in the epsilon-subunit mRNA transcripts may rescue adult AChR function. ..
  44. Fidzianska A, Ryniewicz B, Shen X, Engel A. IBM-type inclusions in a patient with slow-channel syndrome caused by a mutation in the AChR epsilon subunit. Neuromuscul Disord. 2005;15:753-9 pubmed
    ..Molecular genetic studies revealed a novel valine to phenylalanine mutation (epsilonV259F) in the M2 domain of the acetylcholine receptor. Coexistence of the slow-channel syndrome with a feature of IBM has not been observed before...
  45. MacLennan C, Vincent A, Marx A, Willcox N, Gilhus N, Newsom Davis J, et al. Preferential expression of AChR epsilon-subunit in thymomas from patients with myasthenia gravis. J Neuroimmunol. 2008;201-202:28-32 pubmed publisher
    ..The greater abundance of mRNA for AChR epsilon-subunit than for other subunits suggests that the AChR epsilon-subunit may play a distinctive role in autosensitization in MG-associated thymomas, particularly those of type A or AB. ..
  46. Saccone N, Saccone S, Hinrichs A, Stitzel J, Duan W, Pergadia M, et al. Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes. Am J Med Genet B Neuropsychiatr Genet. 2009;150B:453-66 pubmed publisher
  47. Maselli R, Arredondo J, Cagney O, Mozaffar T, Skinner S, Yousif S, et al. Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE. Clin Genet. 2011;80:444-51 pubmed publisher
    ..In addition, mutational analysis of CHRNE revealed a homozygous 1293insG, which is a well-known low-expressor receptor mutation...
  48. Chevessier F, Peter C, Mersdorf U, Girard E, Krejci E, McArdle J, et al. A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR ?L221F mutation. Neurobiol Dis. 2012;45:851-61 pubmed publisher
    ..Altogether, this mouse model provides new insight into the pathophysiology of congenital myasthenia and serves as a new tool for deciphering signaling pathways induced by excitotoxicity at peripheral synapses. ..
  49. Salih M, Oystreck D, Al Faky Y, Kabiraj M, Omer M, Subahi E, et al. Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia. J Neuroophthalmol. 2011;31:42-7 pubmed publisher
    ..syndrome due to homozygous mutations of the gene coding for the epsilon subunit of the acetylcholine receptor (CHRNE)...
  50. Dan I, Watanabe N, Kajikawa E, Ishida T, Pandey A, Kusumi A. Overlapping of MINK and CHRNE gene loci in the course of mammalian evolution. Nucleic Acids Res. 2002;30:2906-10 pubmed
    ..We have found a rare instance of exon overlapping involving CHRNE and MINK gene loci on chromosome 17 in humans...
  51. Zouridakis M, Zisimopoulou P, Eliopoulos E, Poulas K, Tzartos S. Design and expression of human alpha7 nicotinic acetylcholine receptor extracellular domain mutants with enhanced solubility and ligand-binding properties. Biochim Biophys Acta. 2009;1794:355-66 pubmed publisher
  52. del Barrio L, Martín de Saavedra M, Romero A, Parada E, Egea J, Avila J, et al. Neurotoxicity induced by okadaic acid in the human neuroblastoma SH-SY5Y line can be differentially prevented by ?7 and ?2* nicotinic stimulation. Toxicol Sci. 2011;123:193-205 pubmed publisher
    ..Therefore, targeting nAChR could offer a strategy for reducing neurodegeneration secondary to hyperphosphorylation of protein ?. ..
  53. Wang H, Ohno K, Milone M, Brengman J, Evoli A, Batocchi A, et al. Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome. J Gen Physiol. 2000;116:449-62 pubmed
    ..The findings further suggest that the fundamental gating mechanism of the AChR channel can be explained by a corrugated energy landscape superimposed on a steeply sloped energy well...
  54. Natera de Benito D, Topf A, Vilchez J, Gonzalez Quereda L, Domínguez Carral J, Diaz Manera J, et al. Molecular characterization of congenital myasthenic syndromes in Spain. Neuromuscul Disord. 2017;27:1087-1098 pubmed publisher
    ..Thirty-six mutations in the CHRNE, RAPSN, COLQ, GFPT1, DOK7, CHRNG, GMPPB, CHAT, CHRNA1, and CHRNB1 genes were identified in our patients, with five ..
  55. Hatton C, Shelley C, Brydson M, Beeson D, Colquhoun D. Properties of the human muscle nicotinic receptor, and of the slow-channel myasthenic syndrome mutant epsilonL221F, inferred from maximum likelihood fits. J Physiol. 2003;547:729-60 pubmed
  56. Ohno K, Milone M, Shen X, Engel A. A frameshifting mutation in CHRNE unmasks skipping of the preceding exon. Hum Mol Genet. 2003;12:3055-66 pubmed
    A frameshifting 7 bp deletion (epsilon553del7) in exon 7 of CHRNE encoding the acetylcholine receptor epsilon subunit, observed in seven congenital myasthenic syndrome patients, enhances expression of an aberrantly spliced transcript ..
  57. Müller J, Stucka R, Neudecker S, Zierz S, Schmidt C, Huebner A, et al. An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome. Neurology. 2005;65:463-5 pubmed
    Reported is a patient with a congenital myasthenic syndrome due to two compound heterozygous mutations of the CHRNE gene...
  58. Nichols P, Croxen R, Vincent A, Rutter R, Hutchinson M, Newsom Davis J, et al. Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome. Ann Neurol. 1999;45:439-43 pubmed
    ..of congenital myasthenic syndrome and in most cases results from mutations within the coding region of the AChR epsilon subunit. However, studies in mice have established that synapse-specific expression of AChR is dependent on a ..
  59. Yu X, Hall Z. Extracellular domains mediating epsilon subunit interactions of muscle acetylcholine receptor. Nature. 1991;352:64-7 pubmed
    ..The epsilon beta chimera can substitute for the epsilon but not the beta subunit in the oligomeric receptor, indicating that the alpha subunit specifically recognizes an extracellular domain of the epsilon subunit. ..
  60. Bruhova I, Auerbach A. Subunit symmetry at the extracellular domain-transmembrane domain interface in acetylcholine receptor channel gating. J Biol Chem. 2010;285:38898-904 pubmed publisher
    ..The energy transfer through the AChR during gating appears to mainly involve Glu(45), but only in the ?-subunits. ..