Recombinant Human Acetylcholine receptor subunit epsilon (CHRNE)

1. Study found a pretest probability of CHRNE c.130dupG mutation of 31.9% in at least one allele of CMS patients, and when considering only homozygous patients the percentage is still high (26.4%); percentages notably increase ifonly patients with impaired eye movement and improvement of symptoms with pyridostigmine are considered. PMID: 29383513
2. Specific mutations in COLQ, RAPSN, and CHRNE occur in specific ethnic populations in Israel and should be taken into account when the diagnosis of congenital myasthenic syndrome is suspected.. PMID: 28024842
3. mutational analysis of CHRNE revealed a homozygous 1293insG, which is a well-known low-expressor receptor mutation in patients with epidermolysis bullosa simplex and congenital myasthenic syndrome. PMID: 21175599
4. This study provied that new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR epsilonL221F mutation. PMID: 22178625
5. Three siblings have a clinical history and examination findings typical of homozygous CHRNE mutations; clinical presentation of congenital myasthenia subtypes is variable, and accurate genotyping is essential in choosing appropriate treatment. PMID: 21150643
6. Targeting nAChR could offer a strategy for reducing neurodegeneration secondary to hyperphosphorylation of protein tau. PMID: 21715663
7. The mutations in the varepsilon subunit altered Ca(2+) permeability of AChR-channels, with varepsilon(L269F) increasing P(f) and varepsilon(I257F) decreasing it. PMID: 21470676
8. analysis of symmetry at the extracellular domain-transmembrane domain interface in acetylcholine receptor channel gating PMID: 20864527
9. two binding sites differ by roughly 10-fold in the affinity of the shut receptor for ACh in the wild type, and that in the epsilonL221F mutation the lower affinity is increased so the sites become more similar. PMID: 12562900
10. There was deletion in exon 7 of CHRNE. We cloned the entire CHRNE spanning 12 exons and 11 introns and expressed it in COS cells PMID: 14532324
11. 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. PMID: 14592868
12. AChR epsilon-chain peptides are tested for their in vitro ability to activate peripheral blood mononuclear leukocytes of myasthenia gravis (MG) patients; MG patient cells are stimulated, whereas cells from nonmyasthenic subjects do not respond. PMID: 15652413
13. Reported is a patient with a congenital myasthenic syndrome due to two compound heterozygous mutations of the CHRNE gene. T PMID: 16087917
14. a patient with a slow-channel congenital myasthenic syndrome who carries a novel slow-channel mutation(novel valine to phenylalanine mutation ) in the epsilon subunit of the acetylcholine receptor. PMID: 16198106
15. 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 PMID: 16527851
16. enhanced Ca2+ permeability of the mutant receptors overrides the protective effect of desensitization and, together with the prolonged opening events of the AChR channel, is important in slow channel syndromes PMID: 17272341
17. Upon activation of AChR, 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. PMID: 17304221
18. This is the first synonymous mutation in CHRNE known to generate a cryptic splice site, and mRNA quantification strongly suggests that it is the disease-causing mutation. PMID: 17363247
19. 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. PMID: 18657869
20. These results strongly support the hypothesis that epsilon1293insG mutations in a myasthenic syndrome derives from an ancient single founder event in the North African population. PMID: 19064877
21. We have identified mutations within the acetylcholine receptor (AChR) epsilon-subunit gene underlying congenital myasthenic syndromes in nine patients (seven kinships) of Dutch origin. PMID: 19544078

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HGNC: 1966

OMIM: 100725

KEGG: hsa:1145

STRING: 9606.ENSP00000293780

UniGene: Hs.654535