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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Dec 2016.

Cholinergic receptor, nicotinic, epsilon

CHRNE, AChR epsilon subunit
Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. [provided by RefSeq, Sep 2009] (from NCBI)
Top mentioned proteins: 43-kDa, acetylcholinesterase, HAD, ColQ, AGE
Papers on CHRNE
Congenital myasthenic syndrome due to mutation in CHRNE gene with clinical worsening and thymic hyperplasia attributed to association with autoimmune-myasthenia gravis.
Leite et al., Porto, Portugal. In Neuromuscul Disord, Dec 2015
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 disease in their development and physical activity was modest.
A CHRNE frameshift mutation causes congenital myasthenic syndrome in young Jack Russell Terriers.
Shelton et al., United States. In Neuromuscul Disord, Dec 2015
Loci encoding the 5 AChR subunits were evaluated using microsatellite markers, and CHRNB1 and CHRNE were identified as candidate genes.
Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes.
Beeson et al., In Neurology, Oct 2015
OBJECTIVE: To evaluate the response to salbutamol and ephedrine in the treatment of congenital myasthenic syndromes due to CHRNE mutations causing severe acetylcholine receptor (AChR)deficiency.
Zonisamide Enhances Neurite Elongation of Primary Motor Neurons and Facilitates Peripheral Nerve Regeneration In Vitro and in a Mouse Model.
Ohno et al., Nagoya, Japan. In Plos One, 2014
At 8 weeks after surgery, zonisamide was 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.
How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia.
Jayawant et al., Oxford, United Kingdom. In Arch Dis Child, 2014
CHRNE, RAPSN and DOK7 were the most commonly identified mutations.
Genes involved in muscle lipid composition in 15 European Bos taurus breeds.
GeMQual Consortium et al., Madrid, Spain. In Anim Genet, 2013
Several genes - ALDH2, CHRNE, CRHR2, DGAT1, IGFBP3, NEB, SOCS2, SUSP1, TCF12 and FOXO1 - also were found to be associated with both lipid and organoleptic traits although with smaller effect.
[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience].
Membres du réseau national Syndromes Myasthéniques Congénitaux et al., Paris, France. In Rev Neurol (paris), 2013
The long-term prognosis of CMS was studied in a series of 79 patients recruited with the following gene mutations: CHRNA; CHRNE; DOK7; COLQ; RAPSN; AGRN; and MUSK.
Gene Co-expression Analysis to Characterize Genes Related to Marbling Trait in Hanwoo (Korean) Cattle.
Kim et al., Suwŏn, South Korea. In Asian-australas J Anim Sci, 2013
From functional enrichment and relationship analysis of the red module, the pathway hub genes (IL6, CHRNE, RB1, INHBA and NPPA) have a direct interaction relationship and share the biological functions related to fat or muscle, such as adipogenesis or muscle growth.
Congenital myasthenic syndromes: Clinical and molecular report on 7 Sicilian patients.
Falsaperla et al., Catania, Italy. In J Pediatr Neurosci, 2013
Cholinergic receptor, nicotinic, epsilon (CHRNE) gene mutations were mainly reported.
Pemphigus vulgaris autoantibody profiling by proteomic technique.
Grando et al., Irvine, United States. In Plos One, 2012
The top 10 antigens recognized by the majority of test patients' sera were proteins encoded by the DSC1, DSC3, ATP2C1, PKP3, CHRM3, COL21A1, ANXA8L1, CD88 and CHRNE genes.
Genetic variants in epidermal growth factor receptor pathway genes and risk of esophageal squamous cell carcinoma and gastric cancer in a Chinese population.
Taylor et al., Bethesda, United States. In Plos One, 2012
For ESCC, we did not observe a significant pathway-level association (P = 0.72), but gene-level analyses suggested associations between GNAI3, CHRNE, PAK4, WASL, and ITCH, and ESCC (P<0.05).
A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation.
Witzemann et al., Heidelberg, Germany. In Neurobiol Dis, 2012
This study provied that new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR epsilonL221F mutation.
Congenital myasthenic syndrome: a brief review.
Werneck et al., Curitiba, Brazil. In Pediatr Neurol, 2012
Therefore, genetic testing may be necessary to identify specific mutations in CHAT, COLQ, LAMB2, CHRNA, CHRNB, CHRND, CHRNE, CHRNG, RAPSN, DOK7, MUSK, AGRN, SCN4A, GFPT1, or PLEC1 genes.
Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE.
Wollmann et al., Davis, United States. In Clin Genet, 2011
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.
Neurotoxicity induced by okadaic acid in the human neuroblastoma SH-SY5Y line can be differentially prevented by α7 and β2* nicotinic stimulation.
López et al., Madrid, Spain. In Toxicol Sci, 2011
Targeting nAChR could offer a strategy for reducing neurodegeneration secondary to hyperphosphorylation of protein tau.
Modulation of the Ca(2+) permeability of human endplate acetylcholine receptor-channel.
Fucile et al., Roma, Italy. In Cell Calcium, 2011
The mutations in the varepsilon subunit altered Ca(2+) permeability of AChR-channels, with varepsilon(L269F) increasing P(f) and varepsilon(I257F) decreasing it.
Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.
Bosley et al., Riyadh, Saudi Arabia. In J Neuroophthalmol, 2011
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.
Splicing abnormalities in congenital myasthenic syndromes.
Engel et al., Nagoya, Japan. In Acta Myol, 2005
A 7-bp deletion in CHRNE exon 7 causes skipping of the preceding 101-bp exon 6.
Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction.
Sine et al., Rochester, United States. In Ann N Y Acad Sci, 2003
Most low-expressor mutations reside in the AChR epsilon subunit and are partially compensated by residual expression of the fetal-type gamma subunit.
Congenital Myasthenic Syndromes
Lochmüller et al., Seattle, United States. In Unknown Journal, 2003
Mutations in one of multiple genes encoding proteins expressed at the neuromuscular junction are currently known to be associated with subtypes of CMS, including the genes encoding different subunits of the acetylcholine receptor: CHRNE (εAChR subunit) .
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