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

Top Publications

  1. ncbi Nerve-dependent induction of AChR epsilon-subunit gene expression in muscle is independent of state of differentiation
    H R Brenner
    Physiologisches Institut, Universitat Basel, Switzerland
    Dev Biol 165:527-36. 1994
  2. ncbi Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit
    K Ohno
    Muscle Research Laboratory, Department of Neurology, Mayo Foundation, Rochester, Minnesota 55905, USA
    Neuron 17:157-70. 1996
  3. pmc Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating
    Steven M Sine
    Receptor Biology Laboratory, Department of Physiology and Biophysics, and Mayo Foundation, Rochester, MN 55905, USA
    J Gen Physiol 120:483-96. 2002
  4. ncbi Neuregulin-1 induces expression of Egr-1 and activates acetylcholine receptor transcription through an Egr-1-binding site
    Larry Fromm
    Center for Medical Education, Ball State University and Indiana University School of Medicine, Muncie, IN 47306, USA
    J Mol Biol 339:483-94. 2004
  5. ncbi Myasthenia gravis patients, but not healthy subjects, recognize epitopes that are unique to the epsilon-subunit of the acetylcholine receptor
    Samia Ragheb
    Department of Neurology and Immunology, Wayne State University School of Medicine, 3128 Elliman Building, 421 East Canfield Ave, Detroit, Michigan 42801, USA
    J Neuroimmunol 159:137-45. 2005
  6. ncbi Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations
    K Ohno
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic and Foundation, Rochester, MN 55905, USA
    Hum Mol Genet 6:753-66. 1997
  7. ncbi A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin
    A Abicht
    Genzentrum und Friedrich Baur Institut, LMU Munchen, Germany
    Neurology 53:1564-9. 1999
  8. doi The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa
    P Richard
    AP HP, UF Cardiogénétique et Myogénétique, Paris, France
    Neurology 71:1967-72. 2008
  9. ncbi End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit
    A G Engel
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Ann Neurol 40:810-7. 1996
  10. ncbi Gene expression and plasticity in the rat auditory cortex after bilateral cochlear ablation
    Seung Ha Oh
    Department of Otolaryngology Head and Neck Surgery, College of Medicine, Seoul National University, Seoul, Korea
    Acta Otolaryngol 127:341-50. 2007

Research Grants

  1. Regulation of Synaptic Gene Expression in Muscle
    Kuo Fen Lee; Fiscal Year: 2007
  2. RICARDO ANIBAL MASELLI; Fiscal Year: 2014
  3. MULTIPLE ACTIVITY PATTERNS OF ACETYLCHOLINE RECEPTORS
    Anthony Auerbach; Fiscal Year: 1999
  4. PATHOLOGICAL MECHANISMS IN TRANSYNAPTIC CALCIUM OVERLOAD
    Christopher Gomez; Fiscal Year: 2003
  5. Erbin Regulation of AChR Expression
    Lin Mei; Fiscal Year: 2005
  6. Allosteric Coupling in Homomeric Cys-loop Receptors
    STEVEN SINE; Fiscal Year: 2009
  7. Neuregulin signaling at the neuromuscular synapse
    Larry Fromm; Fiscal Year: 2004
  8. Chromatin modifications that regulate transcription at the neuromuscular synapse
    Larry Fromm; Fiscal Year: 2006

Scientific Experts

Detail Information

Publications113 found, 100 shown here

  1. ncbi Nerve-dependent induction of AChR epsilon-subunit gene expression in muscle is independent of state of differentiation
    H R Brenner
    Physiologisches Institut, Universitat Basel, Switzerland
    Dev Biol 165:527-36. 1994
    ..Thus, both nerve and muscle remain plastic in their respective abilities to induce and express the synapse-specific combination of AChR subunit genes...
  2. ncbi Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit
    K Ohno
    Muscle Research Laboratory, Department of Neurology, Mayo Foundation, Rochester, Minnesota 55905, USA
    Neuron 17:157-70. 1996
    ..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. pmc Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating
    Steven M Sine
    Receptor Biology Laboratory, Department of Physiology and Biophysics, and Mayo Foundation, Rochester, MN 55905, USA
    J Gen Physiol 120:483-96. 2002
    ..The overall results show that key residues at the ACh binding site differentially stabilize the agonist bound to closed, open and desensitized states, and provide a set point for gating of the channel...
  4. ncbi Neuregulin-1 induces expression of Egr-1 and activates acetylcholine receptor transcription through an Egr-1-binding site
    Larry Fromm
    Center for Medical Education, Ball State University and Indiana University School of Medicine, Muncie, IN 47306, USA
    J Mol Biol 339:483-94. 2004
    ..transcription is conferred by cis-acting elements located within 100 bp of 5' flanking DNA from the AChR epsilon subunit gene, and that it requires a GABP binding site within this region...
  5. ncbi Myasthenia gravis patients, but not healthy subjects, recognize epitopes that are unique to the epsilon-subunit of the acetylcholine receptor
    Samia Ragheb
    Department of Neurology and Immunology, Wayne State University School of Medicine, 3128 Elliman Building, 421 East Canfield Ave, Detroit, Michigan 42801, USA
    J Neuroimmunol 159:137-45. 2005
    ..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...
  6. ncbi Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations
    K Ohno
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic and Foundation, Rochester, MN 55905, USA
    Hum Mol Genet 6:753-66. 1997
    ..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...
  7. ncbi A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin
    A Abicht
    Genzentrum und Friedrich Baur Institut, LMU Munchen, Germany
    Neurology 53:1564-9. 1999
    ..Mutation analysis of the acetylcholine receptor (AChR) epsilon subunit gene in patients with sporadic or autosomal recessive congenital myasthenic syndromes (CMS)...
  8. doi The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa
    P Richard
    AP HP, UF Cardiogénétique et Myogénétique, Paris, France
    Neurology 71:1967-72. 2008
    ..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.
  9. ncbi End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit
    A G Engel
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Ann Neurol 40:810-7. 1996
    ..No channel activity could be recorded from HEK cells expressing epsilon 1293insG-AChR. 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...
  10. ncbi Gene expression and plasticity in the rat auditory cortex after bilateral cochlear ablation
    Seung Ha Oh
    Department of Otolaryngology Head and Neck Surgery, College of Medicine, Seoul National University, Seoul, Korea
    Acta Otolaryngol 127:341-50. 2007
    ..In addition, cross-modal plasticity may play an important role in the early changes in the auditory cortex after bilateral cochlear ablation...
  11. pmc Functional and morphological evidence of age-related denervation in rat laryngeal muscles
    Colleen A McMullen
    Department of Physiology, University of Kentucky, MS508, 800 Rose Street, Lexington, KY 40536 0298, USA
    J Gerontol A Biol Sci Med Sci 64:435-42. 2009
    ..NMJ size, abundance, and clustering decreased in 30-month TA and PCA muscles. AChRe mTNA and protein increased with age in both muscles...
  12. doi Combining multiple laser scans of spotted microarrays by means of a two-way ANOVA model
    Jérôme Ambroise
    Information and Communication Technologies, Electronics and Applied Mathematics, Universite Catholique de Louvain
    Stat Appl Genet Mol Biol 11:Article 8. 2012
    ..Most algorithms that combine data acquired at different voltages of the photomultiplier tube (PMT) assume that a change in scanner setting transforms the intensity measurements by a multiplicative constant...
  13. pmc Zonisamide Enhances Neurite Elongation of Primary Motor Neurons and Facilitates Peripheral Nerve Regeneration In Vitro and in a Mouse Model
    Hideki Yagi
    Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan
    PLoS ONE 10:e0142786. 2015
    ..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...
  14. pmc Evidence for Association Between Low Frequency Variants in CHRNA6/CHRNB3 and Antisocial Drug Dependence
    Helen M Kamens
    Department of Biobehavioral Health, Pennsylvania State University, University Park, PA, USA
    Behav Genet 46:693-704. 2016
    ..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...
  15. pmc Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating
    Xin Ming Shen
    Department of Neurology, Mayo Clinic, Rochester, Minnesota
    Hum Mutat 37:1051-9. 2016
    ..Pts 2 and 3 carry the same mutation at an equivalent site in the ε subunit (CHRNE), εV265A (p.Val285Ala)...
  16. pmc A Novel CCM2 Gene Mutation Associated with Familial Cerebral Cavernous Malformation
    Wen qing Huang
    Translational Medicine Research Center, School of Pharmaceutical Sciences, Xiamen UniversityXiamen, China Key Laboratory for Cancer T Cell Theranostics and Clinical TranslationXiamen, China
    Front Aging Neurosci 8:220. 2016
    ..Familial CCMs (FCCMs) is inherited in an autosomal dominant pattern with incomplete penetrance and variable symptoms...
  17. ncbi Three novel COLQ mutations and variation of phenotypic expressivity due to G240X
    Y A Shapira
    Pediatric Neurology Unit, Hadassah University Hospital, Jerusalem
    Neurology 58:603-9. 2002
    ..To determine the molecular basis and consequences of endplate (EP) acetylcholinesterase (AChE) deficiency...
  18. pmc An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X)
    P Soltanzadeh
    J Neurol Neurosurg Psychiatry 76:1039-40. 2005
  19. pmc Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries
    K Ohno
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    J Med Genet 42:e53. 2005
    Mutations in CHRNE, the gene encoding the muscle nicotinic acetylcholine receptor epsilon subunit, cause congenital myasthenic syndromes...
  20. ncbi [Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene]
    Frédéric Chevessier
    INSERM U582 and IFR 14, Institut de Myologie, Hôpital de La Salpêtrière et Université Pierre et Marie Curie, Paris, France
    J Soc Biol 199:61-77. 2005
    ..These results strongly suggest that the missense mutation, in the presence of a null mutation on the other allele, is responsible for the dramatic synaptic changes observed in the patient...
  21. ncbi The CHRNE 470del20 mutation causing congenital myasthenic syndrome in South African Brahman cattle: prevalence, origin, and association with performance traits
    P N Thompson
    Department of Production Animal Studies, Faculty of Veterinary Science, University of Pretoria, Onderstepoort, 0110, South Africa
    J Anim Sci 85:604-9. 2007
    Genotyping of the South African, registered, Brahman cattle population for the 470del20 mutation in the CHRNE gene causing congenital myasthenic syndrome (CMS) was carried out in 1,453 animals. Overall prevalence of carriers was 0.97% (0...
  22. pmc Genetic variants in epidermal growth factor receptor pathway genes and risk of esophageal squamous cell carcinoma and gastric cancer in a Chinese population
    Wen Qing Li
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA
    PLoS ONE 8:e68999. 2013
    ..72), but gene-level analyses suggested associations between GNAI3, CHRNE, PAK4, WASL, and ITCH, and ESCC (P<0.05)...
  23. doi Congenital myasthenic syndrome due to mutation in CHRNE gene with clinical worsening and thymic hyperplasia attributed to association with autoimmune-myasthenia gravis
    Ernestina Santos
    Neurology Department, Hospital Santo Antonio, Centro Hospitalar Porto, Portugal
    Neuromuscul Disord 25:928-31. 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 ..
  24. doi Exome capture sequencing identifies a novel CCM1 mutation in a Chinese family with multiple cerebral cavernous malformations
    Cheng Yuan Mao
    a 1 Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, China
    Int J Neurosci 126:1071-6. 2016
    ..Previous studies of familial CCMs (FCCMs) have mainly reported in Hispanic and Caucasian cases...
  25. ncbi Congenital myasthenic syndrome (CMS) in three European kinships due to a novel splice mutation (IVS7 - 2 A/G) in the epsilon acetylcholine receptor (AChR) subunit gene
    N Barisic
    Department of Pediatrics, Zagreb Medical School, Croatia
    Neuropediatrics 33:249-54. 2002
    ..Analysis of the AChR epsilon subunit gene showed homozygosity for a novel splice site mutation of intron 7 epsilon(IVS7-2A/G) in the two ..
  26. ncbi Frequency of anti-AChR epsilon subunit-specific antibodies in MG
    Kiyoe Ohta
    Clinical Research Center, Utano National Hospital, Kyoto 616 8255, Japan
    Autoimmunity 36:151-4. 2003
    ..5%) of 110 patients with ocular type and in 33 (12.9%) of 255 patients with generalized type MG. Anti-AChR epsilon subunit-specific antibodies were present in 13...
  27. ncbi Gene symbol: CHRNE. Disease: Endplate acetylcholine receptor deficiency
    K Ohno
    Department of Neurogenetics and Bioinformatics, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa Ku, Nagoya 466 8550, Japan
    Hum Genet 117:295. 2005
  28. ncbi CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn
    Juliane S Muller
    Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University, Munich, Germany
    Brain 129:2784-93. 2006
    ..In contrast, the corresponding amino acid substitution in the cytoplasmic loop of the AChR epsilon (CHRNE E376K) as well as a recently reported CMS mutation affecting this domain (CHRNE N436del) had no impact on cluster ..
  29. doi Design and expression of human alpha7 nicotinic acetylcholine receptor extracellular domain mutants with enhanced solubility and ligand-binding properties
    Marios Zouridakis
    Department of Biochemistry, Hellenic Pasteur Institute, 127, GR11521, Athens, Greece
    Biochim Biophys Acta 1794:355-66. 2009
    ....
  30. doi Pain outcomes after surgery in patients with intramedullary spinal cord cavernous malformations
    Harel Deutsch
    Department of Neurosurgery, Rush University Medical Center, Chicago, Illinois, USA
    Neurosurg Focus 29:E15. 2010
    The objective of the study was to quantify the improvement in pain levels for patients who have undergone surgery for intramedullary spinal cord cavernous malformations (SCCMs).
  31. doi Pregnancy in congenital myasthenic syndrome
    L Servais
    Service of therapeutic trials and databases, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, Paris, France
    J Neurol 260:815-9. 2013
    ..We report on 17 pregnancies in eight patients with CMS with mutations in CHRNA1, CHRNE, CHRND, GFPT1, COLQ, or DOK7...
  32. doi Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol
    Sarah Finlayson
    Neuroscience Group, Weatherall Institute of Molecular Medicine, The John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK
    Muscle Nerve 47:279-82. 2013
    ..Slow channel congenital myasthenic syndrome is a dominant disorder characterized by prolonged acetylcholine receptor ion-channel activation...
  33. pmc Muscle-derived extracellular signal-regulated kinases 1 and 2 are required for the maintenance of adult myofibers and their neuromuscular junctions
    Bonnie Seaberg
    Department of Neuroscience and Experimental Therapeutics, College of Medicine, Texas A and M University Health Science Center, Bryan, Texas, USA
    Mol Cell Biol 35:1238-53. 2015
    ..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. ..
  34. doi Myasthenia gravis and congenital myasthenic syndromes in dogs and cats: A history and mini-review
    G Diane Shelton
    Department of Pathology, University of California San Diego, La Jolla, CA 92093 0709, USA Electronic address
    Neuromuscul Disord 26:331-4. 2016
    ..Mutations have been reported in CHRNE, COLQ and CHAT in canine CMS. A form of COLQ deficient CMS has recently been reported in cats.
  35. pmc Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome
    Ariana Kariminejad
    Kariminejad Najmabadi Pathology and Genetics Centre, Tehran, Iran
    BMC Genet 17:71. 2016
    ..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, ..
  36. doi Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up
    D Natera-De Benito
    Department of Pediatrics, Hospital Universitario de Fuenlabrada, Madrid, Spain Electronic address
    Neuromuscul Disord 26:789-795. 2016
    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 allele ..
  37. pmc A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family
    Jia Ze Tan
    Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Neurology, Chongqing 400016, China
    Chin Med J (Engl) 129:2596-2602. 2016
    ..Here, we described a Chinese family that presented with phenotypes of classic slow-channel congenital myasthenic syndrome (SCCMS).
  38. pmc Congenital myasthenic syndrome in Israel: Genetic and clinical characterization
    Sharon Aharoni
    Institute of Child Neurology, Schneider Children s Medical Center of Israel, Petach Tikva, Israel Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel Electronic address
    Neuromuscul Disord . 2016
    ..Mutations in CHRNE were identified in 7 kinships. Less commonly detected mutations were in CHRND, CHAT, GFPT1 and DOK7...
  39. ncbi Thrombin reduces MuSK and acetylcholine receptor expression along with neuromuscular contact size in vitro
    Brice Faraut
    INSERM U582, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, 47, Boulevard de l Hopital, 75651 Paris Cedex 13, France
    Eur J Neurosci 19:2099-108. 2004
    ....
  40. ncbi Gene symbol: CHRNE. Disease: Endplate acetylcholine receptor deficiency
    K Ohno
    Department of Neurogenetics and Bioinformatics, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa Ku, Nagoya 466 8550, Japan
    Hum Genet 117:301. 2005
  41. doi Genes involved in muscle lipid composition in 15 European Bos taurus breeds
    S Dunner
    Departamento de Produccion Animal, Facultad de Veterinaria, Universidad Complutense, Madrid, Spain
    Anim Genet 44:493-501. 2013
    ..Several genes - ALDH2, CHRNE, CRHR2, DGAT1, IGFBP3, NEB, SOCS2, SUSP1, TCF12 and FOXO1 - also were found to be associated with both lipid and ..
  42. ncbi A minigene of neural agrin encoding the laminin-binding and acetylcholine receptor-aggregating domains is sufficient to induce postsynaptic differentiation in muscle fibres
    T Meier
    Institute of Physiology, University of Basel, Switzerland
    Eur J Neurosci 10:3141-52. 1998
    ....
  43. ncbi Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR
    John Ealing
    Neurosciences Group, Weatherall Institute of Molecular Medicine, The John Radcliffe, Oxford OX3 9DS, UK
    Hum Mol Genet 11:3087-96. 2002
    ..AChR deficiency is frequently due to homozygous or heteroallelic mutations in the AChR epsilon subunit, most of which cause truncation of the polypeptide chain and loss of surface expression of AChR...
  44. ncbi A candidate region for Asperger syndrome defined by two 17p breakpoints
    Dmitry Tentler
    Department of Genetics and Pathology, Section of Clinical Genetics, The Rudbeck Laboratory, Uppsala University, Uppsala, Sweden
    Eur J Hum Genet 11:189-95. 2003
    ..The CHRNE, DKFZP566H073, LOC90048, PFN1, SPAG7, KIAA0909, ZNF232 and KIF1C genes showed similar levels of expression in cell ..
  45. ncbi Synapse-specific gene expression at the neuromuscular junction
    Alexandre Mejat
    Equipe Différenciation Neuromusculaire, UMR 5161 CNRS ENS, Ecole Normale Superieure de Lyon, Lyon, France
    Ann N Y Acad Sci 998:53-65. 2003
    ..single-point mutations in the N-box of the AChR epsilon gene promoter and showing reduced levels of AChR epsilon subunit expression...
  46. ncbi Gene symbol: CHRNE. Disease: Endplate acetylcholine receptor deficiency
    K Ohno
    Department of Neurogenetics and Bioinformatics, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa Ku, Nagoya 466 8550, Japan
    Hum Genet 117:301. 2005
  47. ncbi Gene symbol: CHRNE. Disease: Endplate acetylcholine receptor deficiency
    K Ohno
    Department of Neurogenetics and Bioinformatics, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa Ku, Nagoya 466 8550, Japan
    Hum Genet 117:302. 2005
  48. doi Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE
    R A Maselli
    Department of Neurology, University of California Davis, USA
    Clin Genet 80:444-51. 2011
    ..In addition, mutational analysis of CHRNE revealed a homozygous 1293insG, which is a well-known low-expressor receptor mutation...
  49. doi A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation
    Frédéric Chevessier
    Department of Molecular Neurobiology, Max Planck Institute for Medical Research, Jahnstrasse 29, 69120 Heidelberg, Germany
    Neurobiol Dis 45:851-61. 2012
    ..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...
  50. doi [Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience]
    B Eymard
    Centre de référence des affections neuromusculaires Paris Est, Service de neurologie 2, Institut de Myologie, Hopital de la Pitie Salpetriere, 47 bd de l Hopital, 75013 Paris, France
    Rev Neurol (Paris) 169:S45-55. 2013
    ..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...
  51. pmc Pemphigus vulgaris autoantibody profiling by proteomic technique
    Mina Kalantari-Dehaghi
    Department of Dermatology, University of California Irvine, Irvine, California, United States of America
    PLoS ONE 8:e57587. 2013
    ..of test patients' sera were proteins encoded by the DSC1, DSC3, ATP2C1, PKP3, CHRM3, COL21A1, ANXA8L1, CD88 and CHRNE genes...
  52. ncbi Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations
    Rebecca Croxen
    Neurosciences Group, Weatherall Institute of Molecular Medicine, The John Radcliffe, Oxford, United Kingdom
    Neurology 58:1563-5. 2002
    ..The younger sister developed MG at 34 years. This unusual case raises the possibility that genetic defects of the AChR might be a factor in the etiology of autoimmune MG...
  53. doi Angioleiomyomas of the dura: rare entities that lack KRIT1 mutations
    Tracy Marrs Conner
    The University of Colorado Medical School, University of Colorado at Denver, Aurora, CO 80045, USA
    Am J Surg Pathol 36:526-33. 2012
    ..Colorado with a known high incidence of a Hispanic population at risk for familial cavernous cerebral hemangiomas (fCCMs)...
  54. ncbi Extracellular domains mediating epsilon subunit interactions of muscle acetylcholine receptor
    X M Yu
    Department of Physiology, School of Medicine, University of California, San Francisco 94143 0444
    Nature 352:64-7. 1991
    ..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...
  55. pmc Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit
    K Ohno
    Department of Neurology, Mayo Clinic and Foundation, Rochester, MN 55905
    Proc Natl Acad Sci U S A 92:758-62. 1995
    ..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...
  56. ncbi A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome
    C M Gomez
    Department of Neurology, University of Minnesota Medical School, Minneapolis, USA
    Neurology 45:982-5. 1995
    ..We propose that this mutation may be responsible for the disease...
  57. ncbi Five subunit genes of the human muscle nicotinic acetylcholine receptor are mapped to two linkage groups on chromosomes 2 and 17
    E A Lobos
    Division of Biology and Biomedical Sciences, Washington University, St Louis, Missouri 63110
    Genomics 17:642-50. 1993
    ..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...
  58. ncbi Congenital myasthenic syndromes: II. Syndrome attributed to abnormal interaction of acetylcholine with its receptor
    O Uchitel
    Medical Faculty, University of Buenos Aires, Argentina
    Muscle Nerve 16:1293-301. 1993
    ....
  59. pmc ARIA/HRG regulates AChR epsilon subunit gene expression at the neuromuscular synapse via activation of phosphatidylinositol 3-kinase and Ras/MAPK pathway
    M G Tansey
    Department of Molecular Biology and Pharmacology, Washington University School of Medicine, St Louis, Missouri 63110 8103, USA
    J Cell Biol 134:465-76. 1996
    ..Expression of activated Ras or Raf mimicked ARIA-induction of AChR epsilon subunit genes in muscle cells; whereas dominant negative Ras or Raf blocked the effect of ARIA...
  60. ncbi New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome
    A G Engel
    Department of Neurology, Mayo Clinic and Foundation, Rochester, MN 55905, USA
    Hum Mol Genet 5:1217-27. 1996
    ..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...
  61. ncbi Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome
    R Croxen
    Neurosciences Group, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
    Hum Mol Genet 6:767-74. 1997
    ..A subset of these disorders, the slow-channel congenital myasthenic syndrome (SCCMS), is dominantly inherited and has been shown to involve mutations within the muscle acetylcholine receptor (AChR)...
  62. ncbi Deficient development and maintenance of postsynaptic specializations in mutant mice lacking an 'adult' acetylcholine receptor subunit
    A C Missias
    Department of Molecular Biology, Washington University School of Medicine, St Louis, MO 63110, USA
    Development 124:5075-86. 1997
    ..This decreased density led to a profound reorganization of AChR-associated components of the postsynaptic membrane and cytoskeleton. Together, these results suggest novel roles for AChRs in assembly of the postsynaptic apparatus...
  63. ncbi Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome
    C M Harper
    Department of Neurology, Mayo Clinic and Foundation, Rochester, MN 55905, USA
    Ann Neurol 43:480-4. 1998
    The slow-channel congenital myasthenic syndrome (SCCMS) is caused by gain of function mutations in subunits of the end-plate acetylcholine receptor (AChR)...
  64. ncbi Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome
    P Nichols
    Neurosciences Group, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Ann Neurol 45:439-43. 1999
    ..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 ..
  65. ncbi Additive inhibition of nicotinic acetylcholine receptors by corticosteroids and the neuromuscular blocking drug vecuronium
    C H Kindler
    Department of Anesthesia, University of California, San Francisco 94143 0542, USA
    Anesthesiology 92:821-32. 2000
    ....
  66. pmc Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome
    H L Wang
    Receptor Biology Laboratory, Department of Physiology and Biophysics, Mayo Foundation, Rochester, Minnesota 55905, USA
    J Gen Physiol 116:449-62. 2000
    ..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...
  67. ncbi Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by epsilon-AChR subunit truncating mutations
    J P Sieb
    Department of Neurology, University Hospital Bonn, Germany
    Hum Genet 107:160-4. 2000
    ..were heteroallelic for a epsilon911delT and a epsilonIVS4+1G-->A mutation within the AChR epsilon-subunit gene (CHRNE)...
  68. pmc Overlapping of MINK and CHRNE gene loci in the course of mammalian evolution
    Ippeita Dan
    Division of Food Engineering, National Food Research Institute, 2 1 12, Kannondai, Tsukuba, Ibaraki 305 8642, Japan
    Nucleic Acids Res 30:2906-10. 2002
    ..We have found a rare instance of exon overlapping involving CHRNE and MINK gene loci on chromosome 17 in humans...
  69. ncbi Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes
    R Croxen
    Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
    Neurology 59:162-8. 2002
    Slow-channel congenital myasthenic syndromes (SCCMS) typically show dominant inheritance...
  70. ncbi Active calcium accumulation underlies severe weakness in a panel of mice with slow-channel syndrome
    Christopher M Gomez
    Department of Neurology, University of Minnesota, Minneapolis, Minnesota 55455, USA
    J Neurosci 22:6447-57. 2002
    ..in some hereditary epilepsies, in familial hyperekplexia, and the slow-channel congenital myasthenic syndrome (SCCMS) may perturb the kinetics of synaptic currents, leading to significant clinical consequences...
  71. ncbi Erbin suppresses the MAP kinase pathway
    Yang Z Huang
    Department of Neurobiology, Civitan International Research Center, University of Alabama at Birmingham, 35294 0021, USA
    J Biol Chem 278:1108-14. 2003
    ..Collectively, our study has identified Erbin as a novel suppressor of the Ras signaling by disrupting the Ras-Raf interaction...
  72. ncbi Congenital myasthenia in Brahman calves caused by homozygosity for a CHRNE truncating mutation
    Simone Kraner
    Institute of Human Genetics, University Hospital Bonn, Rheinische Friedrich Wilhelms University Bonn, Wilhelmstrasse 31, 53111 Bonn, Germany
    Neurogenetics 4:87-91. 2002
    ..the effect on neuromuscular transmission was more pronounced in the calves than that observed in humans homozygous for truncating CHRNE mutations. This may be due to a different capacity to express the fetal-type AChR after birth.
  73. ncbi Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation
    X M Shen
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 59:1881-8. 2002
    ..To determine the molecular basis of a disabling congenital myasthenic syndrome (CMS) observed in two related and one unrelated Arab kinship...
  74. ncbi Congenital myasthenic syndromes: progress over the past decade
    Andrew G Engel
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA
    Muscle Nerve 27:4-25. 2003
    ..Most low-expressor mutations reside in the AChR epsilon subunit and are partially compensated by residual expression of the fetal type gamma subunit...
  75. pmc Properties of the human muscle nicotinic receptor, and of the slow-channel myasthenic syndrome mutant epsilonL221F, inferred from maximum likelihood fits
    C J Hatton
    Department of Pharmacology, University College London, London WC1E 6BT, UK
    J Physiol 547:729-60. 2003
    ....
  76. ncbi Treatment of slow-channel congenital myasthenic syndrome with fluoxetine
    C Michel Harper
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 60:1710-3. 2003
    ..and nearly normalizes at 10 microM/L the prolonged opening bursts of slow-channel congenital myasthenic syndrome (SCCMS) acetylcholine receptors (AChR) expressed in fibroblasts...
  77. ncbi Allele-specific silencing of a pathogenic mutant acetylcholine receptor subunit by RNA interference
    Amr Abdelgany
    Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, UK
    Hum Mol Genet 12:2637-44. 2003
    Slow channel congenital myasthenic syndrome (SCCMS) is a disorder of the neuromuscular synapse caused by dominantly inherited missense mutations in genes that encode the muscle acetylcholine receptor (AChR) subunits...
  78. ncbi Mechanistic diversity underlying fast channel congenital myasthenic syndromes
    Steven M Sine
    Receptor Biology Laboratory, Department of Physiology and Biophysics, Mayo Medical School, Rochester, Minnesota 55905, USA
    Ann N Y Acad Sci 998:128-37. 2003
    ..Although both have similar phenotypic consequences, they are physiologic opposites. Expression of the FCCMS phenotype requires the missense mutation to be accompanied by a second mutation, either a null or a missense ..
  79. ncbi Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction
    Andrew G Engel
    Neuromuscular Disease Research Laboratory, Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Ann N Y Acad Sci 998:138-60. 2003
    ..Most low-expressor mutations reside in the AChR epsilon subunit and are partially compensated by residual expression of the fetal-type gamma subunit...
  80. ncbi Lack of association between acetylcholine receptor epsilon polymorphisms and early-onset myasthenia gravis
    Domenico Marco Bonifati
    Neurosciences Group, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, United Kingdom
    Muscle Nerve 29:436-9. 2004
    ..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.
  81. pmc Mutation history of the roma/gypsies
    Bharti Morar
    Laboratory of Molecular Genetics, Western Australian Institute for Medical Research and UWA Centre for Medical Research, University of Western Australia, Perth, Australia
    Am J Hum Genet 75:596-609. 2004
    ....
  82. ncbi Congenital myasthenic syndromes
    Daniel Hantai
    Inserm U582 and Unité Clinique de Pathologie Neuromusculaire, Institut de Myologie, Hopital de la Salpetriere, Paris, France
    Curr Opin Neurol 17:539-51. 2004
    ..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...
  83. ncbi A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition
    Judy Cossins
    Neuroscience Group, Weatherall Institute of Molecular Medicine, The John Radcliffe, Oxford, UK
    Hum Mol Genet 13:2947-57. 2004
    ....
  84. ncbi MUSK, a new target for mutations causing congenital myasthenic syndrome
    Frédéric Chevessier
    INSERM U582 and IFR Cur, Muscle, Vaisseaux, Institut de Myologie, Hôpital de la Salpêtrière and Université Pierre et Marie Curie, Paris, France
    Hum Mol Genet 13:3229-40. 2004
    ..These results strongly suggest that the missense mutation, in the presence of a null mutation on the other allele, is responsible for the dramatic synaptic changes observed in the patient...
  85. ncbi Novel role for cyclin-dependent kinase 2 in neuregulin-induced acetylcholine receptor epsilon subunit expression in differentiated myotubes
    Gang Lu
    Department of Genome Science, Genome Research Institute, University of Cincinnati, 2180 E Galbraith Road, Cincinnati, OH 45237, USA
    J Biol Chem 280:21731-8. 2005
    ..These findings establish CDK2 as an intermediate molecule that integrates NRG-activated signals from both the MAPK and PI3K pathways to AChRepsilon expression and reveal an undiscovered physiological role for CDK2 in postmitotic cells...
  86. ncbi An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome
    J S Müller
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
    Neurology 65:463-5. 2005
    Reported is a patient with a congenital myasthenic syndrome due to two compound heterozygous mutations of the CHRNE gene...
  87. pmc The human adult subtype ACh receptor channel has high Ca2+ permeability and predisposes to endplate Ca2+ overloading
    Sergio Fucile
    Pasteur Institute Cenci Bolognetti Foundation and Department of Human Physiology and Pharmacology and Centre of Excellence for Biology and Molecular Medicine, University of Rome La Sapienza, Piazzale Aldo Moro 5 I 00185 Rome, Italy
    J Physiol 573:35-43. 2006
    ..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...
  88. ncbi Splicing abnormalities in congenital myasthenic syndromes
    Kinji Ohno
    Division of Neurogenetics and Bioinformatics, Department of Advanced Medical Science, Nagoya University Graduate School of Medicine, Japan
    Acta Myol 24:50-4. 2005
    ..A 7-bp deletion in CHRNE exon 7 causes skipping of the preceding 101-bp exon 6...
  89. ncbi Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine
    J Colomer
    Unitat de Patologia Neuromuscular, Servei de Neurologia, Hospital Sant Joan de Deu, 2 08950 Esplugues, Barcelona, Spain
    Neuromuscul Disord 16:329-33. 2006
    ..At age 14, the slow-channel syndrome mutation CHRNE L269F (805C>T) was detected and acetylcholinesterase inhibitor therapy was immediately stopped...
  90. pmc Pathogenic point mutations in a transmembrane domain of the epsilon subunit increase the Ca2+ permeability of the human endplate ACh receptor
    Amalia Di Castro
    Istituto Pasteur Fondazione Cenci Bolognetti and Dipartimento di Fisiologia Umana e Farmacologia, Università La Sapienza P le A Moro 5 I 00185 Roma, Italy
    J Physiol 579:671-7. 2007
    ..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)...
  91. pmc Postsynaptic chromatin is under neural control at the neuromuscular junction
    Aymeric Ravel-Chapuis
    Equipe Différenciation Neuromusculaire, IFR128, UMR5161, CNRS, INRA, Universite de Lyon, Lyon Cedex, France
    EMBO J 26:1117-28. 2007
    ..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...
  92. ncbi A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome
    Pascale Richard
    AP HP, Groupe Hospitalier Pitie Salpetriere, Unité Fonctionnelle de Cardiogénétique et Myogénétique, Service de Biochimie B, Paris, France
    Neuromuscul Disord 17:409-14. 2007
    ..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...
  93. pmc Essential roles of the acetylcholine receptor gamma-subunit in neuromuscular synaptic patterning
    Yun Liu
    Department of Neuroscience, UT Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75235 9111, USA
    Development 135:1957-67. 2008
    ..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...
  94. doi Preferential expression of AChR epsilon-subunit in thymomas from patients with myasthenia gravis
    Calman A MacLennan
    Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK
    J Neuroimmunol 201:28-32. 2008
    ..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...
  95. doi Congenital myasthenic syndromes in childhood: diagnostic and management challenges
    M Kinali
    The Dubowitz Neuromuscular Centre, Great Ormond Street Hospital and Institute of Child Health, University College, London, UK
    J Neuroimmunol 201:6-12. 2008
    ..Mutations have been identified so far in 32/46 children: 10 RAPSN, 7 COLQ, 6 CHRNE, 7 DOK7, 1 CHRNA1 and 1 CHAT...
  96. pmc Decremental response to high-frequency trains of acetylcholine pulses but unaltered fractional Ca2+ currents in a panel of "slow-channel syndrome" nicotinic receptor mutants
    Sergio Elenes
    Department of Molecular and Integrative Physiology, Center for Biophysics and Computational Biology, University of Illinois at Urbana Champaign, 61801, USA
    J Gen Physiol 133:151-69. 2009
    The slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the neuromuscular junction caused by gain-of-function mutations to the muscle nicotinic acetylcholine (ACh) receptor (AChR)...
  97. pmc Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes
    Nancy L Saccone
    Department of Genetics, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Am J Med Genet B Neuropsychiatr Genet 150:453-66. 2009
    ....
  98. pmc AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands
    Catharina G Faber
    Department of Neurology, Maastricht University Medical Centre, PO Box 5800, 6202 AZ, Maastricht, The Netherlands
    J Neurol 256:1719-23. 2009
    ....
  99. doi Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes
    Raffaella Brugnoni
    Laboratory NBS Biotech, Fondazione Istituto Neurologico Carlo Besta, Milan, Italy
    J Neurol 257:1119-23. 2010
    ..unreported heterozygous epsilonY8X mutation associated with a known heterozygous epsilonM292del deletion in the CHRNE gene, and the common heterozygous N88K mutation associated with a previously unreported heterozygous IVS1 + 2T >..
  100. pmc Chromatin modifications that support acetylcholine receptor gene activation are established during muscle cell determination and differentiation
    Carter A Herndon
    Indiana University School of Medicine Muncie, 2000 University Avenue, Muncie, IN 47306, USA
    Mol Biol Rep 38:1277-85. 2011
    ..immunoprecipitation, we examined the developmental regulation of certain histone modifications at the AChR epsilon subunit locus, including methylations at lysine residues K4 and K27 and acetylations at K9 and K14...

Research Grants8

  1. Regulation of Synaptic Gene Expression in Muscle
    Kuo Fen Lee; Fiscal Year: 2007
    ..To determine the role of the neuregulin signaling pathway in regulating expression of adult AchRe subunit Aim 3...
  2. RICARDO ANIBAL MASELLI; Fiscal Year: 2014
    ..century, defects in genes encoding the adult acetylcholine receptor (AChR) subunit genes (CHRNA1, CHRNB1, CHRND, CHRNE), and the acetylcholinesterase (AChE) collagenic tail (COLQ) were shown to cause several forms of CMS...
  3. MULTIPLE ACTIVITY PATTERNS OF ACETYLCHOLINE RECEPTORS
    Anthony Auerbach; Fiscal Year: 1999
    ..The third objective is to study the biophysical basis of slow channel congenital myasthenic syndrome (SCCMS), a human disease that arises from natural mutations in the acetylcholine receptor protein...
  4. PATHOLOGICAL MECHANISMS IN TRANSYNAPTIC CALCIUM OVERLOAD
    Christopher Gomez; Fiscal Year: 2003
    ..The slow channel congenital myasthenic syndrome (SCCMS) is caused by mutations that result in delayed closure of the ion channel of the acetylcholine receptor (AM) of ..
  5. Erbin Regulation of AChR Expression
    Lin Mei; Fiscal Year: 2005
    ..The resulting data will provide a better understanding of how NRG signaling and NRG-induced AChR expression are regulated at cellular levels. Such knowledge will contribute to our understanding of neurological disorders at the NMJ. ..
  6. Allosteric Coupling in Homomeric Cys-loop Receptors
    STEVEN SINE; Fiscal Year: 2009
    ..Knowledge of how Cys-loop receptors operate at the molecular level is essential to developing therapeutic strategies and drugs with fewer side effects. ..
  7. Neuregulin signaling at the neuromuscular synapse
    Larry Fromm; Fiscal Year: 2004
    ..In addition to providing information on development of the neuromuscular synapse, the proposed experiments may also yield insight into other processes which are influenced by neuregulin signaling, such as cellular transformation ..
  8. Chromatin modifications that regulate transcription at the neuromuscular synapse
    Larry Fromm; Fiscal Year: 2006
    ..Because synapses in the CNS become defective in many neurodegenerative diseases, understanding these mechanisms might be useful for restoring proper synapses. [unreadable] [unreadable]..