Xin Ming Shen

Summary

Affiliation: Mayo Clinic
Country: USA

Publications

  1. pmc Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating
    Xin Ming Shen
    Neuromuscular Research Laboratory, Department of Neurology, Mayo Clinic, Rochester, MN, USA
    J Clin Invest 122:2613-21. 2012
  2. pmc Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site
    Xin Ming Shen
    Department of Neurology, Mayo Clinic, Rochester, MN, USA
    Neurology 79:449-54. 2012
  3. pmc Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating
    Xin Ming Shen
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Clin Invest 111:497-505. 2003
  4. pmc Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome
    Kinji Ohno
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Am J Hum Genet 70:875-85. 2002
  5. pmc GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity
    Duygu Selcen
    Department of Neurology, Mayo Clinic, Rochester, MN, USA
    Neurology 81:370-8. 2013
  6. ncbi Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker
    Xin Ming Shen
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Brain 128:345-55. 2005
  7. ncbi Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown
    Xin Ming Shen
    Neuromuscular Research Laboratory and Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Ann Neurol 60:128-36. 2006
  8. pmc What have we learned from the congenital myasthenic syndromes
    Andrew G Engel
    Department of Neurology and Muscle Research Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    J Mol Neurosci 40:143-53. 2010
  9. pmc Myasthenic syndrome caused by mutation of the SCN4A sodium channel
    Akira Tsujino
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Proc Natl Acad Sci U S A 100:7377-82. 2003
  10. 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

Collaborators

Detail Information

Publications21

  1. pmc Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating
    Xin Ming Shen
    Neuromuscular Research Laboratory, Department of Neurology, Mayo Clinic, Rochester, MN, USA
    J Clin Invest 122:2613-21. 2012
    ..Cumulatively, these results indicate that V188 of AChRα is part of an interdependent tetrad that contributes to rearrangement of the C-loop during the initial coupling of agonist binding to channel gating...
  2. pmc Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site
    Xin Ming Shen
    Department of Neurology, Mayo Clinic, Rochester, MN, USA
    Neurology 79:449-54. 2012
    ..To characterize the molecular basis of a novel fast-channel congenital myasthenic syndrome...
  3. pmc Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating
    Xin Ming Shen
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Clin Invest 111:497-505. 2003
    ..The overall findings reveal functional asymmetry between cys-loops of the different AChR subunits in contributing to ACh binding and channel gating...
  4. pmc Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome
    Kinji Ohno
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Am J Hum Genet 70:875-85. 2002
    ..Expression studies in HEK cells indicate that none of the mutations hinders rapsyn self-association but that all three diminish coclustering of AChR with rapsyn...
  5. pmc GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity
    Duygu Selcen
    Department of Neurology, Mayo Clinic, Rochester, MN, USA
    Neurology 81:370-8. 2013
    ..To identify patients with GFPT1-related limb-girdle myasthenia and analyze phenotypic consequences of the mutations...
  6. ncbi Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker
    Xin Ming Shen
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Brain 128:345-55. 2005
    ..The overall studies reveal subunit asymmetry in the contributions of the M3-M4 loops in optimizing AChR activation through allosteric links to the channel and the agonist binding site...
  7. ncbi Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown
    Xin Ming Shen
    Neuromuscular Research Laboratory and Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Ann Neurol 60:128-36. 2006
    ..To identify the genetic basis of a slow-channel myasthenic syndrome, characterize functional properties of the mutant receptor, and selectively silence the mutant allele...
  8. pmc What have we learned from the congenital myasthenic syndromes
    Andrew G Engel
    Department of Neurology and Muscle Research Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    J Mol Neurosci 40:143-53. 2010
    ..Mutations in EP-specific proteins also prompted expression studies that proved pathogenicity, highlighted important functional domains of the abnormal proteins, and pointed to rational therapy...
  9. pmc Myasthenic syndrome caused by mutation of the SCN4A sodium channel
    Akira Tsujino
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Proc Natl Acad Sci U S A 100:7377-82. 2003
    ..The V1442E mutation in SCN4A defines a novel disease mechanism and a novel phenotype with myasthenic features...
  10. 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
    ..In a subset of CMS patients, endplate AChR deficiency is caused by mutations in rapsyn, a molecule that plays a critical role in concentrating AChR in the postsynaptic membrane...
  11. 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
    ..This review focuses on new mechanisms underlying the FCCMS...
  12. pmc DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies
    Duygu Selcen
    From the Departments of Neurology and Neuromuscular Research Laboratory D S, X M S, J B, A G E, Biomedical Informatics and Statistics Y L, Orthopedic Surgery A A S, and Biochemistry and Molecular Biology E W, Mayo Clinic, Rochester, MN
    Neurology 82:1822-30. 2014
    ..To investigate patients with DPAGT1 (UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase 1)-associated myasthenic syndrome...
  13. ncbi Are MuSK antibodies the primary cause of myasthenic symptoms?
    Duygu Selcen
    Department of Neurology and Neuromuscular Disease Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 62:1945-50. 2004
    ..To investigate the morphologic, electrophysiologic, and molecular correlates of muscle-specific tyrosine kinase-seropositive [MuSK(+)] myasthenia gravis (MG)...
  14. ncbi A frameshifting mutation in CHRNE unmasks skipping of the preceding exon
    Kinji Ohno
    Department of Neurology, Mayo Clinic, Rochester, MN, USA
    Hum Mol Genet 12:3055-66. 2003
    ..Indeed, we found that epsilonEF157V and epsilonE154X in exon 6, observed in two other patients, caused aberrant splicing of exon 6...
  15. pmc Further observations in congenital myasthenic syndromes
    Andrew G Engel
    Department of Neurology and Muscle Research Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Ann N Y Acad Sci 1132:104-13. 2008
    ..4, MuSK, and Dok-7. Moreover, emerging genotype-phenotype correlations are providing clues for targeted mutation analysis. This review focuses on the recent observations in selected CMS...
  16. pmc Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating
    Xin Ming Shen
    Muscle Research Laboratory, Department of Neurology, Receptor Biology Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Clin Invest 118:1867-76. 2008
    ..Thus, deltaL42 is part of an intersubunit network that enables ACh binding to rapidly open the AChR channel, which may be compromised in patients with CM...
  17. pmc PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome
    Luc Régal
    From the Center of Human Genetics L R, J W M C, S M, Laboratory of Biochemical Neuroendocrinology, KU Leuven Department of Pediatrics and Pediatric Metabolic Disorders C V, University Hospital Leuven, Belgium and Department of Neurology X M S, D S, A G E, Mayo Clinic, Rochester, MN
    Neurology 82:1254-60. 2014
    ..To investigate the genetic and physiologic basis of the neuromuscular symptoms of hypotonia-cystinuria syndrome (HCS) and isolated PREPL deficiency, and their response to therapy...
  18. pmc Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia
    Teerin Liewluck
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic College of Medicine, Rochester, MN, USA
    Neuromuscul Disord 21:387-95. 2011
    ..The safety margin of neuromuscular transmission is compromised by decreased quantal release by nerve impulse and by a reduced postsynaptic response to the released quanta...
  19. pmc Functional consequences and structural interpretation of mutations of human choline acetyltransferase
    Xin Ming Shen
    Department of Neurology and Muscle Research Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA
    Hum Mutat 32:1259-67. 2011
    ..Two mutations introducing a proline residue into an α-helix (p.Ser498Pro and p.Ser704Pro) impair the thermal stability of ChAT...
  20. pmc New horizons for congenital myasthenic syndromes
    Andrew G Engel
    Neuromuscular Research Laboratory, Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA
    Ann N Y Acad Sci 1275:54-62. 2012
    ....
  21. pmc Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients
    Duygu Selcen
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Ann Neurol 64:71-87. 2008
    ..Detailed analysis of phenotypic and molecular genetic aspects of Dok-7 myasthenia in 16 patients...