C J Sumner

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc A novel cell immunoassay to measure survival of motor neurons protein in blood cells
    Stephen J Kolb
    Howard Hughes Medical Institute and Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6148, USA
    BMC Neurol 6:6. 2006
  2. ncbi request reprint Jaw drop in Kennedy's disease
    Charlotte J Sumner
    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA
    Neurology 59:1471-2. 2002
  3. ncbi request reprint Valproic acid increases SMN levels in spinal muscular atrophy patient cells
    Charlotte J Sumner
    Neurogenetics Branch, National Institute of Neurologic Diseases and Stroke NIH, Building 10, Room 3B 14, MSC 1250, 10 Center Drive, Bethesda, MD 20892, USA
    Ann Neurol 54:647-54. 2003
  4. ncbi request reprint SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials
    C J Sumner
    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA
    Neurology 66:1067-73. 2006
  5. doi request reprint Targeting splicing in spinal muscular atrophy
    Barrington G Burnett
    Ann Neurol 63:3-6. 2008
  6. ncbi request reprint Molecular mechanisms of spinal muscular atrophy
    Charlotte J Sumner
    Department of Neurology, Johns Hopkins University, Baltimore, Maryland 21287, USA
    J Child Neurol 22:979-89. 2007
  7. ncbi request reprint Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia
    Nicholas A Di Prospero
    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 3705, USA
    Arch Neurol 64:803-8. 2007
  8. pmc Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy
    Amy M Avila
    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke NINDS, NIH, Bethesda, MA 20892, USA
    J Clin Invest 117:659-71. 2007
  9. pmc Therapeutics development for spinal muscular atrophy
    Charlotte J Sumner
    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA
    NeuroRx 3:235-45. 2006
  10. ncbi request reprint The role of histone acetylation in SMN gene expression
    Lauren E Kernochan
    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA
    Hum Mol Genet 14:1171-82. 2005

Collaborators

  • J Paul Taylor
  • K H Fischbeck
  • Jill Jarecki
  • B M Ravina
  • Scott R Penzak
  • Arthur Burghes
  • Livio Pellizzoni
  • Barrington G Burnett
  • Nicholas A Di Prospero
  • Amy M Avila
  • Joanna C Bakowska
  • Stephen J Kolb
  • Lauren E Kernochan
  • Mitchell R Lunn
  • Craig Blackstone
  • Heng Wang
  • Baozhong Xin
  • Ziga Cizman
  • Parvana Hartenstein
  • Francesca Gabanella
  • Addis A Taye
  • Melanie A Knight
  • Gideon Dreyfuss
  • Robert F Olszewski
  • Amelie K Gubitz
  • Elizabeth Ottinger
  • Nathaniel S Woodling
  • Thanh N Huynh
  • Melissa L Russo
  • Elliot J Androphy
  • Jianhua Zhou
  • Nguyen Thi Man
  • Brent R Stockwell
  • Glenn E Morris
  • Brian P Kelley
  • David E Root
  • Daniel D Coovert
  • Stephen P Flaherty
  • Allison M Martino

Detail Information

Publications12

  1. pmc A novel cell immunoassay to measure survival of motor neurons protein in blood cells
    Stephen J Kolb
    Howard Hughes Medical Institute and Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6148, USA
    BMC Neurol 6:6. 2006
    ..A major goal of current therapeutic approaches is to increase SMN levels in SMA patients. The purpose of this study was to develop a reliable assay to measure SMN protein levels from peripheral blood samples...
  2. ncbi request reprint Jaw drop in Kennedy's disease
    Charlotte J Sumner
    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA
    Neurology 59:1471-2. 2002
  3. ncbi request reprint Valproic acid increases SMN levels in spinal muscular atrophy patient cells
    Charlotte J Sumner
    Neurogenetics Branch, National Institute of Neurologic Diseases and Stroke NIH, Building 10, Room 3B 14, MSC 1250, 10 Center Drive, Bethesda, MD 20892, USA
    Ann Neurol 54:647-54. 2003
    ..Valproic acid may increase SMN levels both by activating the SMN promoter and by preventing exon 7 skipping in SMN transcripts. Valproic acid and related compounds warrant further investigation as potential treatment for SMA...
  4. ncbi request reprint SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials
    C J Sumner
    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA
    Neurology 66:1067-73. 2006
    ..Clinical trials of drugs that increase SMN protein levels in vitro are currently under way in patients with spinal muscular atrophy...
  5. doi request reprint Targeting splicing in spinal muscular atrophy
    Barrington G Burnett
    Ann Neurol 63:3-6. 2008
  6. ncbi request reprint Molecular mechanisms of spinal muscular atrophy
    Charlotte J Sumner
    Department of Neurology, Johns Hopkins University, Baltimore, Maryland 21287, USA
    J Child Neurol 22:979-89. 2007
    ..Histone deacetylase inhibitors will be discussed as an example...
  7. ncbi request reprint Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia
    Nicholas A Di Prospero
    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 3705, USA
    Arch Neurol 64:803-8. 2007
    ..Some studies suggest that higher doses of idebenone may be more effective, but pharmacology and toxicology at higher doses have not been investigated in human beings...
  8. pmc Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy
    Amy M Avila
    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke NINDS, NIH, Bethesda, MA 20892, USA
    J Clin Invest 117:659-71. 2007
    ..These results indicate that the hydroxamic acid class of HDAC inhibitors activates SMN2 gene expression in vivo and has an ameliorating effect on the SMA disease phenotype when administered after disease onset...
  9. pmc Therapeutics development for spinal muscular atrophy
    Charlotte J Sumner
    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA
    NeuroRx 3:235-45. 2006
    ..Early clinical trials of candidate therapeutics are now ongoing in SMA patients. Clinical trials in this disease present a unique set of challenges, including the development of meaningful outcome measures and disease biomarkers...
  10. ncbi request reprint The role of histone acetylation in SMN gene expression
    Lauren E Kernochan
    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA
    Hum Mol Genet 14:1171-82. 2005
    ..These data indicate that histone acetylation modulates SMN gene expression and that pharmacological manipulation of this epigenetic determinant is feasible. HDAC2, in particular, may be a future therapeutic target for SMA...
  11. pmc Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism
    Mitchell R Lunn
    Department of Biological Sciences, Columbia University, Fairchild Center, MC 2406, 1212 Amsterdam Avenue, New York, NY 10027, USA
    Chem Biol 11:1489-93. 2004
    ..No other NSAIDs or COX inhibitors tested exhibited this activity...
  12. doi request reprint Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?
    Joanna C Bakowska
    Cellular Neurology Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892 3704, USA
    Arch Neurol 65:520-4. 2008
    ..This mutation is predicted to cause premature termination of the spartin protein. However, it remains unknown whether this truncated spartin protein is absent or is present and partially functional in patients...