Stephen J Kolb

Summary

Affiliation: University of Pennsylvania
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 Molecular functions of the SMN complex
    Stephen J Kolb
    Howard Hughes Medical Institute, Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    J Child Neurol 22:990-4. 2007
  3. pmc The survival of motor neurons protein determines the capacity for snRNP assembly: biochemical deficiency in spinal muscular atrophy
    Lili Wan
    Howard Hughes Medical Institute, Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6148, USA
    Mol Cell Biol 25:5543-51. 2005
  4. ncbi request reprint Absence of heterogeneous nuclear ribonucleoproteins and survival motor neuron protein in TDP-43 positive inclusions in frontotemporal lobar degeneration
    Manuela Neumann
    Center for Neuropathology and Prion Research, Ludwig Maximilians University, Feodor Lynen Str 23, 81377 Munich, Germany
    Acta Neuropathol 113:543-8. 2007

Collaborators

Detail Information

Publications4

  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 Molecular functions of the SMN complex
    Stephen J Kolb
    Howard Hughes Medical Institute, Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    J Child Neurol 22:990-4. 2007
    ..This review focuses on the current understanding of the mechanism of the role of the SMN complex in small nuclear ribonucleoprotein assembly and considers the relationship of this function to spinal muscular atrophy...
  3. pmc The survival of motor neurons protein determines the capacity for snRNP assembly: biochemical deficiency in spinal muscular atrophy
    Lili Wan
    Howard Hughes Medical Institute, Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6148, USA
    Mol Cell Biol 25:5543-51. 2005
    ..Thus, SMN determines the capacity for snRNP biogenesis, and our findings provide evidence for a measurable deficiency in a biochemical activity in cells from patients with spinal muscular atrophy...
  4. ncbi request reprint Absence of heterogeneous nuclear ribonucleoproteins and survival motor neuron protein in TDP-43 positive inclusions in frontotemporal lobar degeneration
    Manuela Neumann
    Center for Neuropathology and Prion Research, Ludwig Maximilians University, Feodor Lynen Str 23, 81377 Munich, Germany
    Acta Neuropathol 113:543-8. 2007
    ..These results argue against a role of these binding partners in the pathogenesis of FTLD-U and emphasize the specificity of TDP-43 as marker for FTLD-U pathology...