Research Topics
Species | Stephen J KolbSummaryAffiliation: University of Pennsylvania Country: USA Publications
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Publications
A novel cell immunoassay to measure survival of motor neurons protein in blood cellsStephen 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...
Molecular functions of the SMN complexStephen 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...
The survival of motor neurons protein determines the capacity for snRNP assembly: biochemical deficiency in spinal muscular atrophyLili 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...
Absence of heterogeneous nuclear ribonucleoproteins and survival motor neuron protein in TDP-43 positive inclusions in frontotemporal lobar degenerationManuela 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...
