Stephen Kolb, M.D. , Ph.D.
Assistant Professor of Neurology
And Molecular and Cellular Biochemistry
The Ohio State University Medical Center
Department of Molecular and
1645 Neil Avenue
Columbus, OH 43210
Phone: (614) 292-3545
Fax: (614) 293-4118
Education & Training:
University of Texas, Austin 1990 B.A. in Biochemistry
of Texas Medical School, Houston 1998 M.D. & Ph.D.
University of Pennsylvania,
2002 Residency in Medicine and Neurology
University of Pennsylvania, 2007
The Kolb Lab is devoted to the understanding of molecular pathways
that, when altered, result in diseases of the motor neuron. We are particularly
interested in alterations in RNA metabolism that result in neurological
diseases. The mechanisms of spinal muscular atrophy and of distal hereditary
neuropathies are current foci for biochemical and cell-based investigation.
Our long-term goals are to determine the precise mechanisms that cause
motor neuron diseases, including sporadic amyotrophic lateral sclerosis,
and to develop small molecule and/or gene-based therapies for these diseases.
- Kolb SJ, Snyder PJ, Poi EJ, Renard EA, Bartlett A, Gu S, Sutton S, Arnold WD, Freimer ML, Lawson VH, Kissel JT, Prior TW. (2010) Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach, Neurology, 74:502-506.
- Elsheikh B, Prior T, Zhang X, Miller R, Kolb SJ, Moore D, Bradley W, Barohn R, Bryan W, Gelinas D, Iannaccone S, Leshner R, Mendell JR, Mendoza M, Russman B, Smith S, King W, Kissel JT. (2009) An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy, Muscle Nerve, 40:652-656.
- Kolb, S.J. and Kissel, J.T. (2008) Coincident Trinucleotide Repeat
Expansions in a Patient with Myotonic Dystrophy Type 1 and Spinocerebellar
Ataxia, J. Clin. Neuromus. Dis. 10, 22-23.
- Kolb, S.J., Battle, D.J., Dreyfuss, G. (2007) Molecular Functions
of the SMN Complex, J. Child Neurol. 22, 990-994.
- Neumann, M., Igaz, L.M., Kwong, L.K., Nakashima-Yasuda, H., Kolb,
S.J., Dreyfuss, G., Kretzschmar, H.A., Trojanowski, J.Q., and Lee,
V. M.-Y. (2007) Absence of Heterogeneous Nuclear Ribonucleoproteins
and Survival Motor Neuron Protein in TDP-43 Positive Inclusions in
Frontotemporal Lobar Degeneration, Acta Neuropathol. (Berl). 113,
- Sumner, C.J. *, Kolb, S.J.*, Harmison, G.G., Jeffries, N.O., Schadt,
K., Finkel, R.S., Dreyfuss, G., and Fischbeck, K.H. (2006) SMN mRNA
and Protein Levels in Peripheral Blood: Biomarkers for SMA Clinical
Trials, Neurol. 66, 1067-1073. *co-first author
- Kolb, S.J., Gubitz, A.K., Olszewski, R.F., Ottinger, E., Sumner,
C.J., Fischbeck, K.H., and Dreyfuss, G. (2006) A Novel Cell Immunoassay
to Measure Survival of Motor Neurons Protein in Blood Cells, BMC
Neurology 6, 6.
- Wan, L., Battle, D.J., Yong, J., Gubitz, A.K.,
Kolb, S.J., Wang, J., and Dreyfuss, G. (2005) The Survival of Motor
Neurons Protein Determines the Capacity for snRNP Assembly: a Biochemical
Deficiency in Spinal Muscular Atrophy, Mol. Cell. Biol. 25,