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Elliot J. Androphy, M.D.

Kampen-Norins Professor and Chair, Department of Dermatology

Education/Training:
University of Rochester, Rochester, NY, M.D. (1979-1980)
 
Spinal muscular atrophy: pathogenesis of a motor neuron disease and progress toward treatment.
My lab has characterized the mechanism of alternative splicing of the SMN2 gene, which leads to skipping of exon 7 and failure to protect from motor neuron loss found in spinal muscular atrophy (SMA). Presently we are investigating the functions the survival motor neuron (SMN) protein in regard to its potential roles in axonal transport and neuronal development. We have performed large high throughput screens for compounds that increase levels of the SMN protein that is deficient in SMA, with the current goal to increase the potency and optimize pharmacology of our pre-clinical leads and initiate testing in murine models of SMA.

Search for Dr. Androphy on PubMed

Selected Publications:

1. Lorson C.L., Strasswimmer J., Yao J-M., Baleja J.D., Hahnen E., Wirth B., Thanh L., Burghes A.H.M. and Androphy E.J. SMN oligomerization defect correlates with spinal muscular atrophy severity. Nature Genetics 19: 63-66, 1998.

2. Lorson C.L. and Androphy E.J. The domain encoded by exon 2 of the survival motor neuron protein mediates nucleic acid binding. Hum. Mol. Genet. 7: 1269-1275, 1998.

3. Strasswimmer J., Lorson C.L., Breiding D.E., Chen J.J., Le T., Burghes A.H.M. and Androphy E.J. Identification of survival motor neuron as a transcriptional activator-binding protein. Hum. Mol. Genet. 8:1219-1226, 1999

4. Lorson C.L., Hahnen E., Androphy E.J., and Wirth B. A single nucleotide in exon 7 of the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc. Natl. Acad. Sci. 96: 6307-6311, 1999.

5. Monani, U. R., Lorson C.L., Parsons D.W., Androphy E.J., Prior T.W., Burghes A.H.M., and McPherson J.D. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum. Mol. Genet. 8: 1177-1183, 1999.

6. Lorson C.L. and Androphy E.J. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN. Hum. Mol. Genet. 9: 259-265, 2000

7. Singh, NN, Androphy, EJ and Singh, RN. In vivo selection reveals features of combinatorial control that defines a critical exon in the spinal muscular atrophy genes. RNA 10:1291-1305, 2004. 

8. Singh NK, Singh NN, Androphy EJ and Singh RN. Splicing of a critical exon of Survival Motor Neuron

9. Baleja JB, Cherry J, Gao H, Liu Z, Nicklaus M, Voigt JH, Chen JJ, and Androphy EJ. Identification of papillomavirus inhibitors based on three-dimension structures of E6-interacting proteins. Antiviral Res 72:49-59, 2006

10. Parish JL, Bean AM, Park RB, and Androphy EJ. ChlR1 is required for loading papillomavirus E2 onto mitotic chromosomes and viral genome maintenance. Molec Cell 24:867-876, 2006

11. Kumar AR, Naidu S, Wang X, Imbalzano A, Androphy EJ. Interaction of papillomavirus E2 protein with the chromatin remodeling Brm complex leads to enhanced transcriptional activation. J Virol 81: 2213-20, 2007.

12. Sekaric P, Shamanin VA, Luo J, and Androphy EJ. hADA3 regulates p14ARF-induced p53 acetylation and senescence. Oncogene 26: 6261-6268, 2007.

13. Shamanin VA, Sekaric P, and Androphy EJ. hAda3 degradation by papillomavirus 16 E6 correlates with abrogation of p14ARF-p53 pathway and efficient immortalization of human mammary epithelial cells. J Virol 82: 3912-20, 2008.

14. Naidu SR, Love IM, Imbalzano AN, Grossman SR and Androphy EJ. The SWI/SNF chromatin remodeling subunit BRG1 regulates p53. Oncogene 28:2492-2501, 2009.

15. Melanson SM and Androphy EJ. Topography of bovine papillomavirus E2 protein on the viral genome during cell cycle. Virology 393: 258-64, 2009.

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