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Personal profile

Research Interests

My broad research interest lies in understanding the molecular basis of human genetic diseases and developing therapeutics for their treatment. Specifically, my research primarily focuses on neuromuscular diseases, which are those that affect muscle, the nerves that innervate muscle or the neuromuscular junction, which is the connection between the two. One way to approach this problem is to study mutations that disrupt normal neuromuscular development. One prime example is proximal spinal muscular atrophy (SMA). This disorder is caused by reduced levels of the survival motor neuron (SMN) protein and is characterized by degeneration of the alpha motor neurons in the spinal cord that results in muscle weakness and denervation atrophy. We have developed a translational research program for SMA. The research is multi-faceted and uses biochemistry, cell biology, molecular biology, and animal modeling. We use these approaches to decipher SMN function within nerve and muscle, the two tissues affected in SMA. We have also generated a hypomorphic allelic series of Smn mutations in mice that mimic human SMN2 splicing.

Not applicable

Education/Academic qualification

PhD, Ohio State University

… → 1995

Research interests

  • Developmental Genetics
  • Developmental Neurobiology
  • Gene Regulation
  • Gene Therapy
  • MicroRNA
  • Molecular Genetics
  • Muscular Dystrophy
  • Neuroscience
  • Pharmacokinetics
  • Spinal Muscular Atrophy

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Grants

Research Output

  • 1723 Citations
  • 36 Article
  • 3 Review article
  • 1 Chapter

Hyperexcitability precedes motoneuron loss in the Smn2B/ - mouse model of spinal muscular atrophy

Quinlan, K. A., Reedich, E. J., Arnold, W. D., Puritz, A. C., Cavarsan, C. F., Heckman, C. J. & DiDonato, C. J., 2019, In : Journal of neurophysiology. 122, 4, p. 1297-1311 15 p.

Research output: Contribution to journalArticle

  • 1 Scopus citations

    Permittivity of ex vivo healthy and diseased murine skeletal muscle from 10 kHz to 1 MHz

    Nagy, J. A., DiDonato, C. J., Rutkove, S. B. & Sanchez, B., Dec 1 2019, In : Scientific Data. 6, 1, 37.

    Research output: Contribution to journalArticle

    Open Access
  • 3 Scopus citations
  • In vitro and in vivo effects of 2,4 diaminoquinazoline inhibitors of the decapping scavenger enzyme DcpS: Context-specific modulation of SMN transcript levels

    Cherry, J. J., Didonato, C. J., Androphy, E. J., Calo, A., Potter, K., Custer, S. K., Du, S., Foley, T. L., Gopalsamy, A., Reedich, E. J., Gordo, S. M., Gordon, W., Hosea, N., Jones, L. H., Krizay, D. K., Larosa, G., Li, H., Mathur, S., Menard, C. A., Patel, P. & 5 others, Ramos-Zayas, R., Rietz, A., Rong, H., Zhang, B. & Tones, M. A., Sep 2017, In : PloS one. 12, 9, e0185079.

    Research output: Contribution to journalArticle

  • 6 Scopus citations