Grants per year
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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Network
Grants
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Long-term effect of troponin activators for spinal muscular atrophy
National Institute of Neurological Disorders and Stroke
6/1/17 → 5/31/21
Project: Research project
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Long-term effect of troponin activators for spinal muscular atrophy
National Institute of Neurological Disorders and Stroke
6/1/17 → 5/31/21
Project: Research project
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skeletal muscle activators as potential modulators of muscle weakness in SMA
5/1/17 → 5/1/21
Project: Research project
Research Output
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Combination molecular therapies for type 1 spinal muscular atrophy
Harada, Y., Rao, V. K., Arya, K., Kuntz, N. L., DiDonato, C. J., Napchan-Pomerantz, G., Agarwal, A., Stefans, V., Katsuno, M. & Veerapandiyan, A., Oct 1 2020, In: Muscle and Nerve. 62, 4, p. 550-554 5 p.Research output: Contribution to journal › Article › peer-review
2 Scopus citations -
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 journal › Article › peer-review
4 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 journal › Article › peer-review
Open Access9 Scopus citations -
Friedreich's Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases
Rao, V. K., DiDonato, C. J. & Larsen, P. D., 2018, In: Case Reports in Neurological Medicine. 2018, p. 8587203Research output: Contribution to journal › Article › peer-review
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Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases
Rao, VK., DiDonato, CJ. & Larsen, PD., Aug 9 2018, In: Case Reports in Neurological Medicine. 2018, https://doi.org/10.1155/2018/8587203Research output: Contribution to journal › Article