The purpose of this research program is to investigate the mechanisms of hereditary neurological diseases, with the ultimate intent of developing effective treatments for these disorders. The research focuses on three specific motor neuron diseases: autosomal recessive spinal muscular atrophy (SMA) due to deficiency of the protein SMN, X-linked spinal and bulbar muscular atrophy (SBMA) due to polyglutamine expansion in the androgen receptor, and distal spinal muscular atrophy/Charcot-Marie-Tooth disease type 2D (CMT2D) caused by mutations in tRNA synthetase. Specific research accomplishments in the past year include the following: (1) collaboration in studies of histone deacteylase inhibition and autophagy in an animal model of SBMA, (2) characterization of the role of IGF-1 and Akt in a cell culture model of SBMA, (3) evaluation of the efficacy of histone deacetylase treatment in a mouse model of SMA, (4) collaboration in studies of the disease mechanisms of CMT2D and other hereditary forms of neuropathy and distal spinal muscular atrophy.
| Ranganathan, Srikanth; Harmison, George G; Meyertholen, Kristin et al. (2009) Mitochondrial abnormalities in spinal and bulbar muscular atrophy. Hum Mol Genet 18:27-42 |
| Narver, Heather L; Kong, Lingling; Burnett, Barrington G et al. (2008) Sustained improvement of spinal muscular atrophy mice treated with trichostatin A plus nutrition. Ann Neurol 64:465-70 |
| Griswold, Anthony J; Chang, Karen T; Runko, Alexander P et al. (2008) Sir2 mediates apoptosis through JNK-dependent pathways in Drosophila. Proc Natl Acad Sci U S A 105:8673-8 |
| Bakowska, Joanna C; Wang, Heng; Xin, Baozhong et al. (2008) Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism? Arch Neurol 65:520-4 |
| Burnett, Barrington G; Andrews, Jaime; Ranganathan, Srikanth et al. (2008) Expression of expanded polyglutamine targets profilin for degradation and alters actin dynamics. Neurobiol Dis 30:365-74 |
| Burnett, Barrington G; Sumner, Charlotte J (2008) Targeting splicing in spinal muscular atrophy. Ann Neurol 63:3-6 |
| Pandey, Udai Bhan; Nie, Zhiping; Batlevi, Yakup et al. (2007) HDAC6 rescues neurodegeneration and provides an essential link between autophagy and the UPS. Nature 447:859-63 |
| Palazzolo, Isabella; Burnett, Barrington G; Young, Jessica E et al. (2007) Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity. Hum Mol Genet 16:1593-603 |
| Avila, Amy M; Burnett, Barrington G; Taye, Addis A et al. (2007) Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J Clin Invest 117:659-71 |
| Antonellis, Anthony; Lee-Lin, Shih-Queen; Wasterlain, Amy et al. (2006) Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. J Neurosci 26:10397-406 |
Showing the most recent 10 out of 12 publications
