Perspectives on models of spinal muscular atrophy for drug discovery

Drug Discovery Today: Disease Models

Volumn 1, Issue 2, 2004, Pages 151-156

  Butchbach, Matthew E R ^a   Burghes, Arthur H M ^a,b  

^a OHIO STATE UNIVERSITY   (United States)

^b THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN;

AUTOSOMAL RECESSIVE DISORDER; COMPARATIVE STUDY; COMPUTER MODEL; DISEASE MODEL; EXPERIMENTAL MODEL; IN VITRO STUDY; IN VIVO STUDY; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; REVIEW; SPINAL MUSCULAR ATROPHY; ZEBRA FISH;

EID: 15544385728     PISSN: 17406757     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ddmod.2004.07.001     Document Type: Review

References (20)

1. Monani, U.R. et al. (2000) Animal models of spinal muscular atrophy. Hum. Mol Genet. 9, 2451-2457
2. Baron-Delage, S. et al. (2000) Interferons and IRF-1 induce expression of the survival motor neuron (SMN) genes. Mol. Med. 6, 957-968
3. Majumder, S. et al. (2004) Identification of a novel cyclic AMP response element (CRE-II) and the role of CREB-1 in the cAMP-induced expression of the survival motor neuron (SMN) gene. J. Biol. Chem. 279, 14803-14811
4. Zhang, M.L. et al. (2001) An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA. Gene Ther. 8, 1532-1538
5. Andreassi, C. et al. (2001) Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients. Hum. Mol. Genet. 10, 2841-2849
6. Chang, J.G. et al. (2001) Treatment of spinal muscular atrophy by sodium butyrate. Proc. Natl. Acad. Sci. USA 98, 9808-9813
7. Andreassi, C. et al. (2004) Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. Eur. J. Hum. Genet. 12, 59-65
8. Sumner, C.J. et al. (2003) Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Ann. Neurol. 54, 647-654
9. Brichta, L. et al. (2003) Valproic acid increases the SMN2 protein level: a well-known drug as potential therapy for spinal muscular atrophy. Hum. Mol. Genet. 12, 2481-2489
10. Nicholson, S.J. et al. (2000) Mice, the motor system and human motor neuron pathology. Mamm. Genome 1041-1052
11. Schrank, B. et al. (1997) Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos. Proc. Natl. Acad. Sci. USA 94, 9920-9925
12. Hsieh-Li, H.M. et al. (2000) A mouse model for spinal muscular atrophy. Nat. Genet. 24, 66-70
13. Jablonka, S. et al. (2000) Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III. Hum. Mol. Genet. 9, 341-346
14. -/- mice and results in a mouse with spinal muscular atrophy. Hum. Mol. Genet. 9, 333-339
15. Frugier, T. et al. (2000) Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy. Hum. Mol. Genet. 9, 849-858
16. Cifuentes-Diaz, C. et al. (2001) Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy. J. Cell Biol. 152, 1107-1114
17. Monani, U.R. et al. (2003) A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy. J. Cell Biol. 160, 41-52
18. McWhorter, M.L. et al. (2003) Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding. J. Cell Biol. 162, 919-931
19. Rossoll, W. et al. (2003) Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of β-actin mRNA in growth cones of motoneurons. J. Cell Biol. 163, 801-812
20. Zhang, H.L. et al. (2003) Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization. J. Neurosci. 23, 6627-6637