Stem cell model of spinal muscular atrophy

Archives of Neurology

Volumn 67, Issue 6, 2010, Pages 665-669

  Ebert, Allison D ^a   Svendsen, Clive N ^a,b  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

^b CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EMBRYONIC STEM CELL; EXPERIMENTAL MODEL; HUMAN; NONHUMAN; PLURIPOTENT STEM CELL; PRIORITY JOURNAL; REVIEW; SKIN FIBROBLAST; SPINAL MUSCULAR ATROPHY; STEM CELL TRANSPLANTATION;

ANIMALS; CELL DIFFERENTIATION; FIBROBLASTS; HUMANS; MUSCULAR ATROPHY, SPINAL; PLURIPOTENT STEM CELLS;

EID: 77953623111     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2010.89     Document Type: Review

References (33)

1. Thomson JA, Itskovitz-Eldor J, Shapiro SS, et al. Embryonic stem cell lines derived from human blastocysts [published correction appears in Science. 1998;282(5395):1827]. Science. 1998;282(5391):1145-1147.
2. Murry CE, Keller G. Differentiation of embryonic stem cells to clinically relevant populations: lessons from embryonic development. Cell. 2008;132(4):661-680. (Pubitemid 351260059)
3. Müller LU, Daley GQ, Williams DA. Upping the ante: recent advances in direct reprogramming. Mol Ther. 2009;17(6):947-953.
4. Dimos JT, Rodolfa KT, Niakan KK, et al. Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons. Science. 2008;321(5893):1218-1221.
5. Park IH, Arora N, Huo H, et al. Disease-specific induced pluripotent stem cells. Cell. 2008;134(5):877-886.
6. Soldner F, Hockemeyer D, Beard C, et al. Parkinson's disease patient-derived induced pluripotent stem cells free of viral reprogramming factors. Cell. 2009;136(5):964-977.
7. Ebert AD, Yu JY, Rose FF Jr, et al. Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature. 2009;457(7227):277-280.
8. Lefebvre S, Bürglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80(1):155-165.
9. Rochette CF, Gilbert N, Simard LR. SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens. Hum Genet. 2001;108(3):255-266.
10. Pellizzoni L, Yong J, Dreyfuss G. Essential role for the SMN complex in the specificity of snRNP assembly. Science. 2002;298(5599):1775-1779. (Pubitemid 35404118)
11. Fischer U, Liu Q, Dreyfuss G. The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. Cell. 1997;90(6):1023-1029. (Pubitemid 27408516)
12. Liu Q, Fischer U, Wang F, Dreyfuss G. The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. Cell. 1997;90(6):1013-1021. (Pubitemid 27408515)
13. Monani UR, Lorson CL, Parsons DW, et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet. 1999;8(7):1177-1183.
14. Lorson CL, Hahnen E, Androphy EJ, Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci U S A. 1999;96(11):6307-6311. (Pubitemid 29256661)
15. Lefebvre S, Burlet P, Liu Q, et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet. 1997;16(3):265-269. (Pubitemid 27280210)
16. Baughan T, Shababi M, Coady TH, Dickson AM, Tullis GE, Lorson CL. Stimulating full-length SMN2 expression by delivering bifunctional RNAs via a viral vector. Mol Ther. 2006;14(1):54-62.
17. Schrank B, Götz R, Gunnersen JM, et al. 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 U S A. 1997;94(18):9920-9925.
18. Hsieh-Li HM, Chang JG, Jong YJ, et al. A mousemodel for spinal muscular atrophy. Nat Genet. 2000;24(1):66-70.
19. Monani UR, Sendtner M, Coovert DD, et al. The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy [published correction appears in Hum Mol Genet. 2007;16(21):2648]. Hum Mol Genet. 2000;9(3):333-339.
20. Le TT, Pham LT, Butchbach ME, et al. SMN Delta 7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN. Hum Mol Genet. 2005;14(6):845-857.
21. Guettier-Sigrist S, Coupin G, Braun S, Warter JM, Poindron P. Muscle could be the therapeutic target in SMA treatment. J Neurosci Res. 1998;53(6):663-669. (Pubitemid 28423874)
22. Van Damme P, Bogaert E, Dewil M, et al. Astrocytes regulate GluR2 expression in motor neurons and their vulnerability to excitotoxicity. Proc Natl Acad Sci U S A. 2007;104(37):14825-14830.
23. Björklund A, Kirik D, Rosenblad C, Georgievska B, Lundberg C, Mandel RJ. Towards a neuroprotective gene therapy for Parkinson's disease: use of adenovirus, AAV and lentivirus vectors for gene transfer of GDNF to the nigrostriatal system in the rat Parkinson model. Brain Res. 2000;886(1-2):82-98.
24. Azzouz M, Le T, Ralph GS, et al. Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy. J Clin Invest. 2004;114(12):1726-1731. (Pubitemid 40385528)
25. Foust KD, Wang X, McGovern VL, et al. Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nat Biotechnol. 2010;28(3):271-274.
26. Hanna J, Wernig M, Markoulaki S, et al. Treatment of sickle cell anemia mouse model with iPS cells generated from autologous skin. Science. 2007;318(5858):1920-1923.
27. Deshpande DM, Kim YS, Martinez T, et al. Recovery from paralysis in adult rats using embryonic stem cells. Ann Neurol. 2006;60(1):32-44.
28. Coovert DD, Le TT, McAndrew PE, et al. The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet. 1997;6(8):1205-1214.
29. Brichta L, Hofmann Y, Hahnen E, et al. Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy. Hum Mol Genet. 2003;12(19):2481-2489. (Pubitemid 37220412)
30. Mattis VB, Rai R, Wang JH, Chang CW, Coady T, Lorson CL. Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts. Hum Genet. 2006;120(4):589-601. (Pubitemid 44669792)
31. Sumner CJ, Huynh TN, Markowitz JA, et al. Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Ann Neurol. 2003;54(5):647-654.
32. Wolstencroft EC, Mattis V, Bajer AA, Young PJ, Lorson CL. A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels. Hum Mol Genet. 2005;14(9):1199-1210. (Pubitemid 40613908)
33. Tsai LK, Yang CC, Hwu WL, Li H. Valproic acid treatment in six patients with spinal muscular atrophy. Eur J Neurol. 2007;14(12):e8-e9.