Monani ur m sendtner dd coovert dw parsons c

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Monani UR, M Sendtner, DD Coovert, DW Parsons, C Andreassi TT Le, S Jablonka, B Schrank, W Rossol, TW Prior, GE Morris and AH Burghes (2000b) The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. Hum. Mol. Genet. 9 , 333-339. Mosmann T (1983) Rapid colorimetric assay for cellular growth and survival: application to proliferation and cyto- toxicity assays. J. Immunol. Meth. 65 , 55-63. Murayama S, TW Bouldin and K Suzuki (1991) Immunocytochemical and ultrastructural studies of Werdnig-Hoffmann disease. Acta Neuropathol. 81 , 408-417. Nielsen KB, S Sørensen, L Cartegni, TJ Corydon, TK Doktor, LD Schroeder, LS Reinert, O Elpeleg, AR Krainer, N Gregersen, J Kjems and BS Andresen (2007) Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer. Am. J. Hum. Genet. 80 , 416-432. Rossoll W, S Jablonka, C Andreassi, AK Kroning, K Karle, UR Monani and M Sendtner (2003) Smn, the spinal mus- cular atrophy-determining gene product, modulates axon growth and localization of β -actin mRNA in growth cones of motoneurons. J. Cell Biol. 163 , 801-812. Schrank B, R Gotz, JM Gunnersen, JM Ure, KV Toyka, AG Smith and M Sendtner (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. Setola V, M Terao, D Locatelli, S Bassanini, E Garattini and G Battaglia (2007) Axonal-SMN (a-SMN), a protein iso- form of the survival motor neuron gene, is specifically involved in axonogenesis. Proc. Natl. Acad. Sci. USA 104 , 1959-1964. Soler-Botija C, I Ferrer, I Gich, M Baiget and EF Tizzano (2002) Neuronal death is enhanced and begins during foetal development in type I spinal muscular atrophy spinal cord. Brain 125 , 1624-1634. Talbot K and KE Davies (2001) Spinal muscular atrophy. Semin. Neurol. 21 , 189-197. Toth G, H Yang, RA Anguelov, J Vettraino, Y Wang and G Acsadi (2002) Gene transfer of glial cell-derived neu- rotrophic factor and cardiotrophin-1 protects PC12 cells from injury: involvement of the phosphatidylinositol 3-kinase and mitogen-activated protein kinase kinase path- ways. J. Neurosci. Res. 69 , 622-632. Trulzsch B, K Davies and M Wood (2004) Survival of motor neuron gene downregulation by RNAi: towards a cell culture model of spinal muscular atrophy. Brain Res. Mol. Brain Res. 120 , 145-150. van Bergeijk J, K Haastert, C Grothe and P Claus (2006) Valproic acid promotes neurite outgrowth in PC12 cells independent from regulation of the survival of motoneuron protein. Chem. Biol. Drug Design 67 , 244-247. van Bergeijk J, K Rydel-Konecke, C Grothe and P Claus (2007) The spinal muscular atrophy gene product regulates neurite outgrowth: importance of the C terminus. FASEB J.
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