Human Molecular Genetics, Vol 6, 1205-1214, Copyright © 1997 by Oxford University Press
DD Coovert, TT Le, PE McAndrew, J Strasswimmer, TO Crawford, JR Mendell, SE Coulson, EJ Androphy, TW Prior and AH Burghes
The 38 kDa survival motor neuron (SMN) protein is encoded by two
ubiquitously expressed genes: telomeric SMN (SMN(T)) and centromeric SMN
(SMN(C)). Mutations in SMN(T), but not SMN(C), cause proximal spinal
muscular atrophy (SMA), an autosomal recessive disorder that results in
loss of motor neurons. SMN is found in the cytoplasm and nucleus. The
nuclear form is located in structures termed gems. Using a panel of
anti-SMN antibodies, we demonstrate that the SMN protein is expressed from
both the SMN(T) and SMN(C) genes. Western blot analysis of fibroblasts from
SMA patients with various clinical severities of SMA showed a moderate
reduction in the amount of SMN protein, particularly in type I (most
severe) patients. Immunocytochemical analysis of SMA patient fibroblasts
indicates a significant reduction in the number of gems in type I SMA
patients and a correlation of the number of gems with clinical severity.
This correlation to phenotype using primary fibroblasts may serve as a
useful diagnostic tool in an easily accessible tissue. SMN is expressed at
high levels in brain, kidney and liver, moderate levels in skeletal and
cardiac muscle, and low levels in fibroblasts and lymphocytes. In SMA
patients, the SMN level was moderately reduced in muscle and lymphoblasts.
In contrast, SMN was expressed at high levels in spinal cord from normals
and non- SMA disease controls, but was reduced 100-fold in spinal cord from
type I patients. The marked reduction of SMN in type I SMA spinal cords is
consistent with the features of this motor neuron disease. We suggest that
disruption of SMN(T) in type I patients results in loss of SMN from motor
neurons, resulting in the degeneration of these neurons.
ARTICLES
The survival motor neuron protein in spinal muscular atrophy
Department of Molecular Genetics, College of Biological Sciences, Ohio State University, Columbus 43210, USA.
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J. H. Veldink, S. Kalmijn, A. H. Van der Hout, H. H. Lemmink, G. J. Groeneveld, C. Lummen, H. Scheffer, J.H.J. Wokke, and L. H. Van den Berg SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS Neurology, September 27, 2005; 65(6): 820 - 825. [Abstract] [Full Text] [PDF]
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L. Gangwani, R. A. Flavell, and R. J. Davis ZPR1 Is Essential for Survival and Is Required for Localization of the Survival Motor Neurons (SMN) Protein to Cajal Bodies Mol. Cell. Biol., April 1, 2005; 25(7): 2744 - 2756. [Abstract] [Full Text] [PDF]
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T. T. Le, L. T. Pham, M. E.R. Butchbach, H. L. Zhang, U. R. Monani, D. D. Coovert, T. O. Gavrilina, L. Xing, G. J. Bassell, and A. H.M. Burghes 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., March 15, 2005; 14(6): 845 - 857. [Abstract] [Full Text] [PDF]
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T. J. Golembe, J. Yong, D. J. Battle, W. Feng, L. Wan, and G. Dreyfuss Lymphotropic Herpesvirus saimiri Uses the SMN Complex To Assemble Sm Cores on Its Small RNAs Mol. Cell. Biol., January 15, 2005; 25(2): 602 - 611. [Abstract] [Full Text] [PDF]
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S. Majumder, S. Varadharaj, K. Ghoshal, U. Monani, A. H. M. Burghes, and S. T. Jacob 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., April 9, 2004; 279(15): 14803 - 14811. [Abstract] [Full Text] [PDF]
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J. Zou, F. Barahmand-pour, M. L. Blackburn, Y. Matsui, H. A. Chansky, and L. Yang Survival Motor Neuron (SMN) Protein Interacts with Transcription Corepressor mSin3A J. Biol. Chem., April 9, 2004; 279(15): 14922 - 14928. [Abstract] [Full Text] [PDF]
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H. L. Zhang, F. Pan, D. Hong, S. M. Shenoy, R. H. Singer, and G. J. Bassell Active Transport of the Survival Motor Neuron Protein and the Role of Exon-7 in Cytoplasmic Localization J. Neurosci., July 23, 2003; 23(16): 6627 - 6637. [Abstract] [Full Text] [PDF]
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Y. B. Chan, I. Miguel-Aliaga, C. Franks, N. Thomas, B. Trulzsch, D. B. Sattelle, K. E. Davies, and M. van den Heuvel Neuromuscular defects in a Drosophila survival motor neuron gene mutant Hum. Mol. Genet., June 15, 2003; 12(12): 1367 - 1376. [Abstract] [Full Text] [PDF]
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J. E. Sleeman, L. Trinkle-Mulcahy, A. R. Prescott, S. C. Ogg, and A. I. Lamond Cajal body proteins SMN and Coilin show differential dynamic behaviour in vivo J. Cell Sci., May 15, 2003; 116(10): 2039 - 2050. [Abstract] [Full Text] [PDF]
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H. Miyaso, M. Okumura, S. Kondo, S. Higashide, H. Miyajima, and K. Imaizumi An Intronic Splicing Enhancer Element in Survival Motor Neuron (SMN) Pre-mRNA J. Biol. Chem., April 25, 2003; 278(18): 15825 - 15831. [Abstract] [Full Text] [PDF]
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L. A. Skordis, M. G. Dunckley, B. Yue, I. C. Eperon, and F. Muntoni Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts PNAS, April 1, 2003; 100(7): 4114 - 4119. [Abstract] [Full Text] [PDF]
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N. A. Faustino and T. A. Cooper Pre-mRNA splicing and human disease Genes & Dev., February 15, 2003; 17(4): 419 - 437. [Full Text] [PDF]
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U. R. Monani, M. T. Pastore, T. O. Gavrilina, S. Jablonka, T. T. Le, C. Andreassi, J. M. DiCocco, C. Lorson, E. J. Androphy, M. Sendtner, et al. 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., January 2, 2003; 160(1): 41 - 52. [Abstract] [Full Text] [PDF]
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F.-M. Boisvert, J. Cote, M.-C. Boulanger, P. Cleroux, F. Bachand, C. Autexier, and S. Richard Symmetrical dimethylarginine methylation is required for the localization of SMN in Cajal bodies and pre-mRNA splicing J. Cell Biol., December 23, 2002; 159(6): 957 - 969. [Abstract] [Full Text] [PDF]
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S. Vyas, C. Bechade, B. Riveau, J. Downward, and A. Triller Involvement of survival motor neuron (SMN) protein in cell death Hum. Mol. Genet., October 15, 2002; 11(22): 2751 - 2764. [Abstract] [Full Text] [PDF]
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S. Massenet, L. Pellizzoni, S. Paushkin, I. W. Mattaj, and G. Dreyfuss The SMN Complex Is Associated with snRNPs throughout Their Cytoplasmic Assembly Pathway Mol. Cell. Biol., September 15, 2002; 22(18): 6533 - 6541. [Abstract] [Full Text] [PDF]
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Y. Hofmann and B. Wirth hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-{beta}1 Hum. Mol. Genet., August 15, 2002; 11(17): 2037 - 2049. [Abstract] [Full Text] [PDF]
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L. Fan and L. R. Simard Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development Hum. Mol. Genet., July 1, 2002; 11(14): 1605 - 1614. [Abstract] [Full Text] [PDF]
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H. Miyajima, H. Miyaso, M. Okumura, J. Kurisu, and K. Imaizumi Identification of a Cis-acting Element for the Regulation of SMN Exon 7 Splicing J. Biol. Chem., June 21, 2002; 277(26): 23271 - 23277. [Abstract] [Full Text] [PDF]
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S. Lefebvre, P. Burlet, L. Viollet, S. Bertrandy, C. Huber, C. Belser, and A. Munnich A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy Hum. Mol. Genet., May 1, 2002; 11(9): 1017 - 1027. [Abstract] [Full Text] [PDF]
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P. J. Young, C. J. DiDonato, D. Hu, R. Kothary, E. J. Androphy, and C. L. Lorson SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2{beta}1 Hum. Mol. Genet., March 1, 2002; 11(5): 577 - 587. [Abstract] [Full Text] [PDF]
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W. Rossoll, A.-K. Kroning, U.-M. Ohndorf, C. Steegborn, S. Jablonka, and M. Sendtner Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons? Hum. Mol. Genet., January 1, 2002; 11(1): 93 - 105. [Abstract] [Full Text] [PDF]
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C. J. DiDonato, C. L. Lorson, Y. De Repentigny, L. Simard, C. Chartrand, E. J. Androphy, and R. Kothary Regulation of murine survival motor neuron (Smn) protein levels by modifying Smn exon 7 splicing Hum. Mol. Genet., November 1, 2001; 10(23): 2727 - 2736. [Abstract] [Full Text] [PDF]
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C. Andreassi, J. Jarecki, J. Zhou, D. D. Coovert, U. R. Monani, X. Chen, M. Whitney, B. Pollok, M. Zhang, E. Androphy, et al. Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients Hum. Mol. Genet., November 1, 2001; 10(24): 2841 - 2849. [Abstract] [Full Text] [PDF]
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M. D. Hebert, P. W. Szymczyk, K. B. Shpargel, and A. G. Matera Coilin forms the bridge between Cajal bodies and SMN, the Spinal Muscular Atrophy protein Genes & Dev., October 15, 2001; 15(20): 2720 - 2729. [Abstract] [Full Text] [PDF]
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J.-G. Chang, H.-M. Hsieh-Li, Y.-J. Jong, N. M. Wang, C.-H. Tsai, and H. Li Treatment of spinal muscular atrophy by sodium butyrate PNAS, August 14, 2001; 98(17): 9808 - 9813. [Abstract] [Full Text] [PDF]
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L. Pellizzoni, B. Charroux, J. Rappsilber, M. Mann, and G. Dreyfuss A Functional Interaction between the Survival Motor Neuron Complex and RNA Polymerase II J. Cell Biol., January 8, 2001; 152(1): 75 - 86. [Abstract] [Full Text] [PDF]
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D. A. Kerr, J. P. Nery, R. J. Traystman, B. N. Chau, and J. M. Hardwick Survival motor neuron protein modulates neuron-specific apoptosis PNAS, November 8, 2000; (2000) 230364197. [Abstract] [Full Text]
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U. R. Monani, D. D. Coovert, and A. H.M. Burghes Animal models of spinal muscular atrophy Hum. Mol. Genet., October 1, 2000; 9(16): 2451 - 2457. [Abstract] [Full Text] [PDF]
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Y. Hofmann, C. L. Lorson, S. Stamm, E. J. Androphy, and B. Wirth Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2) PNAS, August 6, 2000; (2000) 160181697. [Abstract] [Full Text]
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 D. D COOVERT, T. T LE, G. E MORRIS, N. T. MAN, M. KRALEWSKI, M. SENDTNER, and A. H M BURGHES Does the survival motor neuron protein (SMN) interact with Bcl-2? J. Med. Genet., July 1, 2000; 37(7): 536 - 539. [Full Text]
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L. Campbell, K. M. D. Hunter, P. Mohaghegh, J. M. Tinsley, M. A. Brasch, and K. E. Davies Direct interaction of Smn with dp103, a putative RNA helicase: a role for Smn in transcription regulation? Hum. Mol. Genet., April 12, 2000; 9(7): 1093 - 1100. [Abstract] [Full Text] [PDF]
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N. Owen, C. L. Doe, J. Mellor, and K. E. Davies Characterization of the Schizosaccharomyces pombe orthologue of the human survival motor neuron (SMN) protein Hum. Mol. Genet., March 22, 2000; 9(5): 675 - 684. [Abstract] [Full Text] [PDF]
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B. Charroux, L. Pellizzoni, R. A. Perkinson, J. Yong, A. Shevchenko, M. Mann, and G. Dreyfuss Gemin4: A Novel Component of the Smn Complex That Is Found in Both Gems and Nucleoli J. Cell Biol., March 20, 2000; 148(6): 1177 - 1186. [Abstract] [Full Text] [PDF]
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U. R. Monani, M. Sendtner, D. D. Coovert, D. W. Parsons, C. Andreassi, T. T. Le, S. Jablonka, B. Schrank, W. Rossol, T. W. Prior, 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 Hum. Mol. Genet., February 12, 2000; 9(3): 333 - 339. [Abstract] [Full Text] [PDF]
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S. Jablonka, B. Schrank, M. Kralewski, W. Rossoll, and M. Sendtner 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., February 12, 2000; 9(3): 341 - 346. [Abstract] [Full Text] [PDF]
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C. L. Lorson and E. J. Androphy An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN Hum. Mol. Genet., January 22, 2000; 9(2): 259 - 265. [Abstract] [Full Text] [PDF]
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S. Pagliardini, A. Giavazzi, V. Setola, C. Lizier, M. Di Luca, S. DeBiasi, and G. Battaglia Subcellular localization and axonal transport of the survival motor neuron (SMN) protein in the developing rat spinal cord Hum. Mol. Genet., January 1, 2000; 9(1): 47 - 56. [Abstract] [Full Text] [PDF]
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T. Giesemann, S. Rathke-Hartlieb, M. Rothkegel, J. W. Bartsch, S. Buchmeier, B. M. Jockusch, and H. Jockusch A Role for Polyproline Motifs in the Spinal Muscular Atrophy Protein SMN. PROFILINS BIND TO AND COLOCALIZE WITH SMN IN NUCLEAR GEMS J. Biol. Chem., December 31, 1999; 274(53): 37908 - 37914. [Abstract] [Full Text] [PDF]
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B. Charroux, L. Pellizzoni, R. A. Perkinson, A. Shevchenko, M. Mann, and G. Dreyfuss Gemin3: A Novel Dead Box Protein That Interacts with Smn, the Spinal Muscular Atrophy Gene Product, and Is a Component of Gems J. Cell Biol., December 13, 1999; 147(6): 1181 - 1194. [Abstract] [Full Text] [PDF]
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L. Pellizzoni, B. Charroux, and G. Dreyfuss SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins PNAS, September 28, 1999; 96(20): 11167 - 11172. [Abstract] [Full Text] [PDF]
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U. R. Monani, C. L. Lorson, D. W. Parsons, T. W. Prior, E. J. Androphy, A. H. M. Burghes, and J. D. McPherson A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2 Hum. Mol. Genet., July 1, 1999; 8(7): 1177 - 1183. [Abstract] [Full Text] [PDF]
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J. Strasswimmer, C. L. Lorson, D. E. Breiding, J. J. Chen, T. Le, A. H. M. Burghes, and E. J. Androphy Identification of survival motor neuron as a transcriptional activator-binding protein Hum. Mol. Genet., July 1, 1999; 8(7): 1219 - 1226. [Abstract] [Full Text] [PDF]
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C. L. Lorson, E. Hahnen, E. J. Androphy, and B. Wirth A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy PNAS, May 25, 1999; 96(11): 6307 - 6311. [Abstract] [Full Text] [PDF]
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K. North NEW PERSPECTIVES IN PEDIATRIC NEUROMUSCULAR DISORDERS Hotel Intercontinental Sydney, Sydney, Australia, August 28, 1998 J Child Neurol, January 1, 1999; 14(1): 26 - 57. [PDF]
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I. Biros and S. Forrest Spinal muscular atrophy: untangling the knot? J. Med. Genet., January 1, 1999; 36(1): 1 - 8. [Abstract] [Full Text]
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E. F. Tizzano, C. Cabot, and M. Baiget Cell-Specific Survival Motor Neuron Gene Expression during Human Development of the Central Nervous System : Implications for the Pathogenesis of Spinal Muscular Atrophy Am. J. Pathol., August 1, 1998; 153(2): 355 - 361. [Abstract] [Full Text] [PDF]
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 H Stewart, A Wallace, J McGaughran, R Mountford, and H Kingston Molecular diagnosis of spinal muscular atrophy Arch. Dis. Child., June 1, 1998; 78(6): 531 - 535. [Abstract] [Full Text]
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J. W. Francis, A. W. Sandrock, P. G. Bhide, J.-P. Vonsattel, and R. H. Brown Jr. Heterogeneity of subcellular localization and electrophoretic mobility of survival motor neuron (SMN) protein in mammalian neural cells and tissues PNAS, May 26, 1998; 95(11): 6492 - 6497. [Abstract] [Full Text] [PDF]
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S. Paushkin, B. Charroux, L. Abel, R. A. Perkinson, L. Pellizzoni, and G. Dreyfuss The Survival Motor Neuron Protein of Schizosacharomyces pombe. CONSERVATION OF SURVIVAL MOTOR NEURON INTERACTION DOMAINS IN DIVERGENT ORGANISMS J. Biol. Chem., July 28, 2000; 275(31): 23841 - 23846. [Abstract] [Full Text] [PDF]
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J. Wang and G. Dreyfuss A Cell System with Targeted Disruption of the SMN Gene. FUNCTIONAL CONSERVATION OF THE SMN PROTEIN AND DEPENDENCE OF Gemin2 ON SMN J. Biol. Chem., March 23, 2001; 276(13): 9599 - 9605. [Abstract] [Full Text] [PDF]
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J. Wang and G. Dreyfuss Characterization of Functional Domains of the SMN Protein in Vivo J. Biol. Chem., November 21, 2001; 276(48): 45387 - 45393. [Abstract] [Full Text] [PDF]
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S. R. Lim and K. J. Hertel Modulation of Survival Motor Neuron Pre-mRNA Splicing by Inhibition of Alternative 3' Splice Site Pairing J. Biol. Chem., November 21, 2001; 276(48): 45476 - 45483. [Abstract] [Full Text] [PDF]
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P. J. Young, P. M. Day, J. Zhou, E. J. Androphy, G. E. Morris, and C. L. Lorson A Direct Interaction between the Survival Motor Neuron Protein and p53 and Its Relationship to Spinal Muscular Atrophy J. Biol. Chem., January 18, 2002; 277(4): 2852 - 2859. [Abstract] [Full Text] [PDF]
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Y. Hofmann, C. L. Lorson, S. Stamm, E. J. Androphy, and B. Wirth Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2) PNAS, August 15, 2000; 97(17): 9618 - 9623. [Abstract] [Full Text] [PDF]
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D. A. Kerr, J. P. Nery, R. J. Traystman, B. N. Chau, and J. M. Hardwick Survival motor neuron protein modulates neuron-specific apoptosis PNAS, November 21, 2000; 97(24): 13312 - 13317. [Abstract] [Full Text] [PDF]
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