Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow A corrigendum has been published
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (180)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Monani, U. R.
Right arrow Articles by Burghes, A. H.M.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Monani, U. R.
Right arrow Articles by Burghes, A. H.M.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, 2000, Vol. 9, No. 3 333-339
© 2000 Oxford University Press

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn–/– mice and results in a mouse with spinal muscular atrophy

Umrao R. Monani1, Michael Sendtner5,+, Daniel D. Coovert1,+, D. William Parsons2, Catia Andreassi1, Thanh T. Le1, Sibylle Jablonka5, Berthold Schrank5, Wilfred Rossol5, Thomas W. Prior2, Glenn E. Morris6 and Arthur H.M. Burghes1,3,4,§

Departments of 1Neurology, 2Pathology and 3Medical Biochemistry, College of Medicine and 4Department of Molecular Genetics, College of Biological Sciences, Ohio State University, Columbus, OH 43210, USA, 5Department of Neurology, University of Würzburg, Josef-Schneider Strasse 11, D-97080 Würzburg, Germany and 6MRIC, Biochemistry Group, Northeast Wales Institute, Wrexham, UK

Proximal spinal muscular atrophy (SMA) is a common motor neuron disease in humans and in its most severe form causes death by the age of 2 years. It is caused by defects in the telomeric survival motor neuron gene (SMN1), but patients retain at least one copy of a highly homologous gene, centromeric SMN (SMN2). Mice possess only one survival motor neuron gene (Smn) whose loss is embryonic lethal. Therefore, to obtain a mouse model of SMA we created transgenic mice that express human SMN2 and mated these onto the null Smn–/– background. We show that Smn–/–;SMN2 mice carrying one or two copies of the transgene have normal numbers of motor neurons at birth, but vastly reduced numbers by postnatal day 5, and subsequently die. This closely resembles a severe type I SMA phenotype in humans and is the first report of an animal model of the disease. Eight copies of the transgene rescues this phenotype in the mice indicating that phenotypic severity can be modulated by SMN2 copy number. These results show that SMA is caused by insufficient SMN production by the SMN2 gene and that increased expression of the SMN2 gene may provide a strategy for treating SMA patients.

+ These authors contributed equally to this work

§ To whom correspondence should be addressed at: Department of Medical Biochemistry, 363 Hamilton Hall, 1645 Neil Avenue, Columbus, OH 43210, USA. Tel: +1 614 688 4710; Fax: +1 614 292 4118; Email: burghes.1@osu.edu


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Hum Mol GenetHome page
M. E.R. Butchbach, J. Singh, M. Thorsteinsdottir, L. Saieva, E. Slominski, J. Thurmond, T. Andresson, J. Zhang, J. D. Edwards, L. R. Simard, et al.
Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy
Hum. Mol. Genet., November 25, 2009; (2009) ddp510v2.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
L. M. Murray, S. Lee, D. Baumer, S. H. Parson, K. Talbot, and T. H. Gillingwater
Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy
Hum. Mol. Genet., November 11, 2009; (2009) ddp506v2.
[Abstract] [Full Text] [PDF]

Home page
 Sci Transl MedHome page
M. L. Hastings, J. Berniac, Y. H. Liu, P. Abato, F. M. Jodelka, L. Barthel, S. Kumar, C. Dudley, M. Nelson, K. Larson, et al.
Tetracyclines That Promote SMN2 Exon 7 Splicing as Therapeutics for Spinal Muscular Atrophy
Science Translational Medicine, November 4, 2009; 1(5): 5ra12 - 5ra12.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
K.-L. Boon, S. Xiao, M. L. McWhorter, T. Donn, E. Wolf-Saxon, M. T. Bohnsack, C. B. Moens, and C. E. Beattie
Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects
Hum. Mol. Genet., October 1, 2009; 18(19): 3615 - 3625.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurosci.Home page
M. Manuel, C. Iglesias, M. Donnet, F. Leroy, C. J. Heckman, and D. Zytnicki
Fast Kinetics, High-Frequency Oscillations, and Subprimary Firing Range in Adult Mouse Spinal Motoneurons
J. Neurosci., September 9, 2009; 29(36): 11246 - 11256.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurosci.Home page
J. H. Williams, R. C. Schray, C. A. Patterson, S. O. Ayitey, M. K. Tallent, and G. J. Lutz
Oligonucleotide-Mediated Survival of Motor Neuron Protein Expression in CNS Improves Phenotype in a Mouse Model of Spinal Muscular Atrophy
J. Neurosci., June 17, 2009; 29(24): 7633 - 7638.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
E. Workman, L. Saieva, T. L. Carrel, T. O. Crawford, D. Liu, C. Lutz, C. E. Beattie, L. Pellizzoni, and A. H.M. Burghes
A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice
Hum. Mol. Genet., June 15, 2009; 18(12): 2215 - 2229.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
T. D. Baughan, A. Dickson, E. Y. Osman, and C. L. Lorson
Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy
Hum. Mol. Genet., May 1, 2009; 18(9): 1600 - 1611.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
K. Meyer, J. Marquis, J. Trub, R. Nlend Nlend, S. Verp, M.-D. Ruepp, H. Imboden, I. Barde, D. Trono, and D. Schumperli
Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation
Hum. Mol. Genet., February 1, 2009; 18(3): 546 - 555.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurosci.Home page
L. Kong, X. Wang, D. W. Choe, M. Polley, B. G. Burnett, M. Bosch-Marce, J. W. Griffin, M. M. Rich, and C. J. Sumner
Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice
J. Neurosci., January 21, 2009; 29(3): 842 - 851.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
M. Briese, B. Esmaeili, S. Fraboulet, E. C. Burt, S. Christodoulou, P. R. Towers, K. E. Davies, and D. B. Sattelle
Deletion of smn-1, the Caenorhabditis elegans ortholog of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespan
Hum. Mol. Genet., January 1, 2009; 18(1): 97 - 104.
[Abstract] [Full Text] [PDF]

Home page
 Mol. Biol. CellHome page
K. B. Shpargel, K. Praveen, T. K. Rajendra, and A. G. Matera
Gemin3 Is an Essential Gene Required for Larval Motor Function and Pupation in Drosophila
Mol. Biol. Cell, January 1, 2009; 20(1): 90 - 101.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
C. G. Bonnemann and R. S. Finkel
Linking SMN to SMA: An assay for the rescuer
Neurology, November 25, 2008; 71(22): 1752 - 1753.
[Full Text] [PDF]

Home page
 NeurologyHome page
N. thi Man, E. Humphrey, L. T. Lam, H. R. Fuller, T. A. Lynch, C. A. Sewry, P. R. Goodwin, A. E. MacKenzie, and G. E. Morris
A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy
Neurology, November 25, 2008; 71(22): 1757 - 1763.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
M. P. Walker, T.K. Rajendra, L. Saieva, J. L. Fuentes, L. Pellizzoni, and A. G. Matera
SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain
Hum. Mol. Genet., November 1, 2008; 17(21): 3399 - 3410.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
V. L. McGovern, T. O. Gavrilina, C. E. Beattie, and A. H.M. Burghes
Embryonic motor axon development in the severe SMA mouse
Hum. Mol. Genet., September 15, 2008; 17(18): 2900 - 2909.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
S. Kariya, G.-H. Park, Y. Maeno-Hikichi, O. Leykekhman, C. Lutz, M. S. Arkovitz, L. T. Landmesser, and U. R. Monani
Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy
Hum. Mol. Genet., August 15, 2008; 17(16): 2552 - 2569.
[Abstract] [Full Text] [PDF]

Home page
 ScienceHome page
G. E. Oprea, S. Krober, M. L. McWhorter, W. Rossoll, S. Muller, M. Krawczak, G. J. Bassell, C. E. Beattie, and B. Wirth
Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy
Science, April 25, 2008; 320(5875): 524 - 527.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
T. O. Gavrilina, V. L. McGovern, E. Workman, T. O. Crawford, R. G. Gogliotti, C. J. DiDonato, U. R. Monani, G. E. Morris, and A. H.M. Burghes
Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect
Hum. Mol. Genet., April 15, 2008; 17(8): 1063 - 1075.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
L. M. Murray, L. H. Comley, D. Thomson, N. Parkinson, K. Talbot, and T. H. Gillingwater
Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy
Hum. Mol. Genet., April 1, 2008; 17(7): 949 - 962.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
H. Tadesse, J. Deschenes-Furry, S. Boisvenue, and J. Cote
KH-type splicing regulatory protein interacts with survival motor neuron protein and is misregulated in spinal muscular atrophy
Hum. Mol. Genet., February 14, 2008; 17(4): 506 - 524.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurosci.Home page
O. Biondi, C. Grondard, S. Lecolle, S. Deforges, C. Pariset, P. Lopes, C. Cifuentes-Diaz, H. Li, B. della Gaspera, C. Chanoine, et al.
Exercise-Induced Activation of NMDA Receptor Promotes Motor Unit Development and Survival in a Type 2 Spinal Muscular Atrophy Model Mouse
J. Neurosci., January 23, 2008; 28(4): 953 - 962.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
T. Novoyatleva, B. Heinrich, Y. Tang, N. Benderska, M. E.R. Butchbach, C. L. Lorson, M. A. Lorson, C. Ben-Dov, P. Fehlbaum, L. Bracco, et al.
Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing
Hum. Mol. Genet., January 1, 2008; 17(1): 52 - 70.
[Abstract] [Full Text] [PDF]

Home page
 JCBHome page
S. Jablonka, M. Beck, B. D. Lechner, C. Mayer, and M. Sendtner
Defective Ca2+ channel clustering in axon terminals disturbs excitability in motoneurons in spinal muscular atrophy
J. Cell Biol., October 8, 2007; 179(1): 139 - 149.
[Abstract] [Full Text] [PDF]

Home page
 J Child NeurolHome page
K. J. Swoboda, J. T. Kissel, T. O. Crawford, M. B. Bromberg, G. Acsadi, G. D'Anjou, K. J. Krosschell, S. P. Reyna, M. K. Schroth, C. B. Scott, et al.
Perspectives on Clinical Trials in Spinal Muscular Atrophy
J Child Neurol, August 1, 2007; 22(8): 957 - 966.
[Abstract] [PDF]

Home page
 J Child NeurolHome page
S. Shanmugarajan, K. J. Swoboda, S. T. Iannaccone, W. L. Ries, B. L. Maria, and S. V. Reddy
Congenital Bone Fractures in Spinal Muscular Atrophy: Functional Role for SMN Protein in Bone Remodeling
J Child Neurol, August 1, 2007; 22(8): 967 - 973.
[Abstract] [PDF]

Home page
 J Child NeurolHome page
C. J. Sumner
Molecular Mechanisms of Spinal Muscular Atrophy
J Child Neurol, August 1, 2007; 22(8): 979 - 989.
[Abstract] [PDF]

Home page
 J Child NeurolHome page
C. E. Beattie, T. L. Carrel, and M. L. McWhorter
Fishing for a Mechanism: Using Zebrafish to Understand Spinal Muscular Atrophy
J Child Neurol, August 1, 2007; 22(8): 995 - 1003.
[Abstract] [PDF]

Home page
 J Child NeurolHome page
A. Schmid and C. J. DiDonato
Animal Models of Spinal Muscular Atrophy
J Child Neurol, August 1, 2007; 22(8): 1004 - 1012.
[Abstract] [PDF]

Home page
 Hum Mol GenetHome page
C.-H. Ting, C.-W. Lin, S.-L. Wen, H.-M. Hsieh-Li, and H. Li
Stat5 constitutive activation rescues defects in spinal muscular atrophy
Hum. Mol. Genet., March 1, 2007; 16(5): 499 - 514.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
L. R. Simard, M-C Belanger, S. Morissette, M. Wride, T. W. Prior, and K. J. Swoboda
Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA
Neurology, February 6, 2007; 68(6): 451 - 456.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
V. Setola, M. Terao, D. Locatelli, S. Bassanini, E. Garattini, and G. Battaglia
Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis
PNAS, February 6, 2007; 104(6): 1959 - 1964.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurosci.Home page
H. Zhang, L. Xing, W. Rossoll, H. Wichterle, R. H. Singer, and G. J. Bassell
Multiprotein Complexes of the Survival of Motor Neuron Protein SMN with Gemins Traffic to Neuronal Processes and Growth Cones of Motor Neurons.
J. Neurosci., August 15, 2006; 26(33): 8622 - 8632.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
C. J. Sumner, S. J. Kolb, G. G. Harmison, N. O. Jeffries, K. Schadt, R. S. Finkel, G. Dreyfuss, and K. H. Fischbeck
SMN mRNA and protein levels in peripheral blood: Biomarkers for SMA clinical trials
Neurology, April 11, 2006; 66(7): 1067 - 1073.
[Abstract] [Full Text] [PDF]

Home page
 Mol. Cell. Biol.Home page
N. K. Singh, N. N. Singh, E. J. Androphy, and R. N. Singh
Splicing of a Critical Exon of Human Survival Motor Neuron Is Regulated by a Unique Silencer Element Located in the Last Intron
Mol. Cell. Biol., February 15, 2006; 26(4): 1333 - 1346.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
S. Jablonka, K. Karle, B. Sandner, C. Andreassi, K. von Au, and M. Sendtner
Distinct and overlapping alterations in motor and sensory neurons in a mouse model of spinal muscular atrophy
Hum. Mol. Genet., February 1, 2006; 15(3): 511 - 518.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
F. Gabanella, C. Carissimi, A. Usiello, and L. Pellizzoni
The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation
Hum. Mol. Genet., December 1, 2005; 14(23): 3629 - 3642.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
A. Botta, A. Tacconelli, I. Bagni, E. Giardina, E. Bonifazi, A. Pietropolli, M. Clementi, and G. Novelli
Transmission ratio distortion in the spinal muscular atrophy locus: Data from 314 prenatal tests
Neurology, November 22, 2005; 65(10): 1631 - 1635.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
M. M. Scott, C. J. Wylie, J. K. Lerch, R. Murphy, K. Lobur, S. Herlitze, W. Jiang, R. A. Conlon, B. W. Strowbridge, and E. S. Deneris
A genetic approach to access serotonin neurons for in vivo and in vitro studies
PNAS, November 8, 2005; 102(45): 16472 - 16477.
[Abstract] [Full Text] [PDF]

Home page
 Genes Dev.Home page
C. Winkler, C. Eggert, D. Gradl, G. Meister, M. Giegerich, D. Wedlich, B. Laggerbauer, and U. Fischer
Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy
Genes & Dev., October 1, 2005; 19(19): 2320 - 2330.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
E. C. Wolstencroft, V. Mattis, A. A. Bajer, P. J. Young, and C. L. Lorson
A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels
Hum. Mol. Genet., May 1, 2005; 14(9): 1199 - 1210.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
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]

Home page
 J. Neurosci.Home page
M. M. Scott, K. C. Krueger, and E. S. Deneris
A Differentially Autoregulated Pet-1 Enhancer Region Is a Critical Target of the Transcriptional Cascade That Governs Serotonin Neuron Development
J. Neurosci., March 9, 2005; 25(10): 2628 - 2636.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
S. D. Buckingham, B. Esmaeili, M. Wood, and D. B. Sattelle
RNA interference: from model organisms towards therapy for neural and neuromuscular disorders
Hum. Mol. Genet., October 1, 2004; 13(suppl_2): R275 - R288.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
K. Grohmann, W. Rossoll, I. Kobsar, B. Holtmann, S. Jablonka, C. Wessig, G. Stoltenburg-Didinger, U. Fischer, C. Hubner, R. Martini, et al.
Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1)
Hum. Mol. Genet., September 15, 2004; 13(18): 2031 - 2042.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
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]

Home page
 JCBHome page
W. Rossoll, S. Jablonka, C. Andreassi, A.-K. Kroning, K. Karle, U. R. Monani, and M. Sendtner
Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of {beta}-actin mRNA in growth cones of motoneurons
J. Cell Biol., November 24, 2003; 163(4): 801 - 812.
[Abstract] [Full Text] [PDF]

Home page
 JCBHome page
M. L. McWhorter, U. R. Monani, A. H.M. Burghes, and C. E. Beattie
Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding
J. Cell Biol., September 1, 2003; 162(5): 919 - 932.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
S. T. Iannaccone and L. S. Hynan
Reliability of 4 Outcome Measures in Pediatric Spinal Muscular Atrophy
Arch Neurol, August 1, 2003; 60(8): 1130 - 1136.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
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]

Home page
 Genes Dev.Home page
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]

Home page
 JCBHome page
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]

Home page
 Hum Mol GenetHome page
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]

Home page
 Mol. Cell. Biol.Home page
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]

Home page
 Arch NeurolHome page
S. T. Iannaccone and and the American Spinal Muscular Atrophy Randomize
Outcome Measures for Pediatric Spinal Muscular Atrophy
Arch Neurol, September 1, 2002; 59(9): 1445 - 1450.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
S. Jablonka, B. Holtmann, G. Meister, M. Bandilla, W. Rossoll, U. Fischer, and M. Sendtner
Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death
PNAS, July 23, 2002; 99(15): 10126 - 10131.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
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]

Home page
 BrainHome page
C. Soler-Botija, I. Ferrer, I. Gich, M. Baiget, and F. Tizzano
Neuronal death is enhanced and begins during foetal development in type I spinal muscular atrophy spinal cord
Brain, July 1, 2002; 125(7): 1624 - 1634.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
C. Cifuentes-Diaz, S. Nicole, M. E. Velasco, C. Borra-Cebrian, C. Panozzo, T. Frugier, G. Millet, N. Roblot, V. Joshi, and J. Melki
Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model
Hum. Mol. Genet., June 1, 2002; 11(12): 1439 - 1447.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
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]

Home page
 J. Mol. Diagn.Home page
S. Ogino, D. G. B. Leonard, H. Rennert, and R. B. Wilson
Spinal Muscular Atrophy Genetic Testing Experience at an Academic Medical Center
J. Mol. Diagn., February 1, 2002; 4(1): 53 - 58.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
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]

Home page
 Hum Mol GenetHome page
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]

Home page
 Hum Mol GenetHome page
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]

Home page
 Genes Dev.Home page
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]

Home page
 Proc. Natl. Acad. Sci. USAHome page
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]

Home page
 J. Med. Genet.Home page
P. SAUGIER-VEBER, N. DROUOT, S. LEFEBVRE, F. CHARBONNIER, E. VIAL, A. MUNNICH, and T. FRÉBOURG
Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method
J. Med. Genet., April 1, 2001; 38(4): 240 - 243.
[Full Text]

Home page
 JCBHome page
C. Cifuentes-Diaz, T. Frugier, F. D. Tiziano, E. Lacene, N. Roblot, V. Joshi, M. H. Moreau, and J. Melki
Deletion of Murine SMN Exon 7 Directed to Skeletal Muscle Leads to Severe Muscular Dystrophy
J. Cell Biol., March 5, 2001; 152(5): 1107 - 1114.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
S. Jablonka, M. Bandilla, S. Wiese, D. Buhler, B. Wirth, M. Sendtner, and U. Fischer
Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy
Hum. Mol. Genet., March 1, 2001; 10(5): 497 - 505.
[Abstract] [Full Text] [PDF]

Home page
 JCBHome page
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]

Home page
 Hum Mol GenetHome page
P. J. Young, N. t. Man, C. L. Lorson, T. T. Le, E. J. Androphy, A. H.M. Burghes, and G. E. Morris
The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding
Hum. Mol. Genet., November 1, 2000; 9(19): 2869 - 2877.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
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]

Home page
 Hum Mol GenetHome page
G. Meister, D. Buhler, B. Laggerbauer, M. Zobawa, F. Lottspeich, and U. Fischer
Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins
Hum. Mol. Genet., August 12, 2000; 9(13): 1977 - 1986.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
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]

Home page
 J. Biol. Chem.Home page
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]

Home page
 J. Biol. Chem.Home page
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]

Home page
 J. Biol. Chem.Home page
N. Kurihara, C. Menaa, H. Maeda, D. J. Haile, and S. V. Reddy
Osteoclast-stimulating Factor Interacts with the Spinal Muscular Atrophy Gene Product to Stimulate Osteoclast Formation
J. Biol. Chem., October 26, 2001; 276(44): 41035 - 41039.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
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]

Home page
 Proc. Natl. Acad. Sci. USAHome page
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]

Home page
 Proc. Natl. Acad. Sci. USAHome page
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]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.