-
1
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-65
-
(1995)
Cell
, vol.80
, pp. 155-65
-
-
Lefebvre, S.1
Burglen, L.2
Reboullet, S.3
-
2
-
-
0029954338
-
A novel nuclear structure containing the survival of motor neurons protein
-
Liu Q, Dreyfuss G. A novel nuclear structure containing the survival of motor neurons protein. EMBO J 1996;15:3555-65 (Pubitemid 26239768)
-
(1996)
EMBO Journal
, vol.15
, Issue.14
, pp. 3555-3565
-
-
Liu, Q.1
Dreyfuss, G.2
-
3
-
-
0030931727
-
The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins
-
DOI 10.1016/S0092-8674(00)80367-0
-
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;90:1013-21 (Pubitemid 27408515)
-
(1997)
Cell
, vol.90
, Issue.6
, pp. 1013-1021
-
-
Liu, Q.1
Fischer, U.2
Wang, F.3
Dreyfuss, G.4
-
4
-
-
0030928716
-
The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis
-
DOI 10.1016/S0092-8674(00)80368-2
-
Fischer U, Liu Q, Dreyfuss G. The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. Cell 1997;90:1023-9 (Pubitemid 27408516)
-
(1997)
Cell
, vol.90
, Issue.6
, pp. 1023-1029
-
-
Fischer, U.1
Liu, Q.2
Dreyfuss, G.3
-
5
-
-
0030981541
-
Correlation between severity and SMN protein level in spinal muscular atrophy
-
DOI 10.1038/ng0797-265
-
Lefebvre S, Burlet P, Liu Q, et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet 1997;16:265-9 (Pubitemid 27280210)
-
(1997)
Nature Genetics
, vol.16
, Issue.3
, pp. 265-269
-
-
Lefebvre, S.1
Burlet, P.2
Liu, Q.3
Bertrandy, S.4
Clermont, O.5
Munnich, A.6
Dreyfuss, G.7
Melki, J.8
-
6
-
-
0030863569
-
When is a deletion not a deletion? When it is converted
-
Burghess AHM. When is a deletion not a deletion? When it is converted. Am J Hum Genet 2007;61:9-15
-
(2007)
Am J Hum Genet
, vol.61
, pp. 9-15
-
-
Burghess, A.H.M.1
-
7
-
-
0036368287
-
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
-
DOI 10.1097/00125817-200201000-00004
-
Mailman MD, Heinz JW, Papp AC, et al. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med 2002;4:20-6 (Pubitemid 44698460)
-
(2002)
Genetics in Medicine
, vol.4
, Issue.1
, pp. 20-26
-
-
Mailman, M.D.1
Heinz, J.W.2
Papp, A.C.3
Snyder, P.J.4
Sedra, M.S.5
Wirth, B.6
Burghes, A.H.M.7
Prior, T.W.8
-
8
-
-
18244407748
-
Natural history of denervation in SMA: Relation to age, SMN2 copy number, and function
-
DOI 10.1002/ana.20473
-
Swoboda KJ, Prior TW, Scott CB, et al. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann Neurol 2005;57:704-12 (Pubitemid 40628859)
-
(2005)
Annals of Neurology
, vol.57
, Issue.5
, pp. 704-712
-
-
Swoboda, K.J.1
Prior, T.W.2
Scott, C.B.3
McNaught, T.P.4
Wride, M.C.5
Reyna, S.P.6
Bromberg, M.B.7
-
9
-
-
0033033434
-
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
-
DOI 10.1073/pnas.96.11.6307
-
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 USA 1999;96:6307-11 (Pubitemid 29256661)
-
(1999)
Proceedings of the National Academy of Sciences of the United States of America
, vol.96
, Issue.11
, pp. 6307-6311
-
-
Lorson, C.L.1
Hahnen, E.2
Androphy, E.J.3
Wirth, B.4
-
10
-
-
0033983258
-
An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
-
Lorson CL, Androphy EJ. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN. Hum Mol Genet 2000;9:259-65
-
(2000)
Hum Mol Genet
, vol.9
, pp. 259-65
-
-
Lorson, C.L.1
Androphy, E.J.2
-
11
-
-
77649114471
-
A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity
-
Cho S, Dreyfuss G. A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity. Genes Dev 2010;24:438-42
-
(2010)
Genes Dev
, vol.24
, pp. 438-42
-
-
Cho, S.1
Dreyfuss, G.2
-
13
-
-
79960550749
-
-
China Medical College Hospital. US6573300 2003
-
China Medical College Hospital. US6573300 2003
-
-
-
-
14
-
-
23244458683
-
Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells
-
DOI 10.1002/ana.20548
-
Grzeschik SM, Ganta M, Prior TW, et al. Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells. Ann Neurol 2005;58:194-202 (Pubitemid 41098877)
-
(2005)
Annals of Neurology
, vol.58
, Issue.2
, pp. 194-202
-
-
Grzeschik, S.M.1
Ganta, M.2
Prior, T.W.3
Heavlin, W.D.4
Wang, C.H.5
-
15
-
-
0141506887
-
Valproic acid increases the SMN2 protein level: A well-known drug as a potential therapy for spinal muscular atrophy
-
DOI 10.1093/hmg/ddg256
-
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;12:2481-9 (Pubitemid 37220412)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.19
, pp. 2481-2489
-
-
Brichta, L.1
Hofmann, Y.2
Hahnen, E.3
Siebzehnrubi, F.A.4
Raschke, H.5
Blumcke, I.6
Eyupoglu, I.Y.7
Wirth, B.8
-
16
-
-
10744229981
-
Phenylbutyrate increases SMN expression in vitro: Relevance for treatment of spinal muscular atrophy
-
DOI 10.1038/sj.ejhg.5201102
-
Andreassi C, Angelozzi C, Tiziano FD, et al. Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. Eur J Hum Genet 2004;12:59-65 (Pubitemid 38180971)
-
(2004)
European Journal of Human Genetics
, vol.12
, Issue.1
, pp. 59-65
-
-
Andreassi, C.1
Angelozzi, C.2
Tiziano, F.D.3
Vitali, T.4
De Vincenzi, E.5
Boninsegna, A.6
Villanova, M.7
Bertini, E.8
Pini, A.9
Neri, G.10
Brahe, C.11
-
17
-
-
13544258982
-
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients
-
DOI 10.1038/sj.ejhg.5201320
-
Brahe C, Vitali T, Tiziano FD, et al. Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients. Eur J Hum Genet 2005;13:256-9 (Pubitemid 40220572)
-
(2005)
European Journal of Human Genetics
, vol.13
, Issue.2
, pp. 256-259
-
-
Brahe, C.1
Vitali, T.2
Tiziano, F.D.3
Angelozzi, C.4
Pinto, A.M.5
Borgo, F.6
Moscato, U.7
Bertini, E.8
Mercuri, E.9
Neri, G.10
-
18
-
-
0034662922
-
Htra2-β1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)
-
Hofmann Y, Lorson CL, Stamm S, et al. Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2). Proc Natl Acad Sci USA 2000;97:9618-23 (Pubitemid 30650825)
-
(2000)
Proceedings of the National Academy of Sciences of the United States of America
, vol.97
, Issue.17
, pp. 9618-9623
-
-
Hofmann, Y.1
Lorson, C.L.2
Stamm, S.3
Androphy, E.J.4
Wirth, B.5
-
19
-
-
77953519937
-
Deficiency of the splicing factor Sfsr10 results in early embryonic in mice and has no impact on full-length SMN/Smn splicing
-
Mende Y, Jakubik M, Reissland M, et al. Deficiency of the splicing factor Sfsr10 results in early embryonic in mice and has no impact on full-length SMN/Smn splicing. Hum Mol Gen 2010;19:2154-67
-
(2010)
Hum Mol Gen
, vol.19
, pp. 2154-67
-
-
Mende, Y.1
Jakubik, M.2
Reissland, M.3
-
20
-
-
37549002103
-
Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing
-
Novoyateleva T, Heinrich B, Tang Y, Benderska N. Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing. Hum Mol Genet 2008;17:52-70
-
(2008)
Hum Mol Genet
, vol.17
, pp. 52-70
-
-
Novoyateleva, T.1
Heinrich, B.2
Tang, Y.3
Benderska, N.4
-
21
-
-
62549087007
-
Differential 3 splice site recognition of SMN1 and SMN2 transcripts by U2AF and U2 snRNP
-
Martins de Araujo M, Bonnal S, Hastings ML, et al. Differential 3 splice site recognition of SMN1 and SMN2 transcripts by U2AF and U2 snRNP. RNA 2009;15:515-23
-
(2009)
RNA
, vol.15
, pp. 515-23
-
-
Martins De Araujo, M.1
Bonnal, S.2
Hastings, M.L.3
-
22
-
-
78649461312
-
A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2
-
Jodelka FM, Ebert AD, Duelli DM, Hastings ML. A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2. Hum Mol Genet 2010;19:4906-17
-
(2010)
Hum Mol Genet
, vol.19
, pp. 4906-17
-
-
Jodelka, F.M.1
Ebert, A.D.2
Duelli, D.M.3
Hastings, M.L.4
-
23
-
-
77953893282
-
Spinal muscular atrophy: Mechanisms and therapeutic strategies
-
Lorson CL, Rindt H, Shababi M. Spinal muscular atrophy: mechanisms and therapeutic strategies. Hum Mol Genet 2010;19:R111-18
-
(2010)
Hum Mol Genet
, vol.19
-
-
Lorson, C.L.1
Rindt, H.2
Shababi, M.3
-
24
-
-
0035891862
-
Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients
-
Andreassi C, Jarecki J, Zhou J, et al. Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients. Hum Mol Genet 2001;10:2841-9 (Pubitemid 34026465)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.24
, pp. 2841-2849
-
-
Andreassi, C.1
Jarecki, J.2
Zhou, J.3
Coovert, D.D.4
Monani, U.R.5
Chen, X.6
Whitney, M.7
Pollok, B.8
Zhang, M.9
Androphy, E.10
Burghes, A.H.M.11
-
25
-
-
77749301118
-
Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy
-
Hastings ML, Berniac J, Liu YH, et al. Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy. Sci Transl Med 2009;1:5ra12
-
(2009)
Sci Transl Med
, vol.1
-
-
Hastings, M.L.1
Berniac, J.2
Liu, Y.H.3
-
26
-
-
32044445564
-
Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron
-
DOI 10.1128/MCB.26.4.1333-1346.2006
-
Singh NK, Singh NN, Androphy EJ, Singh RN. 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 2006;26:1333-46 (Pubitemid 43202560)
-
(2006)
Molecular and Cellular Biology
, vol.26
, Issue.4
, pp. 1333-1346
-
-
Singh, N.K.1
Singh, N.N.2
Androphy, E.J.3
Singh, R.N.4
-
27
-
-
67449135902
-
Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy
-
Williams JH, Schray RC, Patterson CA, et al. Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy. J Neurosci 2009;29:7633-8
-
(2009)
J Neurosci
, vol.29
, pp. 7633-8
-
-
Williams, J.H.1
Schray, R.C.2
Patterson, C.A.3
-
28
-
-
77955894067
-
Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model
-
Hua Y, Sahashi K, Hung G, et al. Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model. Genes Dev 2010;24:1634-44
-
(2010)
Genes Dev
, vol.24
, pp. 1634-44
-
-
Hua, Y.1
Sahashi, K.2
Hung, G.3
-
29
-
-
79960504057
-
-
Available from http://www.prosensa.eu/technology-and-products/pre- clinicalportfolio
-
-
-
-
30
-
-
79960497319
-
-
ISIS-SMNRx
-
Available from http://www.isispharm.com/Pipeline/Therapeutic-Areas/ Neurodegenerative-Disease.htm# ISIS-SMNRx
-
-
-
-
31
-
-
26444523139
-
Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: Early leads towards a therapeutic for spinal muscular atrophy
-
DOI 10.1093/hmg/ddi205
-
Jarecki J, Chen X, Bernardino A, et al. Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy. Hum Mol Genet 2005;14:2003-18 (Pubitemid 41418036)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.14
, pp. 2003-2018
-
-
Jarecki, J.1
Chen, X.2
Bernardino, A.3
Coovert, D.D.4
Whitney, M.5
Burghes, A.6
Stack, J.7
Pollok, B.A.8
-
32
-
-
77956578919
-
Drug discovery and development for spinal muscular atrophy: Lessons from screening approaches and future challenes for clinical development
-
Pruss RM, Giraudon-Paoli M, Morozova S, et al. Drug discovery and development for spinal muscular atrophy: lessons from screening approaches and future challenes for clinical development Future Med Chem 2010;2:1429-40
-
(2010)
Future Med Chem
, vol.2
, pp. 1429-1440
-
-
Pruss, R.M.1
Giraudon-Paoli, M.2
Morozova, S.3
-
33
-
-
79960534673
-
-
Vertex Pharmaceuticals, Inc. US7465738; 2008
-
Vertex Pharmaceuticals, Inc. US7465738; 2008
-
-
-
-
34
-
-
79960545937
-
-
Vertex Pharmaceuticals, Inc. WO2004/112205A2
-
Vertex Pharmaceuticals, Inc. WO2004/112205A2
-
-
-
-
35
-
-
39149084412
-
Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy
-
DOI 10.1021/jm061475p
-
Thurmond J, Butchbach MER, Palomo M, et al. Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy. J Med Chem 2008;51:449-69 (Pubitemid 351252274)
-
(2008)
Journal of Medicinal Chemistry
, vol.51
, Issue.3
, pp. 449-469
-
-
Thurmond, J.1
Butchbach, M.E.R.2
Palomo, M.3
Pease, B.4
Rao, M.5
Bedell, L.6
Keyvan, M.7
Pai, G.8
Mishra, R.9
Haraldsson, M.10
Andresson, T.11
Bragason, G.12
Thosteinsdottir, M.13
Bjornsson, J.M.14
Coovert, D.D.15
Burghes, A.H.M.16
Gurney, M.E.17
Singh, J.18
-
36
-
-
77949889553
-
Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy
-
Butchbach ME, Singh J, Thorsteinsdottir M, et al. Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy. Hum Mol Genet 2010;19:454-67
-
(2010)
Hum Mol Genet
, vol.19
, pp. 454-67
-
-
Butchbach, M.E.1
Singh, J.2
Thorsteinsdottir, M.3
-
37
-
-
58149146970
-
DcpS as a therapeutic target for spinal muscular atrophy
-
Singh J, Salcius M, Liu SW, et al. DcpS as a therapeutic target for spinal muscular atrophy. ACS Chem Biol 2008;3:711-22 http://www.repligen.com/ products/pipeline/rgsma
-
(2008)
ACS Chem Biol
, vol.3
, pp. 711-22
-
-
Singh, J.1
Salcius, M.2
Liu, S.W.3
-
39
-
-
18144431041
-
A non-sequence-apecific requirement for SMN protein activity: The role of aminoglycosides in inducing elevated SMN protein levels
-
DOI 10.1093/hmg/ddi131
-
Wolstencroft EC, Mattis V, Bajer AA, et al. A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels. Hum Mol Genet 2005;14:1199-210 (Pubitemid 40613908)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.9
, pp. 1199-1210
-
-
Wolstencroft, E.C.1
Mattis, V.2
Bajer, A.A.3
Young, P.J.4
Lorson, C.L.5
-
40
-
-
63149153320
-
Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo
-
Heier CR, DiDonato CJ. Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo. Hum Mol Genet 2009;18:1310-22
-
(2009)
Hum Mol Genet
, vol.18
, pp. 1310-1322
-
-
Heier, C.R.1
Didonato, C.J.2
-
41
-
-
0141661741
-
Pyranmycins, a novel class of aminoglycosides with improved acid stability: The SAR of D-pyranoses on ring III of pyranmycin
-
Chang CW, Hui Y, Elchert B, et al. Pyranmycins, a novel class of aminoglycosides with improved acid stability: the SAR of D-pyranoses on ring III of pyranmycin. Org Lett 2002;4:4603-6
-
(2002)
Org Lett
, vol.4
, pp. 4603-6
-
-
Chang, C.W.1
Hui, Y.2
Elchert, B.3
-
42
-
-
70349575755
-
Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model
-
Mattis VB, Ebert AD, Fosso MY, et al. Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model. Hum Mol Genet 2009;18:3906-13
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3906-13
-
-
Mattis, V.B.1
Ebert, A.D.2
Fosso, M.Y.3
-
43
-
-
8844240017
-
Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism
-
DOI 10.1016/j.chembiol.2004.08.024, PII S1074552104002819
-
Lunn MR, Root DE, Martino AM, et al. Indoprofen upregulated the survival motor neuron protein through a cyclooxygenase-independent mechanism. Chem Biol 2004;11:1489-93 (Pubitemid 39527275)
-
(2004)
Chemistry and Biology
, vol.11
, Issue.11
, pp. 1489-1493
-
-
Lunn, M.R.1
Root, D.E.2
Martino, A.M.3
Flaherty, S.P.4
Kelley, B.P.5
Coovert, D.D.6
Burghes, A.H.7
Thi Man, N.8
Morris, G.E.9
Zhou, J.10
Androphy, E.J.11
Sumner, C.J.12
Stockwell, B.R.13
-
45
-
-
79960525584
-
-
The trustees of the University of Pennsylvania US2006/0223092A1
-
The trustees of the University of Pennsylvania US2006/0223092A1
-
-
-
-
46
-
-
47349113209
-
Inactivation of the SMN complex by oxidative stress
-
DOI 10.1016/j.molcel.2008.06.004, PII S1097276508003936
-
Wan L, Ottinger E, Cho S, Dreyfuss G. Inactivation of the SMN complex by oxidative stress. Mol Cell 2008;31:244-54 (Pubitemid 352001393)
-
(2008)
Molecular Cell
, vol.31
, Issue.2
, pp. 244-254
-
-
Wan, L.1
Ottinger, E.2
Cho, S.3
Dreyfuss, G.4
-
47
-
-
79960532160
-
-
Dreyfuss G, Wan L US2010/0234402A1
-
Dreyfuss G, Wan L US2010/0234402A1
-
-
-
-
48
-
-
0042202619
-
Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization
-
Zhang HL, Pan F, Hong D, et al. Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization. J Neurosci 2003;23:6627-37 (Pubitemid 36909889)
-
(2003)
Journal of Neuroscience
, vol.23
, Issue.16
, pp. 6627-6637
-
-
Zhang, H.L.1
Pan, F.2
Hong, D.3
Shenoy, S.M.4
Singer, R.H.5
Bassell, G.J.6
-
49
-
-
0345599021
-
Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of β-actin mRNA in growth cones of motoneurons
-
DOI 10.1083/jcb.200304128
-
Rossoll W, Jablonka S, Andreassi C, et al. 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 2003;163:801-12 (Pubitemid 37517887)
-
(2003)
Journal of Cell Biology
, vol.163
, Issue.4
, pp. 801-812
-
-
Rossoll, W.1
Jablonka, S.2
Andreassi, C.3
Kroning, A.-K.4
Karle, K.5
Monani, U.R.6
Sendtner, M.7
-
50
-
-
70249095607
-
Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes
-
Rossoll W, Bassell GJ. Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes. Results Probl Cell Differ 2009;48:289-326
-
(2009)
Results Probl Cell Differ
, vol.48
, pp. 289-326
-
-
Rossoll, W.1
Bassell, G.J.2
-
51
-
-
79952390939
-
The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly (A) mRNA in primary motor neuron axons
-
Fallini C, Zhang H, Su Y, et al. The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly (A) mRNA in primary motor neuron axons. J Neurosci 2011;31:3914-25
-
(2011)
J Neurosci
, vol.31
, pp. 3914-25
-
-
Fallini, C.1
Zhang, H.2
Su, Y.3
-
52
-
-
0028785098
-
Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: Evidence of homozygous deletions of the SMN gene in unaffected individuals
-
Hahnen E, Forkert R, Marke C, et al. Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum Mol Genet 1995;4:1927-33
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1927-33
-
-
Hahnen, E.1
Forkert, R.2
Marke, C.3
-
53
-
-
42549088649
-
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy
-
DOI 10.1126/science.1155085
-
Oprea GE, Krober S, McWhorter ML, et al. Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science 2008;320:524-7 (Pubitemid 351590664)
-
(2008)
Science
, vol.320
, Issue.5875
, pp. 524-527
-
-
Oprea, G.E.1
Krober, S.2
McWhorter, M.L.3
Rossoll, W.4
Muller, S.5
Krawczak, M.6
Bassell, G.J.7
Beattie, C.E.8
Wirth, B.9
-
54
-
-
77952318830
-
Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model
-
Bowerman M, Beauvais A, Anderson CL, Kothary R. Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model. Hum Mol Genet 2010;19:1468-78
-
(2010)
Hum Mol Genet
, vol.19
, pp. 1468-78
-
-
Bowerman, M.1
Beauvais, A.2
Anderson, C.L.3
Kothary, R.4
-
55
-
-
77952538901
-
Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy
-
Wen HL, Lin YT, Ting CH, et al. Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy. Hum Mol Genet 2010;19:1766-78
-
(2010)
Hum Mol Genet
, vol.19
, pp. 1766-78
-
-
Wen, H.L.1
Lin, Y.T.2
Ting, C.H.3
-
56
-
-
58249110796
-
Induced pluripotent stem cells from a spinal muscular atrophy patient
-
Ebert AD, Yu J, Rose FF, et al. Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature 2009;457:277-80
-
(2009)
Nature
, vol.457
, pp. 277-80
-
-
Ebert, A.D.1
Yu, J.2
Rose, F.F.3
-
57
-
-
0036357241
-
Elucidating the molecular mechanisms that underlie the target control of motoneuron death
-
Banks G, Noakes PG. Elucidating the molecular mechanisms that underlie the target control of motoneuron death. Int J Dev Biol 2002;46:551-8 (Pubitemid 36841024)
-
(2002)
International Journal of Developmental Biology
, vol.46
, Issue.4 SPEC.
, pp. 551-558
-
-
Banks, G.B.1
Noakes, P.G.2
-
58
-
-
20144385587
-
SMNδ7, 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
-
DOI 10.1093/hmg/ddi078
-
Le TT, Pham LT, Butchbach MER, et al. SMNDelta7, 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;14:845-57 (Pubitemid 40403280)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.6
, pp. 845-857
-
-
Le, T.T.1
Pham, L.T.2
Butchbach, M.E.R.3
Zhang, H.L.4
Monani, U.R.5
Coovert, D.D.6
Gavrilina, T.O.7
Xing, L.8
Bassell, G.J.9
Burghes, A.H.M.10
-
59
-
-
48249145306
-
Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy
-
Kariya S, Park GH, Maeno-Hikichi Y, et al. Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy. Hum Mol Genet 2008;17:2552-69
-
(2008)
Hum Mol Genet
, vol.17
, pp. 2552-69
-
-
Kariya, S.1
Park, G.H.2
Maeno-Hikichi, Y.3
-
60
-
-
41149113045
-
Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy
-
DOI 10.1093/hmg/ddm367
-
Murray LM, Comley LH, Thomson D, et al. 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 2008;17:949-62 (Pubitemid 351426029)
-
(2008)
Human Molecular Genetics
, vol.17
, Issue.7
, pp. 949-962
-
-
Murray, L.M.1
Comley, L.H.2
Thomson, D.3
Parkinson, N.4
Talbot, K.5
Gillingwater, T.H.6
-
61
-
-
58849103600
-
Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice
-
Kong L, Wang X, Choe DW, et al. Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice. J Neurosci 2009;29:842-51
-
(2009)
J Neurosci
, vol.29
, pp. 842-51
-
-
Kong, L.1
Wang, X.2
Choe, D.W.3
-
62
-
-
77749249680
-
Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
-
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;28:271-4
-
(2010)
Nat Biotechnol
, vol.28
, pp. 271-4
-
-
Foust, K.D.1
Wang, X.2
McGovern, V.L.3
-
63
-
-
77649186396
-
Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy
-
Michaud M, Arnoux T, Bielli S, et al. Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy. Neurobiol Dis 2010;38:125-35
-
(2010)
Neurobiol Dis
, vol.38
, pp. 125-35
-
-
Michaud, M.1
Arnoux, T.2
Bielli, S.3
-
64
-
-
77956603926
-
Reduced suvival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene
-
Park G-H, Maeno-Hikichi Y, Awano T, et al. Reduced suvival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene. J Neurosci 2010;30:12005-19
-
(2010)
J Neurosci
, vol.30
, pp. 12005-19
-
-
Park, G.-H.1
Maeno-Hikichi, Y.2
Awano, T.3
-
65
-
-
54049121013
-
Congenital heart disease is a feature of severe infantile spinal muscular atrophy
-
Rudnik-Schoneborn S, Heller R, Berg C, et al. Congenital heart disease is a feature of severe infantile spinal muscular atrophy. J Med Genet 2008;45:635-8
-
(2008)
J Med Genet
, vol.45
, pp. 635-8
-
-
Rudnik-Schoneborn, S.1
Heller, R.2
Berg, C.3
-
66
-
-
77957729453
-
Cardiac defects contribute to the pathology of spinal muscular atrophy models
-
Shababi M, Habibi J, Yang HT, et al. Cardiac defects contribute to the pathology of spinal muscular atrophy models. Hum Mol Genet 2010;19:4059-71
-
(2010)
Hum Mol Genet
, vol.19
, pp. 4059-71
-
-
Shababi, M.1
Habibi, J.2
Yang, H.T.3
-
67
-
-
65649121522
-
Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy
-
Millino C, Fanin M, Vettori A, et al. Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy BMC Medicine 2009;7:14-22
-
(2009)
BMC Medicine
, vol.7
, pp. 14-22
-
-
Millino, C.1
Fanin, M.2
Vettori, A.3
-
68
-
-
49349107825
-
Restoring Bcl-x (L) levels benefits a mouse model of spinal muscular atrophy
-
Tsai LK, Tsai MS, Ting CH, et al. Restoring Bcl-x(L) levels benefits a mouse model of spinal muscular atrophy. Neurobiol Dis 2008;31:361-7
-
(2008)
Neurobiol Dis
, vol.31
, pp. 361-7
-
-
Tsai, L.K.1
Tsai, M.S.2
Ting, C.H.3
-
69
-
-
77951201412
-
CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy
-
Passini MA, Bu J, Roskelley EM, et al. CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy. J Clin Invest 2010;120:1253-64
-
(2010)
J Clin Invest
, vol.120
, pp. 1253-64
-
-
Passini, M.A.1
Bu, J.2
Roskelley, E.M.3
-
70
-
-
77955602597
-
Systemic delivery of scAAV9 expressing SMN prolongs survival in a model of spinal muscular atrophy
-
Valori CF, Ning K, Wyles M, et al. Systemic delivery of scAAV9 expressing SMN prolongs survival in a model of spinal muscular atrophy. Sci Transl Med 2010;2:35ra42
-
(2010)
Sci Transl Med
, vol.2
, pp. 35-42
-
-
Valori, C.F.1
Ning, K.2
Wyles, M.3
-
71
-
-
49449101788
-
Identification and characterization of the porcine (Sus scrofa) survival motor neuron (SMN1) gene: An animal model for therapeutic studies
-
Lorson MA, Spate LD, Prather RS, Lorson CL. Identification and characterization of the porcine (Sus scrofa) survival motor neuron (SMN1) gene: an animal model for therapeutic studies. Dev Dyn 2008;237:2268-78
-
(2008)
Dev Dyn
, vol.237
, pp. 2268-78
-
-
Lorson, M.A.1
Spate, L.D.2
Prather, R.S.3
Lorson, C.L.4
-
72
-
-
80855144747
-
Disruption of the Survival Motor Neuron (SMN) gene in pigs using ssDNA
-
[Epub ahead of print]
-
Lorson MA, Spate LD, Samuel MS, et al. Disruption of the Survival Motor Neuron (SMN) gene in pigs using ssDNA. Transgenic Res 2011. [Epub ahead of print]
-
(2011)
Transgenic Res
-
-
Lorson, M.A.1
Spate, L.D.2
Samuel, M.S.3
-
73
-
-
79951826869
-
Combination of SMN trans-splicing and a neurotrophic factor increases the life span and body mass in a severe model of spinal muscular atrophy
-
Shababi M, Glascock J, Lorson CL. Combination of SMN trans-splicing and a neurotrophic factor increases the life span and body mass in a severe model of spinal muscular atrophy. Hum Gene Ther 2011;22:135-44
-
(2011)
Hum Gene Ther
, vol.22
, pp. 135-44
-
-
Shababi, M.1
Glascock, J.2
Lorson, C.L.3
-
74
-
-
34547123812
-
Identification and characterization of cholest-4-en-3-one, oxime (TRO19622), a novel drug candidate for amyotrophic lateral sclerosis
-
DOI 10.1124/jpet.107.123000
-
Bordet T, Buisson B, Michaud M, et al. Identification and characterization of cholest-4-en-3-one, oxime (TRO19622), a novel drug candidate for amyotrophic lateral sclerosis. J Pharmacol Exp Ther 2007;322:709-20 (Pubitemid 47105813)
-
(2007)
Journal of Pharmacology and Experimental Therapeutics
, vol.322
, Issue.2
, pp. 709-720
-
-
Bordet, T.1
Buisson, B.2
Michaud, M.3
Drouot, C.4
Galea, P.5
Delaage, P.6
Akentieva, N.P.7
Evers, A.S.8
Covey, D.F.9
Ostuni, M.A.10
Lacapere, J.-J.11
Massaad, C.12
Schumacher, M.13
Steidl, E.-M.14
Maux, D.15
Delaage, M.16
Henderson, C.E.17
Pruss, R.M.18
-
75
-
-
77952120023
-
Olesoxime (TRO19622): A novel mitochondrial-targeted neuroprotective compound
-
Bordet T, Berna P, Abitbol JL, Pruss RM Olesoxime (TRO19622): A novel mitochondrial-targeted neuroprotective compound. Pharmaceuticals 2010;3:345-68
-
(2010)
Pharmaceuticals
, vol.3
, pp. 345-68
-
-
Bordet, T.1
Berna, P.2
Abitbol, J.L.3
Pruss, R.M.4
-
76
-
-
78650916379
-
The mitochondrial permeability transition pore regulates nitric oxide-mediated apoptosis of neurons induced by target deprivation
-
Martin LJ, Adams NA, Pan Y, et al. The mitochondrial permeability transition pore regulates nitric oxide-mediated apoptosis of neurons induced by target deprivation. J Neurosci 2011;31:359-70
-
(2011)
J Neurosci
, vol.31
, pp. 359-70
-
-
Martin, L.J.1
Adams, N.A.2
Pan, Y.3
-
77
-
-
77954762893
-
Olesoxime prevents microtubule-targeting drug neurotoxicity: Selective preservation of EB comets in differentiated neuronal cells
-
Rovini A, Carre M, Bordet T, et al. Olesoxime prevents microtubule-targeting drug neurotoxicity: selective preservation of EB comets in differentiated neuronal cells. Biochem Pharmacol 2010;80:884-94
-
(2010)
Biochem Pharmacol
, vol.80
, pp. 884-94
-
-
Rovini, A.1
Carre, M.2
Bordet, T.3
-
78
-
-
33846114574
-
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy
-
DOI 10.1212/01.wnl.0000249142.82285.d6, PII 0000611420070102000015
-
Mercuri E, Bertini E, Messina S, et al. Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. Neurology 2007;68:51-5 (Pubitemid 46058552)
-
(2007)
Neurology
, vol.68
, Issue.1
, pp. 51-55
-
-
Mercuri, E.1
Bertini, E.2
Messina, S.3
Solari, A.4
D'Amico, A.5
Angelozzi, C.6
Battini, R.7
Berardinelli, A.8
Boffi, P.9
Bruno, C.10
Cini, C.11
Colitto, F.12
Kinali, M.13
Minetti, C.14
Mongini, T.15
Morandi, L.16
Neri, G.17
Orcesi, S.18
Pane, M.19
Pelliccioni, M.20
Pini, A.21
Tiziano, F.D.22
Villanova, M.23
Vita, G.24
Brahe, C.25
more..
-
79
-
-
65849222556
-
Phase II open label study of valproic acid in spinal muscular atrophy
-
Swoboda KJ, Scott CB, Reyna SP, et al. Phase II open label study of valproic acid in spinal muscular atrophy. PLoS One 2009;4:e5268
-
(2009)
PLoS One
, vol.4
-
-
Swoboda, K.J.1
Scott, C.B.2
Reyna, S.P.3
-
80
-
-
77954103716
-
Compound muscle action potential and motor function in children with spinal muscular atrophy
-
Lewelt A, Krosschell KJ, Scott C, et al. Compound muscle action potential and motor function in children with spinal muscular atrophy. Muscle Nerve 2010;42:703-8
-
(2010)
Muscle Nerve
, vol.42
, pp. 703-8
-
-
Lewelt, A.1
Krosschell, K.J.2
Scott, C.3
-
82
-
-
0035158371
-
An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: Potential therapy of SMA
-
DOI 10.1038/sj.gt.3301550
-
Zhang ML, Lorson CL, Androphy EJ, Zhou J. An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA. Gene Ther 2001;8:1532-8 (Pubitemid 33061891)
-
(2001)
Gene Therapy
, vol.8
, Issue.20
, pp. 1532-1538
-
-
Zhang, M.L.1
Lorson, C.L.2
Androphy, E.J.3
Zhou, J.4
-
83
-
-
33745079980
-
In vitro and ex vivo evaluation of second-generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy
-
DOI 10.1111/j.1471-4159.2006.03868.x
-
Hahnen E, Eyüpoglu IY, Brichta L, et al. In vitro and ex vivo evaluation of second-generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy. J Neurochem 2006;98:193-202 (Pubitemid 43882944)
-
(2006)
Journal of Neurochemistry
, vol.98
, Issue.1
, pp. 193-202
-
-
Hahnen, E.1
Eyupoglu, I.Y.2
Brichta, L.3
Haastert, K.4
Trankle, C.5
Siebzehnrubl, F.A.6
Riessland, M.7
Holker, I.8
Claus, P.9
Romstock, J.10
Buslei, R.11
Wirth, B.12
Blumcke, I.13
-
84
-
-
77952295831
-
SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy
-
Riessland M, Ackermann B, Forster A, et al. SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy. Hum. Mol. Genet 2010;19:1492-1506
-
(2010)
Hum. Mol. Genet
, vol.19
, pp. 1492-1506
-
-
Riessland, M.1
Ackermann, B.2
Forster, A.3
-
85
-
-
33847358736
-
Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy
-
DOI 10.1172/JCI29562
-
Avila AM, Burnett BG, Taye AA, et al. Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J Clin Invest 2007;117:659-71 (Pubitemid 46348524)
-
(2007)
Journal of Clinical Investigation
, vol.117
, Issue.3
, pp. 659-671
-
-
Avila, A.M.1
Burnett, B.G.2
Taye, A.A.3
Gabanella, F.4
Knight, M.A.5
Hartenstein, P.6
Cizman, Z.7
Di Prospero, N.A.8
Pellizzoni, L.9
Fischbeck, K.H.10
Sumner, C.J.11
-
86
-
-
33745686137
-
The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells
-
Riessland M, Brichta L, Hahnen E, Wirth B. The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells. Hum Genet 2006;120:101-10
-
(2006)
Hum Genet
, vol.120
, pp. 101-10
-
-
Riessland, M.1
Brichta, L.2
Hahnen, E.3
Wirth, B.4
-
87
-
-
58049206781
-
Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition
-
Hauke J, Riessland M, Lunde S, et al. Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition. Hum Mol Genet 2009;18:304-17
-
(2009)
Hum Mol Genet
, vol.18
, pp. 304-17
-
-
Hauke, J.1
Riessland, M.2
Lunde, S.3
-
88
-
-
70350749543
-
LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate
-
Garbes L, Riessland M, Holker I, et al. LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate. Hum Mol Genet 2009;18:3645-58
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3645-58
-
-
Garbes, L.1
Riessland, M.2
Holker, I.3
-
89
-
-
78649636116
-
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: Relevance for clinical trial design
-
Tiziano FC, Lomastro R, Pinto AM, et al. Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. J Med Genet 2010;47:856-8
-
(2010)
J Med Genet
, vol.47
, pp. 856-8
-
-
Tiziano, F.C.1
Lomastro, R.2
Pinto, A.M.3
-
90
-
-
33750570039
-
Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts
-
DOI 10.1007/s00439-006-0245-7
-
Mattis VB, Rai R, Wang J, et al. Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts. Hum Genet 2006;120:589-601 (Pubitemid 44669792)
-
(2006)
Human Genetics
, vol.120
, Issue.4
, pp. 589-601
-
-
Mattis, V.B.1
Rai, R.2
Wang, J.3
Chang, C.-W.T.4
Coady, T.5
Lorson, C.L.6
-
91
-
-
79960540133
-
-
Whitehead Institute for Biomedical Research, Trustees of Columbia University in the City of New York WO2006/050451
-
Whitehead Institute for Biomedical Research, Trustees of Columbia University in the City of New York WO2006/050451
-
-
-
-
92
-
-
79960481289
-
-
Root DE WO2009/0031435
-
Stockwell BR, Root DE WO2009/0031435
-
-
-
Stockwell, B.R.1
-
93
-
-
79960551875
-
-
US Department of Health and Human Services, Albany Molecular Research, Saic US2009/0312323A1
-
US Department of Health and Human Services, Albany Molecular Research, Saic US2009/0312323A1
-
-
-
-
94
-
-
79960476901
-
-
US Department of Health and Human Services, Saic, Albany Molecular Research US2010/0267712A1
-
US Department of Health and Human Services, Saic, Albany Molecular Research US2010/0267712A1
-
-
-
-
95
-
-
37749054939
-
Induction of full-length survival motor neuron by polyphenol botanical compounds
-
Sakla MS, Lorson CL. Induction of full-length survival motor neuron by polyphenol botanical compounds. Hum Genet 2008;122:635-43
-
(2008)
Hum Genet
, vol.122
, pp. 635-43
-
-
Sakla, M.S.1
Lorson, C.L.2
|