-
1
-
-
80051554264
-
Spinal muscular atrophy: A timely review
-
PMID: 21482919
-
Kolb SJ, Kissel JT. Spinal muscular atrophy: a timely review. Arch Neurol. 2011; 68: 979-984. doi: 10.1001/archneurol.2011.74 PMID: 21482919
-
(2011)
Arch Neurol
, vol.68
, pp. 979-984
-
-
Kolb, S.J.1
Kissel, J.T.2
-
2
-
-
84859816485
-
Childhood spinal muscular atrophy: Controversies and challenges
-
PMID: 22516079
-
Mercuri E, Bertini E, Iannaccone ST. Childhood spinal muscular atrophy: controversies and challenges. Lancet Neurol. 2012; 11: 443-452. doi: 10.1016/S1474-4422(12)70061-3 PMID: 22516079
-
(2012)
Lancet Neurol
, vol.11
, pp. 443-452
-
-
Mercuri, E.1
Bertini, E.2
Iannaccone, S.T.3
-
3
-
-
0037100098
-
Genetic risk assessment in carrier testing for spinal muscular atrophy
-
PMID: 12116201
-
Ogino S, Leonard DG, Rennert H, Ewens WJ, Wilson RB. Genetic risk assessment in carrier testing for spinal muscular atrophy. Am J Med Genet. 2002; 110: 301-307. PMID: 12116201
-
(2002)
Am J Med Genet
, vol.110
, pp. 301-307
-
-
Ogino, S.1
Leonard, D.G.2
Rennert, H.3
Ewens, W.J.4
Wilson, R.B.5
-
4
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
PMID: 7813012
-
Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995; 80: 155-165. PMID: 7813012
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Burglen, L.2
Reboullet, S.3
Clermont, O.4
Burlet, P.5
Viollet, L.6
-
5
-
-
84893017238
-
Spinal muscular atrophy: From gene discovery to clinical trials
-
PMID: 23879295
-
Nurputra DK, Lai PS, Harahap NI, Morikawa S, Yamamoto T, Nishimura N, et al. Spinal muscular atrophy: from gene discovery to clinical trials. Ann Hum Genet. 2013; 77: 435-463. doi: 10.1111/ahg.12031 PMID: 23879295
-
(2013)
Ann Hum Genet
, vol.77
, pp. 435-463
-
-
Nurputra, D.K.1
Lai, P.S.2
Harahap, N.I.3
Morikawa, S.4
Yamamoto, T.5
Nishimura, N.6
-
6
-
-
0343267780
-
Structure and organization of the human survival motor neurone (SMN) gene
-
PMID: 8838816
-
Burglen L, Lefebvre S, Clermont O, Burlet P, Viollet L, Cruaud C, et al. Structure and organization of the human survival motor neurone (SMN) gene. Genomics. 1996; 32: 479-482. PMID: 8838816
-
(1996)
Genomics
, vol.32
, pp. 479-482
-
-
Burglen, L.1
Lefebvre, S.2
Clermont, O.3
Burlet, P.4
Viollet, L.5
Cruaud, C.6
-
7
-
-
0033033434
-
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
-
PMID: 10339583
-
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: 6307-6311. PMID: 10339583
-
(1999)
Proc Natl Acad Sci U S A
, vol.96
, pp. 6307-6311
-
-
Lorson, C.L.1
Hahnen, E.2
Androphy, E.J.3
Wirth, B.4
-
8
-
-
0032799998
-
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
-
PMID: 10369862
-
Monani UR, Lorson CL, Parsons DW, Prior TW, Androphy EJ, Burghes AH, 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: 1177-1183. PMID: 10369862
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1177-1183
-
-
Monani, U.R.1
Lorson, C.L.2
Parsons, D.W.3
Prior, T.W.4
Androphy, E.J.5
Burghes, A.H.6
-
9
-
-
0036544654
-
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
-
PMID: 11925564
-
Cartegni L, Krainer AR. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet. 2002; 30: 377-384. PMID: 11925564
-
(2002)
Nat Genet
, vol.30
, pp. 377-384
-
-
Cartegni, L.1
Krainer, A.R.2
-
10
-
-
0041665176
-
A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
-
PMID: 12833158
-
Kashima T, Manley JL. A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat Genet. 2003; 34: 460-463. PMID: 12833158
-
(2003)
Nat Genet
, vol.34
, pp. 460-463
-
-
Kashima, T.1
Manley, J.L.2
-
11
-
-
0034662922
-
Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)
-
PMID: 10931943
-
Hofmann Y, Lorson CL, Stamm S, Androphy EJ, Wirth B. 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 U S A. 2000; 97: 9618-9623. PMID: 10931943
-
(2000)
Proc Natl Acad Sci U S A
, vol.97
, pp. 9618-9623
-
-
Hofmann, Y.1
Lorson, C.L.2
Stamm, S.3
Androphy, E.J.4
Wirth, B.5
-
12
-
-
0037101846
-
hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1
-
PMID: 12165565
-
Hofmann Y, Wirth B. hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1. Hum Mol Genet. 2002; 11: 2037-2049. PMID: 12165565
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2037-2049
-
-
Hofmann, Y.1
Wirth, B.2
-
13
-
-
0036501065
-
SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1
-
PMID: 11875052
-
Young PJ, DiDonato CJ, Hu D, Kothary R, Androphy EJ, Lorson CL. SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1. Hum Mol Genet. 2002; 11: 577-587. PMID: 11875052
-
(2002)
Hum Mol Genet
, vol.11
, pp. 577-587
-
-
Young, P.J.1
DiDonato, C.J.2
Hu, D.3
Kothary, R.4
Androphy, E.J.5
Lorson, C.L.6
-
14
-
-
78649520744
-
SMN and Gemins: 'We are family'... or are we?: Insights into the partnership between Gemins and the spinal muscular atrophy disease protein SMN
-
PMID: 20954180
-
Cauchi RJ. SMN and Gemins: 'we are family' . . . or are we?: insights into the partnership between Gemins and the spinal muscular atrophy disease protein SMN. Bioessays. 2010; 32: 1077-1089. doi: 10.1002/bies.201000088 PMID: 20954180
-
(2010)
Bioessays
, vol.32
, pp. 1077-1089
-
-
Cauchi, R.J.1
-
15
-
-
0030931727
-
The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins
-
PMID: 9323129
-
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: 1013-1021. PMID: 9323129
-
(1997)
Cell
, vol.90
, pp. 1013-1021
-
-
Liu, Q.1
Fischer, U.2
Wang, F.3
Dreyfuss, G.4
-
16
-
-
0033552589
-
Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems
-
PMID: 10601333
-
Charroux B, Pellizzoni L, Perkinson RA, Shevchenko A, Mann M, Dreyfuss G. 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. 1999; 147: 1181-1194. PMID: 10601333
-
(1999)
J Cell Biol
, vol.147
, pp. 1181-1194
-
-
Charroux, B.1
Pellizzoni, L.2
Perkinson, R.A.3
Shevchenko, A.4
Mann, M.5
Dreyfuss, G.6
-
17
-
-
0034688999
-
Gemin4. A novel component of the SMN complex that is found in both gems and nucleoli
-
PMID: 10725331
-
Charroux B, Pellizzoni L, Perkinson RA, Yong J, Shevchenko A, Mann M, et al. Gemin4. A novel component of the SMN complex that is found in both gems and nucleoli. J Cell Biol. 2000; 148: 1177-1186. PMID: 10725331
-
(2000)
J Cell Biol
, vol.148
, pp. 1177-1186
-
-
Charroux, B.1
Pellizzoni, L.2
Perkinson, R.A.3
Yong, J.4
Shevchenko, A.5
Mann, M.6
-
18
-
-
0037085390
-
Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins
-
PMID: 11714716
-
Gubitz AK, Mourelatos Z, Abel L, Rappsilber J, Mann M, Dreyfuss G. Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins. J Biol Chem. 2002; 277: 5631-5636. PMID: 11714716
-
(2002)
J Biol Chem
, vol.277
, pp. 5631-5636
-
-
Gubitz, A.K.1
Mourelatos, Z.2
Abel, L.3
Rappsilber, J.4
Mann, M.5
Dreyfuss, G.6
-
19
-
-
0036510395
-
Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component
-
PMID: 11748230
-
Pellizzoni L, Baccon J, Rappsilber J, Mann M, Dreyfuss G. Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component. J Biol Chem. 2002; 277: 7540-7545. PMID: 11748230
-
(2002)
J Biol Chem
, vol.277
, pp. 7540-7545
-
-
Pellizzoni, L.1
Baccon, J.2
Rappsilber, J.3
Mann, M.4
Dreyfuss, G.5
-
20
-
-
0037200002
-
Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex
-
PMID: 12065586
-
Baccon J, Pellizzoni L, Rappsilber J, Mann M, Dreyfuss G. Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex. J Biol Chem. 2002; 277: 31957-31962. PMID: 12065586
-
(2002)
J Biol Chem
, vol.277
, pp. 31957-31962
-
-
Baccon, J.1
Pellizzoni, L.2
Rappsilber, J.3
Mann, M.4
Dreyfuss, G.5
-
21
-
-
33646377172
-
Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assembly
-
PMID: 16434402
-
Carissimi C, Saieva L, Baccon J, Chiarella P, Maiolica A, Sawyer A, et al. Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assembly. J Biol Chem. 2006; 281: 8126-8134. PMID: 16434402
-
(2006)
J Biol Chem
, vol.281
, pp. 8126-8134
-
-
Carissimi, C.1
Saieva, L.2
Baccon, J.3
Chiarella, P.4
Maiolica, A.5
Sawyer, A.6
-
22
-
-
27544502473
-
Unrip, a factor implicated in cap-independent translation, associates with the cytosolic SMN complex and influences its intracellular localization
-
PMID: 16159890
-
Grimmler M, Otter S, Peter C, Muller F, Chari A, Fischer U. Unrip, a factor implicated in cap-independent translation, associates with the cytosolic SMN complex and influences its intracellular localization. Hum Mol Genet. 2005; 14: 3099-3111. PMID: 16159890
-
(2005)
Hum Mol Genet
, vol.14
, pp. 3099-3111
-
-
Grimmler, M.1
Otter, S.2
Peter, C.3
Muller, F.4
Chari, A.5
Fischer, U.6
-
23
-
-
66049124365
-
The role of RNP biogenesis in spinal muscular atrophy
-
PMID: 19286363
-
Chari A, Paknia E, Fischer U. The role of RNP biogenesis in spinal muscular atrophy. Curr Opin Cell Biol. 2009; 21: 387-393. doi: 10.1016/j.ceb.2009.02.004 PMID: 19286363
-
(2009)
Curr Opin Cell Biol
, vol.21
, pp. 387-393
-
-
Chari, A.1
Paknia, E.2
Fischer, U.3
-
24
-
-
84862139693
-
Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy
-
PMID: 22424789
-
Workman E, Kolb SJ, Battle DJ. Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy. Brain Res. 2012; 1462: 93-99. doi: 10.1016/j.brainres.2012.02.051 PMID: 22424789
-
(2012)
Brain Res
, vol.1462
, pp. 93-99
-
-
Workman, E.1
Kolb, S.J.2
Battle, D.J.3
-
25
-
-
34548152119
-
Molecular functions of the SMN complex
-
PMID: 17761654
-
Kolb SJ, Battle DJ, Dreyfuss G. Molecular functions of the SMN complex. J Child Neurol. 2007; 22: 990-994. PMID: 17761654
-
(2007)
J Child Neurol
, vol.22
, pp. 990-994
-
-
Kolb, S.J.1
Battle, D.J.2
Dreyfuss, G.3
-
26
-
-
84857733745
-
SMN in spinal muscular atrophy and snRNP biogenesis
-
PMID: 21957043
-
Coady TH, Lorson CL. SMN in spinal muscular atrophy and snRNP biogenesis. Wiley Interdiscip Rev RNA. 2011; 2: 546-564. doi: 10.1002/wrna.76 PMID: 21957043
-
(2011)
Wiley Interdiscip Rev RNA
, vol.2
, pp. 546-564
-
-
Coady, T.H.1
Lorson, C.L.2
-
27
-
-
0345169036
-
Splicing double: Insights from the second spliceosome
-
PMID: 14685174
-
Patel AA, Steitz JA. Splicing double: insights from the second spliceosome. Nat Rev Mol Cell Biol. 2003; 4: 960-970. PMID: 14685174
-
(2003)
Nat Rev Mol Cell Biol
, vol.4
, pp. 960-970
-
-
Patel, A.A.1
Steitz, J.A.2
-
28
-
-
33749264614
-
Spinal muscular atrophy: From gene to therapy
-
PMID: 17027862
-
Wirth B, Brichta L, Hahnen E. Spinal muscular atrophy: from gene to therapy. Semin Pediatr Neurol. 2006; 13: 121-131. PMID: 17027862
-
(2006)
Semin Pediatr Neurol
, vol.13
, pp. 121-131
-
-
Wirth, B.1
Brichta, L.2
Hahnen, E.3
-
29
-
-
0345599021
-
Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons
-
PMID: 14623865
-
Rossoll W, Jablonka S, Andreassi C, Kroning AK, Karle K, Monani UR, 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: 801-812. PMID: 14623865
-
(2003)
J Cell Biol
, vol.163
, pp. 801-812
-
-
Rossoll, W.1
Jablonka, S.2
Andreassi, C.3
Kroning, A.K.4
Karle, K.5
Monani, U.R.6
-
30
-
-
0033987669
-
A mouse model for spinal muscular atrophy
-
PMID: 10615130
-
Hsieh-Li HM, Chang JG, Jong YJ, Wu MH, Wang NM, Tsai CH, et al. A mouse model for spinal muscular atrophy. Nat Genet. 2000; 24: 66-70. PMID: 10615130
-
(2000)
Nat Genet
, vol.24
, pp. 66-70
-
-
Hsieh-Li, H.M.1
Chang, J.G.2
Jong, Y.J.3
Wu, M.H.4
Wang, N.M.5
Tsai, C.H.6
-
31
-
-
0034639645
-
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy
-
PMID: 10655541
-
Monani UR, Sendtner M, Coovert DD, Parsons DW, Andreassi C, Le TT, 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. 2000; 9: 333-339. PMID: 10655541
-
(2000)
Hum Mol Genet
, vol.9
, pp. 333-339
-
-
Monani, U.R.1
Sendtner, M.2
Coovert, D.D.3
Parsons, D.W.4
Andreassi, C.5
Le, T.T.6
-
32
-
-
55849144692
-
The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene
-
PMID: 18794368
-
Chen HH, Chang JG, Lu RM, Peng TY, Tarn WY. The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene. Mol Cell Biol. 2008; 28: 6929-6938. doi: 10.1128/MCB.01332-08 PMID: 18794368
-
(2008)
Mol Cell Biol
, vol.28
, pp. 6929-6938
-
-
Chen, H.H.1
Chang, J.G.2
Lu, R.M.3
Peng, T.Y.4
Tarn, W.Y.5
-
33
-
-
0035158371
-
An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: Potential therapy of SMA
-
PMID: 11704813
-
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: 1532-1538. PMID: 11704813
-
(2001)
Gene Ther
, vol.8
, pp. 1532-1538
-
-
Zhang, M.L.1
Lorson, C.L.2
Androphy, E.J.3
Zhou, J.4
-
34
-
-
67651083390
-
Spinal muscular atrophy: Why do low levels of survival motor neuron protein make motor neurons sick?
-
PMID: 19584893
-
Burghes AH, Beattie CE. Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? Nat Rev Neurosci. 2009; 10: 597-609. doi: 10.1038/nrn2670 PMID: 19584893
-
(2009)
Nat Rev Neurosci
, vol.10
, pp. 597-609
-
-
Burghes, A.H.1
Beattie, C.E.2
-
35
-
-
84884181118
-
hnRNP A1: The Swiss army knife of gene expression
-
PMID: 24065100
-
Jean-Philippe J, Paz S, Caputi M. hnRNP A1: the Swiss army knife of gene expression. Int J Mol Sci. 2013; 14: 18999-19024. doi: 10.3390/ijms140918999 PMID: 24065100
-
(2013)
Int J Mol Sci
, vol.14
, pp. 18999-19024
-
-
Jean-Philippe, J.1
Paz, S.2
Caputi, M.3
-
36
-
-
0141834020
-
Evidence for a modifying pathway in SMA discordant families: Reduced SMN level decreases the amount of its interacting partners and Htra2-beta1
-
PMID: 14520560
-
Helmken C, Hofmann Y, Schoenen F, Oprea G, Raschke H, Rudnik-Schoneborn S, et al. Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1. Hum Genet. 2003; 114: 11-21. PMID: 14520560
-
(2003)
Hum Genet
, vol.114
, pp. 11-21
-
-
Helmken, C.1
Hofmann, Y.2
Schoenen, F.3
Oprea, G.4
Raschke, H.5
Rudnik-Schoneborn, S.6
-
37
-
-
0034353187
-
Exclusion of Htra2-beta1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy
-
PMID: 11153908
-
Helmken C, Wirth B. Exclusion of Htra2-beta1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy. Hum Genet. 2000; 107: 554-558. PMID: 11153908
-
(2000)
Hum Genet
, vol.107
, pp. 554-558
-
-
Helmken, C.1
Wirth, B.2
-
38
-
-
84884195895
-
Spinal muscular atrophy: An update on therapeutic progress
-
PMID: 23994186
-
Seo J, Howell MD, Singh NN, Singh RN. Spinal muscular atrophy: an update on therapeutic progress. Biochim Biophys Acta. 2013; 1832: 2180-2190. doi: 10.1016/j.bbadis.2013.08.005 PMID: 23994186
-
(2013)
Biochim Biophys Acta
, vol.1832
, pp. 2180-2190
-
-
Seo, J.1
Howell, M.D.2
Singh, N.N.3
Singh, R.N.4
-
39
-
-
33847358736
-
Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy
-
PMID: 17318264
-
Avila AM, Burnett BG, Taye AA, Gabanella F, Knight MA, Hartenstein P, et al. Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J Clin Invest. 2007; 117: 659-671. PMID: 17318264
-
(2007)
J Clin Invest
, vol.117
, 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
|