-
1
-
-
34648847089
-
Smn depletion alters profilin II expression and leads to upregulation of the RhoA/ROCK pathway and defects in neuronal integrity
-
Bowerman M., Shafey D., and Kothary R. Smn depletion alters profilin II expression and leads to upregulation of the RhoA/ROCK pathway and defects in neuronal integrity. J. Mol. Neurosci. 32 (2007) 120-131
-
(2007)
J. Mol. Neurosci.
, vol.32
, pp. 120-131
-
-
Bowerman, M.1
Shafey, D.2
Kothary, R.3
-
2
-
-
33751100104
-
Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis
-
Carrel T.L., McWhorter M.L., Workman E., Zhang H., Wolstencroft E.C., Lorson C., Bassell G.J., Burghes A.H., and Beattie C.E. Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis. J. Neurosci. 26 (2006) 11014-11022
-
(2006)
J. Neurosci.
, vol.26
, pp. 11014-11022
-
-
Carrel, T.L.1
McWhorter, M.L.2
Workman, E.3
Zhang, H.4
Wolstencroft, E.C.5
Lorson, C.6
Bassell, G.J.7
Burghes, A.H.8
Beattie, C.E.9
-
3
-
-
0036544654
-
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
-
Cartegni L., and Krainer A.R. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat. Genet. 30 (2002) 377-384
-
(2002)
Nat. Genet.
, vol.30
, pp. 377-384
-
-
Cartegni, L.1
Krainer, A.R.2
-
4
-
-
34547117851
-
Restoration of SMN function: delivery of a trans-splicing RNA re-directs SMN2 pre-mRNA splicing
-
Coady T.H., Shababi M., Tullis G.E., and Lorson C.L. Restoration of SMN function: delivery of a trans-splicing RNA re-directs SMN2 pre-mRNA splicing. Mol. Ther. 15 (2007) 1471-1478
-
(2007)
Mol. Ther.
, vol.15
, pp. 1471-1478
-
-
Coady, T.H.1
Shababi, M.2
Tullis, G.E.3
Lorson, C.L.4
-
5
-
-
8544283791
-
The survival motor neuron protein in spinal muscular atrophy
-
Coovert D.D., Le T.T., McAndrew P.E., Strasswimmer J., Crawford T.O., Mendell J.R., Coulson S.E., Androphy E.J., Prior T.W., and Burghes A.H. The survival motor neuron protein in spinal muscular atrophy. Hum. Mol. Genet. 6 (1997) 1205-1214
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1205-1214
-
-
Coovert, D.D.1
Le, T.T.2
McAndrew, P.E.3
Strasswimmer, J.4
Crawford, T.O.5
Mendell, J.R.6
Coulson, S.E.7
Androphy, E.J.8
Prior, T.W.9
Burghes, A.H.10
-
6
-
-
0030130574
-
The neurobiology of childhood spinal muscular atrophy
-
Crawford T.O., and Pardo C.A. The neurobiology of childhood spinal muscular atrophy. Neurobiol. Dis. 3 (1996) 97-110
-
(1996)
Neurobiol. Dis.
, vol.3
, pp. 97-110
-
-
Crawford, T.O.1
Pardo, C.A.2
-
7
-
-
0030928716
-
The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis
-
Fischer U., Liu Q., and Dreyfuss G. The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. Cell 90 (1997) 1023-1029
-
(1997)
Cell
, vol.90
, pp. 1023-1029
-
-
Fischer, U.1
Liu, Q.2
Dreyfuss, G.3
-
8
-
-
0000941592
-
Spinal muscular atrophy
-
Iannaccone S.T. Spinal muscular atrophy. Semin. Neurol. 18 (1998) 19-26
-
(1998)
Semin. Neurol.
, vol.18
, pp. 19-26
-
-
Iannaccone, S.T.1
-
9
-
-
20144385587
-
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
-
Le T.T., Pham L.T., Butchbach M.E., Zhang H.L., Monani U.R., Coovert D.D., Gavrilina T.O., Xing L., Bassell G.J., and Burghes A.H. 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. 14 (2005) 845-857
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 845-857
-
-
Le, T.T.1
Pham, L.T.2
Butchbach, M.E.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.10
-
10
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre S., Burglen L., Reboullet S., Clermont O., Burlet P., Viollet L., Benichou B., Cruaud C., Millasseau P., Zeviani M., Le Paslier D., Frézal J., Cohen D., Weissenbach J., Munnich A., and Melki J. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80 (1995) 155-165
-
(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
Benichou, B.7
Cruaud, C.8
Millasseau, P.9
Zeviani, M.10
Le Paslier, D.11
Frézal, J.12
Cohen, D.13
Weissenbach, J.14
Munnich, A.15
Melki, J.16
-
11
-
-
0030981541
-
Correlation between severity and SMN protein level in spinal muscular atrophy
-
Lefebvre S., Burlet P., Liu Q., Bertrandy S., Clermont O., Munnich A., Dreyfuss G., and Melki J. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat. Genet. 16 (1997) 265-269
-
(1997)
Nat. Genet.
, vol.16
, 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
-
12
-
-
0033983258
-
An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
-
Lorson C.L., and Androphy E.J. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN. Hum. Mol. Genet. 9 (2000) 259-265
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 259-265
-
-
Lorson, C.L.1
Androphy, E.J.2
-
13
-
-
0033033434
-
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
-
Lorson C.L., Hahnen E., Androphy E.J., and 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. 96 (1999) 6307-6311
-
(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
-
14
-
-
8844240017
-
Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism
-
Lunn M.R., Root D.E., Martino A.M., Flaherty S.P., Kelley B.P., Coovert D.D., Burghes A.H., Man N.T., Morris G.E., Zhou J., Androphy E.J., Sumner C.J., and Stockwell B.R. Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism. Chem. Biol. 11 (2004) 1489-1493
-
(2004)
Chem. Biol.
, vol.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
Man, N.T.8
Morris, G.E.9
Zhou, J.10
Androphy, E.J.11
Sumner, C.J.12
Stockwell, B.R.13
-
15
-
-
33750570039
-
Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts
-
Mattis V.B., Rai R., Wang J., Chang C.W., Coady T., and Lorson C.L. Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts. Hum. Genet. (2006)
-
(2006)
Hum. Genet.
-
-
Mattis, V.B.1
Rai, R.2
Wang, J.3
Chang, C.W.4
Coady, T.5
Lorson, C.L.6
-
16
-
-
0035735484
-
A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs
-
Meister G., Buhler D., Pillai R., Lottspeich F., and Fischer U. A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs. Nat. Cell Biol. 3 (2001) 945-949
-
(2001)
Nat. Cell Biol.
, vol.3
, pp. 945-949
-
-
Meister, G.1
Buhler, D.2
Pillai, R.3
Lottspeich, F.4
Fischer, U.5
-
17
-
-
0032799998
-
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
-
Monani U.R., Lorson C.L., Parsons D.W., Prior T.W., Androphy E.J., Burghes A.H., and McPherson J.D. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum. Mol. Genet. 8 (1999) 1177-1183
-
(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
McPherson, J.D.7
-
18
-
-
0034639645
-
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy
-
Monani U.R., Sendtner M., Coovert D.D., Parsons D.W., Andreassi C., Le T.T., Jablonka S., Schrank B., Rossol W., Prior T.W., Morris G.E., and Burghes A.H. The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. Hum. Mol. Genet. 9 (2000) 333-339
-
(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
Jablonka, S.7
Schrank, B.8
Rossol, W.9
Prior, T.W.10
Morris, G.E.11
Burghes, A.H.12
-
19
-
-
0036591880
-
The SMN complex, an assemblyosome of ribonucleoproteins
-
Paushkin S., Gubitz A.K., Massenet S., and Dreyfuss G. The SMN complex, an assemblyosome of ribonucleoproteins. Curr. Opin. Cell Biol. 14 (2002) 305-312
-
(2002)
Curr. Opin. Cell Biol.
, vol.14
, pp. 305-312
-
-
Paushkin, S.1
Gubitz, A.K.2
Massenet, S.3
Dreyfuss, G.4
-
20
-
-
2242443509
-
Essential role for the SMN complex in the specificity of snRNP assembly
-
Pellizzoni L., Yong J., and Dreyfuss G. Essential role for the SMN complex in the specificity of snRNP assembly. Science 298 (2002) 1775-1779
-
(2002)
Science
, vol.298
, pp. 1775-1779
-
-
Pellizzoni, L.1
Yong, J.2
Dreyfuss, G.3
-
21
-
-
33646135323
-
Therapeutics development for spinal muscular atrophy
-
Sumner C.J. Therapeutics development for spinal muscular atrophy. NeuroRx 3 (2006) 235-245
-
(2006)
NeuroRx
, vol.3
, pp. 235-245
-
-
Sumner, C.J.1
-
22
-
-
18144431041
-
A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels
-
Wolstencroft E.C., Mattis V., Bajer A.A., Young P.J., and Lorson C.L. A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels. Hum. Mol. Genet. 14 (2005) 1199-1210
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 1199-1210
-
-
Wolstencroft, E.C.1
Mattis, V.2
Bajer, A.A.3
Young, P.J.4
Lorson, C.L.5
-
23
-
-
0042202619
-
Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization
-
Zhang H.L., Pan F., Hong D., Shenoy S.M., Singer R.H., and Bassell G.J. Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization. J. Neurosci. 23 (2003) 6627-6637
-
(2003)
J. Neurosci.
, vol.23
, 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
|