-
1
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, et al. (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80: 155-165.
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Burglen, L.2
Reboullet, S.3
Clermont, O.4
Burlet, P.5
-
2
-
-
0028905919
-
Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy
-
Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, et al. (1995) Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet 4: 631-634.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 631-634
-
-
Rodrigues, N.R.1
Owen, N.2
Talbot, K.3
Ignatius, J.4
Dubowitz, V.5
-
3
-
-
8544283791
-
The survival motor neuron protein in spinal muscular atrophy
-
Coovert DD, Le TT, McAndrew PE, Strasswimmer J, Crawford TO, et al. (1997) The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet 6: 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
-
4
-
-
0030981541
-
Correlation between severity and SMN protein level in spinal muscular atrophy
-
Lefebvre S BP, Liu Q, Bertrandy S, Clermont O, Munnich A, et al. (1997) Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet 16: 265-269.
-
(1997)
Nat Genet
, vol.16
, pp. 265-269
-
-
Lefebvre, S.B.P.1
Liu, Q.2
Bertrandy, S.3
Clermont, O.4
Munnich, A.5
-
5
-
-
0033033434
-
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
-
Lorson CL, Hahnen E, Androphy EJ, Wirth B, (1999) A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci U S A 96: 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
-
6
-
-
0032799998
-
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
-
Monani UR, Lorson CL, Parsons DW, Prior TW, Androphy EJ, et al. (1999) A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 8: 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
-
7
-
-
77649114471
-
A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity
-
Cho S, Dreyfuss G, (2010) A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity. Genes Dev 24: 438-442.
-
(2010)
Genes Dev
, vol.24
, pp. 438-442
-
-
Cho, S.1
Dreyfuss, G.2
-
8
-
-
0031766532
-
Differential SMN2 expression associated with SMA severity
-
Gavrilov DK, Shi X, Das K, Gilliam TC, Wang CH, (1998) Differential SMN2 expression associated with SMA severity. Nat Genet 20: 230-231.
-
(1998)
Nat Genet
, vol.20
, pp. 230-231
-
-
Gavrilov, D.K.1
Shi, X.2
Das, K.3
Gilliam, T.C.4
Wang, C.H.5
-
9
-
-
0031734722
-
Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy
-
Taylor JE, Thomas NH, Lewis CM, Abbs SJ, Rodrigues NR, et al. (1998) Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy. Eur J Hum Genet 6: 467-474.
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 467-474
-
-
Taylor, J.E.1
Thomas, N.H.2
Lewis, C.M.3
Abbs, S.J.4
Rodrigues, N.R.5
-
10
-
-
0033987669
-
A mouse model for spinal muscular atrophy
-
Hsieh-Li HM, Chang JG, Jong YJ, Wu MH, Wang NM, et al. (2000) A mouse model for spinal muscular atrophy. Nat Genet 24: 66-70.
-
(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
-
11
-
-
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 UR, Sendtner M, Coovert DD, Parsons DW, Andreassi C, et al. (2000) 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: 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
-
12
-
-
0030928716
-
The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis
-
Fischer U, Liu Q, Dreyfuss G, (1997) The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. Cell 90: 1023-1029.
-
(1997)
Cell
, vol.90
, pp. 1023-1029
-
-
Fischer, U.1
Liu, Q.2
Dreyfuss, G.3
-
13
-
-
0030931727
-
The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins
-
Liu Q, Fischer U, Wang F, Dreyfuss G, (1997) The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. Cell 90: 1013-1021.
-
(1997)
Cell
, vol.90
, pp. 1013-1021
-
-
Liu, Q.1
Fischer, U.2
Wang, F.3
Dreyfuss, G.4
-
14
-
-
0242683460
-
Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy
-
Buhler D, Raker V, Luhrmann R, Fischer U, (1999) Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy. Hum Mol Genet 8: 2351-2357.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2351-2357
-
-
Buhler, D.1
Raker, V.2
Luhrmann, R.3
Fischer, U.4
-
15
-
-
0034096078
-
Subcellular localization and axonal transport of the survival motor neuron (SMN) protein in the developing rat spinal cord
-
Pagliardini S, Giavazzi A, Setola V, Lizier C, Di Luca M, et al. (2000) Subcellular localization and axonal transport of the survival motor neuron (SMN) protein in the developing rat spinal cord. Hum Mol Genet 9: 47-56.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 47-56
-
-
Pagliardini, S.1
Giavazzi, A.2
Setola, V.3
Lizier, C.4
Di Luca, M.5
-
16
-
-
0042202619
-
Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization
-
Zhang HL, Pan F, Hong D, Shenoy SM, Singer RH, et al. (2003) Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization. J Neurosci 23: 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
-
17
-
-
33748186105
-
Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons
-
Zhang H, Xing L, Rossoll W, Wichterle H, Singer RH, et al. (2006) Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons. J Neurosci 26: 8622-8632.
-
(2006)
J Neurosci
, vol.26
, pp. 8622-8632
-
-
Zhang, H.1
Xing, L.2
Rossoll, W.3
Wichterle, H.4
Singer, R.H.5
-
18
-
-
77955549610
-
SMN, Gemin2 and Gemin3 associate with beta-actin mRNA in the cytoplasm of neuronal cells in vitro
-
Todd AG, Morse R, Shaw DJ, McGinley S, Stebbings H, et al. (2010) SMN, Gemin2 and Gemin3 associate with beta-actin mRNA in the cytoplasm of neuronal cells in vitro. J Mol Biol 401: 681-689.
-
(2010)
J Mol Biol
, vol.401
, pp. 681-689
-
-
Todd, A.G.1
Morse, R.2
Shaw, D.J.3
McGinley, S.4
Stebbings, H.5
-
19
-
-
0345599021
-
Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons
-
Rossoll W, Jablonka S, Andreassi C, Kroning AK, Karle K, et al. (2003) 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 163: 801-812.
-
(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
-
20
-
-
34047124905
-
Stat5 constitutive activation rescues defects in spinal muscular atrophy
-
Ting CH, Lin CW, Wen SL, Hsieh-Li HM, Li H, (2007) Stat5 constitutive activation rescues defects in spinal muscular atrophy. Hum Mol Genet 16: 499-514.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 499-514
-
-
Ting, C.H.1
Lin, C.W.2
Wen, S.L.3
Hsieh-Li, H.M.4
Li, H.5
-
21
-
-
77952538901
-
Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy
-
Wen HL, Lin YT, Ting CH, Lin-Chao S, Li H, et al. (2010) Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy. Hum Mol Genet 19: 1766-1778.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 1766-1778
-
-
Wen, H.L.1
Lin, Y.T.2
Ting, C.H.3
Lin-Chao, S.4
Li, H.5
-
22
-
-
79954519035
-
The COPI vesicle complex binds and moves with survival motor neuron within axons
-
Peter CJ, Evans M, Thayanithy V, Taniguchi-Ishigaki N, Bach I, et al. (2011) The COPI vesicle complex binds and moves with survival motor neuron within axons. Hum Mol Genet 20: 1701-1711.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 1701-1711
-
-
Peter, C.J.1
Evans, M.2
Thayanithy, V.3
Taniguchi-Ishigaki, N.4
Bach, I.5
-
23
-
-
0038050371
-
Cisternal maturation and vesicle transport: join the band wagon! (Review)
-
Elsner M, Hashimoto H, Nilsson T, (2003) Cisternal maturation and vesicle transport: join the band wagon! (Review). Mol Membr Biol 20: 221-229.
-
(2003)
Mol Membr Biol
, vol.20
, pp. 221-229
-
-
Elsner, M.1
Hashimoto, H.2
Nilsson, T.3
-
24
-
-
0032428684
-
SARA, a FYVE domain protein that recruits Smad2 to the TGFbeta receptor
-
Tsukazaki T, Chiang TA, Davison AF, Attisano L, Wrana JL, (1998) SARA, a FYVE domain protein that recruits Smad2 to the TGFbeta receptor. Cell 95: 779-791.
-
(1998)
Cell
, vol.95
, pp. 779-791
-
-
Tsukazaki, T.1
Chiang, T.A.2
Davison, A.F.3
Attisano, L.4
Wrana, J.L.5
-
25
-
-
0026465350
-
Neuroblastoma x spinal cord (NSC) hybrid cell lines resemble developing motor neurons
-
Cashman NR, Durham HD, Blusztajn JK, Oda K, Tabira T, et al. (1992) Neuroblastoma x spinal cord (NSC) hybrid cell lines resemble developing motor neurons. Dev Dyn 194: 209-221.
-
(1992)
Dev Dyn
, vol.194
, pp. 209-221
-
-
Cashman, N.R.1
Durham, H.D.2
Blusztajn, J.K.3
Oda, K.4
Tabira, T.5
-
26
-
-
38849199865
-
Characterization and use of the NSC-34 cell line for study of neurotrophin receptor trafficking
-
Matusica D, Fenech MP, Rogers ML, Rush RA, (2008) Characterization and use of the NSC-34 cell line for study of neurotrophin receptor trafficking. J Neurosci Res 86: 553-565.
-
(2008)
J Neurosci Res
, vol.86
, pp. 553-565
-
-
Matusica, D.1
Fenech, M.P.2
Rogers, M.L.3
Rush, R.A.4
-
27
-
-
53349164540
-
Dynein is required for polarized dendritic transport and uniform microtubule orientation in axons
-
Zheng Y, Wildonger J, Ye B, Zhang Y, Kita A, et al. (2008) Dynein is required for polarized dendritic transport and uniform microtubule orientation in axons. Nat Cell Biol 10: 1172-1180.
-
(2008)
Nat Cell Biol
, vol.10
, pp. 1172-1180
-
-
Zheng, Y.1
Wildonger, J.2
Ye, B.3
Zhang, Y.4
Kita, A.5
-
28
-
-
0036154096
-
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?
-
Rossoll W, Kroning AK, Ohndorf UM, Steegborn C, Jablonka S, et al. (2002) 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 11: 93-105.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 93-105
-
-
Rossoll, W.1
Kroning, A.K.2
Ohndorf, U.M.3
Steegborn, C.4
Jablonka, S.5
-
29
-
-
34548309100
-
QNQKE targeting motif for the SMN-Gemin multiprotein complexin neurons
-
Zhang H, Xing L, Singer RH, Bassell GJ, (2007) QNQKE targeting motif for the SMN-Gemin multiprotein complexin neurons. J Neurosci Res 85: 2657-2667.
-
(2007)
J Neurosci Res
, vol.85
, pp. 2657-2667
-
-
Zhang, H.1
Xing, L.2
Singer, R.H.3
Bassell, G.J.4
-
30
-
-
33646749270
-
Dense-core secretory granule biogenesis
-
Kim T, Gondre-Lewis MC, Arnaoutova I, Loh YP, (2006) Dense-core secretory granule biogenesis. Physiology (Bethesda) 21: 124-133.
-
(2006)
Physiology (Bethesda)
, vol.21
, pp. 124-133
-
-
Kim, T.1
Gondre-Lewis, M.C.2
Arnaoutova, I.3
Loh, Y.P.4
-
31
-
-
41949136666
-
In vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile X mental retardation protein
-
Piazzon N, Rage F, Schlotter F, Moine H, Branlant C, et al. (2008) In vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile X mental retardation protein. J Biol Chem 283: 5598-5610.
-
(2008)
J Biol Chem
, vol.283
, pp. 5598-5610
-
-
Piazzon, N.1
Rage, F.2
Schlotter, F.3
Moine, H.4
Branlant, C.5
-
32
-
-
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, Silani V, Singer RH, et al. (2011) 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 31: 3914-3925.
-
(2011)
J Neurosci
, vol.31
, pp. 3914-3925
-
-
Fallini, C.1
Zhang, H.2
Su, Y.3
Silani, V.4
Singer, R.H.5
-
33
-
-
78651094423
-
HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects
-
Hubers L, Valderrama-Carvajal H, Laframboise J, Timbers J, Sanchez G, et al. (2011) HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects. Hum Mol Genet 20: 553-579.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 553-579
-
-
Hubers, L.1
Valderrama-Carvajal, H.2
Laframboise, J.3
Timbers, J.4
Sanchez, G.5
-
34
-
-
33846930562
-
Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis
-
Setola V, Terao M, Locatelli D, Bassanini S, Garattini E, et al. (2007) Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis. Proc Natl Acad Sci U S A 104: 1959-1964.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 1959-1964
-
-
Setola, V.1
Terao, M.2
Locatelli, D.3
Bassanini, S.4
Garattini, E.5
-
35
-
-
6344257200
-
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
-
Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, et al. (2004) A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet 75: 822-831.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 822-831
-
-
Nishimura, A.L.1
Mitne-Neto, M.2
Silva, H.C.3
Richieri-Costa, A.4
Middleton, S.5
-
36
-
-
33744531110
-
Fragmentation of the Golgi apparatus in neurodegenerative diseases and cell death
-
Gonatas NK, Stieber A, Gonatas JO, (2006) Fragmentation of the Golgi apparatus in neurodegenerative diseases and cell death. J Neurol Sci 246: 21-30.
-
(2006)
J Neurol Sci
, vol.246
, pp. 21-30
-
-
Gonatas, N.K.1
Stieber, A.2
Gonatas, J.O.3
|