-
1
-
-
10744229981
-
Phenylbutyrate increases SMN expression in vitro: Relevance for treatment of spinal muscular atrophy
-
Andreassi C, Angelozzi C, Tiziano FD, Vitali T, De Vincenzi E, Boninsegna A, Villanova M, Bertini E, Pini A, Neri G, Brahe C (2004) Phenylbutyrate increases SMN expression in vitro: Relevance for treatment of spinal muscular atrophy. Eur J Hum Genet 12:59-65
-
(2004)
Eur J Hum Genet
, vol.12
, 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
-
2
-
-
0035891862
-
Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients
-
Andreassi C, Jarecki J, Zhou J, Coovert DD, Monani UR, Chen X, Whitney M, Pollok B, Zhang M, Androphy E, Burghes AH (2001) Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients. Hum Mol Genet 10:2841-2849
-
(2001)
Hum Mol Genet
, vol.10
, 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.11
-
3
-
-
0034327218
-
Interferons and IRF-1 induce expression of the survival motor neuron (SMN) genes
-
Baron-Delage S, Abadie A, Echaniz-Laguna A, Melki J, Beretta L (2000) Interferons and IRF-1 induce expression of the survival motor neuron (SMN) genes. Mol Med 6:957-968
-
(2000)
Mol Med
, vol.6
, pp. 957-968
-
-
Baron-Delage, S.1
Abadie, A.2
Echaniz-Laguna, A.3
Melki, J.4
Beretta, L.5
-
4
-
-
13544258982
-
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients
-
Brahe C, Vitali T, Tiziano FD, Angelozzi C, Pinto AM, Borgo F, Moscato U, Bertini E, Mercuri E, Neri G (2005) Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients. Eur J Hum Genet 13:256-259
-
(2005)
Eur J Hum Genet
, vol.13
, 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
-
5
-
-
0141506887
-
Valproic acid increases the SMN2 protein level: A well-known drug as a potential therapy for spinal muscular atrophy
-
Brichta L, Hofmann Y, Hahnen E, Siebzehnrubl FA, Raschke H, Blumcke I, Eyupoglu IY, Wirth B (2003) Valproic acid increases the SMN2 protein level: A well-known drug as a potential therapy for spinal muscular atrophy. Hum Mol Genet 12:2481-2489
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2481-2489
-
-
Brichta, L.1
Hofmann, Y.2
Hahnen, E.3
Siebzehnrubl, F.A.4
Raschke, H.5
Blumcke, I.6
Eyupoglu, I.Y.7
Wirth, B.8
-
6
-
-
33744803707
-
In-vivo activation of SMN in SMA carriers and patients treated with valpr
-
April 10 [Epub ahead of print]
-
Brichta L, Holker I, Haug K, Klockgether T, Wirth B (2006) In-vivo activation of SMN in SMA carriers and patients treated with valpr. Ann Neurol 59 April 10; [Epub ahead of print]
-
(2006)
Ann Neurol
, vol.59
-
-
Brichta, L.1
Holker, I.2
Haug, K.3
Klockgether, T.4
Wirth, B.5
-
7
-
-
0030863569
-
When is a deletion not a deletion? When it is converted
-
Burghes AH (1997) When is a deletion not a deletion? When it is converted. Am J Hum Genet 61:9-15
-
(1997)
Am J Hum Genet
, vol.6
, pp. 9-15
-
-
Burghes, A.H.1
-
8
-
-
33646377172
-
Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assembly
-
Carissimi C, Saieva L, Baccon J, Chiarella P, Maiolica A, Sawyer A, Rappsilber J, Pellizzoni L (2006) Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assembly. J Biol Chem 281:8126-8134
-
(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
Rappsilber, J.7
Pellizzoni, L.8
-
9
-
-
0036544654
-
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
-
Cartegni L, Krainer AR (2002) Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet 30:377-384
-
(2002)
Nat Genet
, vol.30
, pp. 377-384
-
-
Cartegni, L.1
Krainer, A.R.2
-
10
-
-
29244490598
-
Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2
-
Cartegni L, Hastings ML, Calarco JA, de Stanchina E, Krainer AR (2006) Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. Am J Hum Genet 78:63-77
-
(2006)
Am J Hum Genet
, vol.78
, pp. 63-77
-
-
Cartegni, L.1
Hastings, M.L.2
Calarco, J.A.3
de Stanchina, E.4
Krainer, A.R.5
-
11
-
-
0035859952
-
Treatment of spinal muscular atrophy by sodium butyrate
-
Chang JG, Hsieh-Li HM, Jong YJ, Wang NM, Tsai CH, Li H (2001) Treatment of spinal muscular atrophy by sodium butyrate. Proc Natl Acad Sci USA 98:9808-9813
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 9808-9813
-
-
Chang, J.G.1
Hsieh-Li, H.M.2
Jong, Y.J.3
Wang, N.M.4
Tsai, C.H.5
Li, H.6
-
12
-
-
8544283791
-
The survival motor neuron protein in spinal muscular atrophy
-
Coovert DD, Le TT, McAndrew PE, Strasswimmer J, Crawford TO, Mendell JR, Coulson SE, Androphy EJ, Prior TW, Burghes AH (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
Mendell, J.R.6
Coulson, S.E.7
Androphy, E.J.8
Prior, T.W.9
Burghes, A.H.10
-
13
-
-
33745073751
-
Experimental therapy of malignant gliomas using the inhibitor of class I histone deacetylases MS-275
-
May 5; [Epub ahead of print]
-
Eyupoglu IY, Hahnen E, Trankle C, Savaskan NE, Siebzehnrubl FA, Buslei R, Lemke D, Wick W, Fahlbusch R, Blumcke I (2006) Experimental therapy of malignant gliomas using the inhibitor of class I histone deacetylases MS-275. Mol Cancer Ther May 5; [Epub ahead of print]
-
(2006)
Mol Cancer Ther
-
-
Eyupoglu, I.Y.1
Hahnen, E.2
Trankle, C.3
Savaskan, N.E.4
Siebzehnrubl, F.A.5
Buslei, R.6
Lemke, D.7
Wick, W.8
Fahlbusch, R.9
Blumcke, I.10
-
14
-
-
0036154959
-
Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
-
Feldkotter M, Schwarzer V, Wirth R, Wienker TF, Wirth B (2002) Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 70:358-368
-
(2002)
Am J Hum Genet
, vol.70
, pp. 358-368
-
-
Feldkotter, M.1
Schwarzer, V.2
Wirth, R.3
Wienker, T.F.4
Wirth, B.5
-
15
-
-
23244458683
-
Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells
-
Grzeschik SM, Ganta M, Prior TW, Heavlin WD, Wang CH (2005) Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells. Ann Neurol 58:194-202
-
(2005)
Ann Neurol
, vol.58
, pp. 194-202
-
-
Grzeschik, S.M.1
Ganta, M.2
Prior, T.W.3
Heavlin, W.D.4
Wang, C.H.5
-
17
-
-
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, Eyupoglu IY, Brichta L, Haastert K, Tränkle C, Siebzehnrübl FA, Riessland M, Höker I, Claus P, Romstöck J, Buslei R, Wirth B, Blümcke I (2006) In vitro and ex vivo evaluation of second-generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy. J Neurochem DOI:10.1111/ j.1471-4159.2006.03868.x
-
(2006)
J Neurochem
-
-
Hahnen, E.1
Eyupoglu, I.Y.2
Brichta, L.3
Haastert, K.4
Tränkle, C.5
Siebzehnrübl, F.A.6
Riessland, M.7
Höker, I.8
Claus, P.9
Romstöck, J.10
Buslei, R.11
Wirth, B.12
Blümcke, I.13
-
18
-
-
0141834020
-
Evidence for a modifying pathway in SMA discordant families: Reduced SMN level decreases the amount of its interacting partners and Htra2-beta1
-
Helmken C, Hofmann Y, Schoenen F, Oprea G, Raschke H, Rudnik-Schoneborn S, Zerres K, Wirth B (2003) Evidence for a modifying pathway in SMA discordant families: Reduced SMN level decreases the amount of its interacting partners and Htra2-beta1. Hum Genet 114:11-21
-
(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
Zerres, K.7
Wirth, B.8
-
19
-
-
0034662922
-
Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)
-
Hofmann Y, Lorson CL, Stamm S, Androphy EJ, Wirth B (2000) 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 97:9618-9623
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 9618-9623
-
-
Hofmann, Y.1
Lorson, C.L.2
Stamm, S.3
Androphy, E.J.4
Wirth, B.5
-
20
-
-
0037101846
-
hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1
-
Hofmann Y, Wirth B (2002) hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1. Hum Mol Genet 11:2037-2049
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2037-2049
-
-
Hofmann, Y.1
Wirth, B.2
-
21
-
-
0033987669
-
A mouse model for spinal muscular atrophy
-
Hsieh-Li HM, Chang JG, Jong YJ, Wu MH, Wang NM, Tsai CH, Li H (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
Tsai, C.H.6
Li, H.7
-
22
-
-
0033523895
-
Amide analogues of trichostatin A as inhibitors of histone deacetylase and inducers of terminal cell differentiation
-
Jung M, Brosch G, Kolle D, Scherf H, Gerhauser C, Loidl P (1999) Amide analogues of trichostatin A as inhibitors of histone deacetylase and inducers of terminal cell differentiation. J Med Chem 42:4669-4679
-
(1999)
J Med Chem
, vol.42
, pp. 4669-4679
-
-
Jung, M.1
Brosch, G.2
Kolle, D.3
Scherf, H.4
Gerhauser, C.5
Loidl, P.6
-
23
-
-
0041665176
-
A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
-
Kashima T, Manley JL (2003) A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat Genet 34:460-463
-
(2003)
Nat Genet
, vol.34
, pp. 460-463
-
-
Kashima, T.1
Manley, J.L.2
-
24
-
-
18144400082
-
The role of histone acetylation in SMN gene expression
-
Kernochan LE, Russo ML, Woodling NS, Huynh TN, Avila AM, Fischbeck KH, Sumner CJ (2005) The role of histone acetylation in SMN gene expression. Hum Mol Genet 14(9):1171-1182
-
(2005)
Hum Mol Genet
, vol.14
, Issue.9
, pp. 1171-1182
-
-
Kernochan, L.E.1
Russo, M.L.2
Woodling, N.S.3
Huynh, T.N.4
Avila, A.M.5
Fischbeck, K.H.6
Sumner, C.J.7
-
25
-
-
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 TT, Pham LT, Butchbach ME, Zhang HL, Monani UR, Coovert DD, Gavrilina TO, Xing L, Bassell GJ, Burghes AH (2005) 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 14:845-857
-
(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
-
26
-
-
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 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
Viollet, L.6
Benichou, B.7
Cruaud, C.8
Millasseau, P.9
Zeviani, M.10
-
27
-
-
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, Melki J (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.1
Burlet, P.2
Liu, Q.3
Bertrandy, S.4
Clermont, O.5
Munnich, A.6
Dreyfuss, G.7
Melki, J.8
-
28
-
-
0029954338
-
A novel nuclear structure containing the survival of motor neurons protein
-
Liu Q, Dreyfuss G (1996) A novel nuclear structure containing the survival of motor neurons protein. Embo J 15:3555-3565
-
(1996)
Embo J
, vol.15
, pp. 3555-3565
-
-
Liu, Q.1
Dreyfuss, G.2
-
29
-
-
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
-
30
-
-
0033983258
-
An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
-
Lorson CL, Androphy EJ (2000) An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN. Hum Mol Genet 9:259-265
-
(2000)
Hum Mol Genet
, vol.9
, pp. 259-265
-
-
Lorson, C.L.1
Androphy, E.J.2
-
31
-
-
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 USA 96:6307-6311
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 6307-6311
-
-
Lorson, C.L.1
Hahnen, E.2
Androphy, E.J.3
Wirth, B.4
-
32
-
-
0031800695
-
SMN oligomerization defect correlates with spinal muscular atrophy severity
-
Lorson CL, Strasswimmer J, Yao JM, Baleja JD, Hahnen E, Wirth B, Le T, Burghes AH, Androphy EJ (1998) SMN oligomerization defect correlates with spinal muscular atrophy severity. Nat Genet 19:63-66
-
(1998)
Nat Genet
, vol.19
, pp. 63-66
-
-
Lorson, C.L.1
Strasswimmer, J.2
Yao, J.M.3
Baleja, J.D.4
Hahnen, E.5
Wirth, B.6
Le, T.7
Burghes, A.H.8
Androphy, E.J.9
-
33
-
-
8844240017
-
Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism
-
Lunn MR, Root DE, Martino AM, Flaherty SP, Kelley BP, Coovert DD, Burghes AH, Man NT, Morris GE, Zhou J, Androphy EJ, Sumner CJ, Stockwell BR (2004) Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism. Chem Biol 11:1489-1493
-
(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
-
34
-
-
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, Le TT, Jablonka S, Schrank B, Rossol W, Prior TW, Morris GE, Burghes AH (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
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
-
35
-
-
0021061819
-
Rapid colorimetric assay for cellular growth and survival: Application to proliferation and cytotoxicity assays
-
Mosmann T (1983) Rapid colorimetric assay for cellular growth and survival: Application to proliferation and cytotoxicity assays. J Immunol Methods 65:55-63
-
(1983)
J Immunol Methods
, vol.6
, pp. 55-63
-
-
Mosmann, T.1
-
36
-
-
0027057672
-
International SMA consortium meeting
-
(26-28 June 1992, Bonn, Germany)
-
Munsat TL, Davies KE (1992) International SMA consortium meeting. (26-28 June 1992, Bonn, Germany). Neuromuscul Disord 2:423-428
-
(1992)
Neuromuscul Disord
, vol.2
, pp. 423-428
-
-
Munsat, T.L.1
Davies, K.E.2
-
37
-
-
0032952610
-
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis
-
Patrizi AL, Tiziano F, Zappata S, Donati MA, Neri G, Brahe C (1999) SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis. Eur J Hum Genet 7:301-309
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 301-309
-
-
Patrizi, A.L.1
Tiziano, F.2
Zappata, S.3
Donati, M.A.4
Neri, G.5
Brahe, C.6
-
38
-
-
0030916336
-
What's up and down with histone deacetylation and transcription?
-
Pazin MJ, Kadonaga JT (1997) What's up and down with histone deacetylation and transcription? Cell 89:325-328
-
(1997)
Cell
, vol.89
, pp. 325-328
-
-
Pazin, M.J.1
Kadonaga, J.T.2
-
39
-
-
0018165396
-
A clinical and genetic study of spinal muscular atrophy of adult onset: The autosomal recessive form as a discrete disease entity
-
Pearn JH, Hudgson P, Walton JN (1978) A clinical and genetic study of spinal muscular atrophy of adult onset: The autosomal recessive form as a discrete disease entity. Brain 101:591-606
-
(1978)
Brain
, vol.101
, pp. 591-606
-
-
Pearn, J.H.1
Hudgson, P.2
Walton, J.N.3
-
40
-
-
0032567036
-
A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing
-
Pellizzoni L, Kataoka N, Charroux B, Dreyfuss G (1998) A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing. Cell 95:615-624
-
(1998)
Cell
, vol.95
, pp. 615-624
-
-
Pellizzoni, L.1
Kataoka, N.2
Charroux, B.3
Dreyfuss, G.4
-
41
-
-
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, Monani UR, Sendtner M (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
Monani, U.R.6
Sendtner, M.7
-
42
-
-
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, Sendtner M (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
Sendtner, M.6
-
43
-
-
0242290062
-
Valproic acid increases SMN levels in spinal muscular atrophy patient cells
-
Sumner CJ, Huynh TN, Markowitz JA, Perhac JS, Hill B, Coovert DD, Schussler K, Chen X, Jarecki J, Burghes AH, Taylor JP, Fischbeck KH (2003) Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Ann Neurol 54:647-654
-
(2003)
Ann Neurol
, vol.54
, pp. 647-654
-
-
Sumner, C.J.1
Huynh, T.N.2
Markowitz, J.A.3
Perhac, J.S.4
Hill, B.5
Coovert, D.D.6
Schussler, K.7
Chen, X.8
Jarecki, J.9
Burghes, A.H.10
Taylor, J.P.11
Fischbeck, K.H.12
-
44
-
-
0034007548
-
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
-
Wirth B (2000) An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat 15:228-237
-
(2000)
Hum Mutat
, vol.15
, pp. 228-237
-
-
Wirth, B.1
-
45
-
-
0036501065
-
SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1
-
Young PJ, DiDonato CJ, Hu D, Kothary R, Androphy EJ, Lorson CL (2002) SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1. Hum Mol Genet 11:577-587
-
(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
-
47
-
-
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, Bassell GJ (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
Bassell, G.J.6
-
48
-
-
0035158371
-
An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: Potential therapy of SMA
-
Zhang ML, Lorson CL, Androphy EJ, Zhou J (2001) An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA. Gene Ther 8:1532-1538
-
(2001)
Gene Ther
, vol.8
, pp. 1532-1538
-
-
Zhang, M.L.1
Lorson, C.L.2
Androphy, E.J.3
Zhou, J.4
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