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Volumn 12, Issue 19, 2003, Pages 2481-2489

Valproic acid increases the SMN2 protein level: A well-known drug as a potential therapy for spinal muscular atrophy

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; MESSENGER RNA; PROTEIN SMN2; SURVIVAL MOTOR NEURON 2 PROTEIN; UNCLASSIFIED DRUG; VALPROIC ACID;

EID: 0141506887     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg256     Document Type: Article
Times cited : (333)

References (39)
  • 1
    • 0018238065 scopus 로고
    • Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy
    • Pearn, J. (1978) Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J. Med. Genet., 15, 409-413.
    • (1978) J. Med. Genet. , vol.15 , pp. 409-413
    • Pearn, J.1
  • 2
    • 0036154959 scopus 로고    scopus 로고
    • 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, T.F. and 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
  • 4
    • 0034007548 scopus 로고    scopus 로고
    • 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
  • 5
    • 0034869225 scopus 로고    scopus 로고
    • Best practice guidelines for molecular analysis in spinal muscular atrophy
    • Scheffer, H., Cobben, J.M., Matthijs, G. and Wirth, B. (2001) Best practice guidelines for molecular analysis in spinal muscular atrophy. Eur. J. Hum. Genet., 9, 484-491.
    • (2001) Eur. J. Hum. Genet. , vol.9 , pp. 484-491
    • Scheffer, H.1    Cobben, J.M.2    Matthijs, G.3    Wirth, B.4
  • 6
    • 0027057672 scopus 로고
    • International SMA consortium meeting (26-28 June 1992, Bonn, Germany)
    • Munsat, T.L. and Davies, K.E. (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
  • 7
    • 0030931727 scopus 로고    scopus 로고
    • 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. and 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
  • 8
    • 0032567036 scopus 로고    scopus 로고
    • A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing
    • Pellizzoni, L., Kataoka, N., Charroux, B. and 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
  • 9
    • 0036154096 scopus 로고    scopus 로고
    • 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, A.K., Ohndorf, U.M., Steegborn, C., Jablonka, S. and 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
  • 10
    • 0030931720 scopus 로고    scopus 로고
    • Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos
    • Schrank, B., Gotz, R., Gunnersen, J.M., Ure, J.M., Toyka, K.V, Smith, A.G. and Sendtner, M. (1997) Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos. Proc. Natl Acad. Sci. USA, 94, 9920-9925.
    • (1997) Proc. Natl. Acad. Sci. USA , vol.94 , pp. 9920-9925
    • Schrank, B.1    Gotz, R.2    Gunnersen, J.M.3    Ure, J.M.4    Toyka, K.V.5    Smith, A.G.6    Sendtner, M.7
  • 11
    • 0033033434 scopus 로고    scopus 로고
    • 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. (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
  • 12
    • 0036544654 scopus 로고    scopus 로고
    • 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. (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
  • 13
    • 0041665176 scopus 로고    scopus 로고
    • A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
    • Kashima, T. and Manley, J.L. (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
  • 15
    • 0030863569 scopus 로고    scopus 로고
    • When is a deletion not a deletion? When it is converted
    • Burghes, A.H. (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.61 , pp. 9-15
    • Burghes, A.H.1
  • 16
    • 0141834020 scopus 로고    scopus 로고
    • Evidence for a modifying pathway in SMA discordant families; Reduced SMN level decreases the amount of its interacting partners and Htra2-beta1
    • in press
    • Helmken, C., Hofmann, C., Schoenen, F., Oprea, G., Raschke, H., Rudnik-Schöneborn, S., Zerres, K. and 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., in press.
    • (2003) Hum. Genet.
    • Helmken, C.1    Hofmann, C.2    Schoenen, F.3    Oprea, G.4    Raschke, H.5    Rudnik-Schöneborn, S.6    Zerres, K.7    Wirth, B.8
  • 17
    • 0034662922 scopus 로고    scopus 로고
    • Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)
    • Hofmann, Y., Lorson, C.L., Stamm, S., Androphy, E.J. and 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
  • 18
    • 0037101846 scopus 로고    scopus 로고
    • hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1
    • Hofmann, Y. and 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
  • 19
    • 0036501065 scopus 로고    scopus 로고
    • SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2beta1
    • Young, P.J., DiDonato, C.J., Hu, D., Kothary, R., Androphy, E.J. and Lorson, C.L. (2002) SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2beta1. 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
  • 22
    • 0035158371 scopus 로고    scopus 로고
    • An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: Potential therapy of SMA
    • Zhang, M.L., Lorson, C.L., Androphy, E.J. and 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
  • 25
    • 0036721055 scopus 로고    scopus 로고
    • Anti-tumor mechanisms of valproate: A novel role for an old drug
    • Blaheta, R.A. and Cinatl, J., Jr (2002) Anti-tumor mechanisms of valproate: a novel role for an old drug. Med. Res. Rev., 22, 492-511.
    • (2002) Med. Res. Rev. , vol.22 , pp. 492-511
    • Blaheta, R.A.1    Cinatl J., Jr.2
  • 26
    • 0030434075 scopus 로고    scopus 로고
    • Valproic acid-induced changes in gene expression during neurulation in a mouse model
    • Wlodarczyk, B.C., Craig, J.C., Bennett, G.D., Calvin, J.A. and Finnell, R.H. (1996) Valproic acid-induced changes in gene expression during neurulation in a mouse model. Teratology, 54, 284-297.
    • (1996) Teratology , vol.54 , pp. 284-297
    • Wlodarczyk, B.C.1    Craig, J.C.2    Bennett, G.D.3    Calvin, J.A.4    Finnell, R.H.5
  • 27
    • 0038043245 scopus 로고    scopus 로고
    • Sp family of transcription factors is involved in valproic acid-induced expression of Galpha i2
    • Arinze, I.J. and Kawai, Y. (2003) Sp family of transcription factors is involved in valproic acid-induced expression of Galpha i2. J. Biol. Chem., 278, 17785-17791.
    • (2003) J. Biol. Chem. , vol.278 , pp. 17785-17791
    • Arinze, I.J.1    Kawai, Y.2
  • 28
    • 0033362099 scopus 로고    scopus 로고
    • The promoters of the survival motor neuron gene (SMN) and its copy (SMNc) share common regulatory elements
    • Echaniz-Laguna, A., Miniou, P., Bartholdi, D. and Melki, J. (1999) The promoters of the survival motor neuron gene (SMN) and its copy (SMNc) share common regulatory elements. Am. J. Hum. Genet., 64, 1365-1370.
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 1365-1370
    • Echaniz-Laguna, A.1    Miniou, P.2    Bartholdi, D.3    Melki, J.4
  • 29
    • 0025805120 scopus 로고
    • A simple method for organotypic cultures of nervous tissue
    • Stoppini, L., Buchs, P.A. and Muller, D. (1991) A simple method for organotypic cultures of nervous tissue. J. Neurosci. Methods, 37, 173-182.
    • (1991) J. Neurosci. Methods , vol.37 , pp. 173-182
    • Stoppini, L.1    Buchs, P.A.2    Muller, D.3
  • 32
    • 0025827397 scopus 로고
    • Comparison of valproate concentrations in human plasma, CSF and brain tissue after administration of different formulations of valproate or valpromide
    • Wieser, H.G. (1991) Comparison of valproate concentrations in human plasma, CSF and brain tissue after administration of different formulations of valproate or valpromide. Epilepsy Res., 9, 154-159.
    • (1991) Epilepsy Res. , vol.9 , pp. 154-159
    • Wieser, H.G.1
  • 33
    • 0030916336 scopus 로고    scopus 로고
    • What's up and down with histone deacetylation and transcription?
    • Pazin, M.J. and Kadonaga, J.T. (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
  • 34
    • 0034257051 scopus 로고    scopus 로고
    • Mechanisms of action of valproate: A cornmentatory
    • Johannessen, C.U. (2000) Mechanisms of action of valproate: a cornmentatory Neurochem. Int., 37, 103-110.
    • (2000) Neurochem. Int. , vol.37 , pp. 103-110
    • Johannessen, C.U.1
  • 35
    • 0026486992 scopus 로고
    • Pregnancy and the risk of teratogenicity
    • Lindhout, D. and Omtzigt, J.G. (1992) Pregnancy and the risk of teratogenicity. Epilepsia, 33 (suppl. 4), S41-48.
    • (1992) Epilepsia , vol.33 , Issue.SUPPL. 4
    • Lindhout, D.1    Omtzigt, J.G.2
  • 36
    • 0030850812 scopus 로고    scopus 로고
    • The splicing factor SRp20 modifies splicing of its own mRNA and ASF/SF2 antagonizes this regulation
    • Jumaa, H. and Nielsen, P.J. (1997) The splicing factor SRp20 modifies splicing of its own mRNA and ASF/SF2 antagonizes this regulation. EMBO J., 16, 5077-5085.
    • (1997) EMBO J. , vol.16 , pp. 5077-5085
    • Jumaa, H.1    Nielsen, P.J.2
  • 37
    • 17144453865 scopus 로고    scopus 로고
    • Human transformer-2-beta gene (SFRS10): Complete nucleotide sequence, chromosomal localization, and generation of a tissue-specific isoform
    • Nayler, O., Cap, C. and Stamm, S. (1998) Human transformer-2-beta gene (SFRS10): complete nucleotide sequence, chromosomal localization, and generation of a tissue-specific isoform. Genomics, 53, 191-202.
    • (1998) Genomics , vol.53 , pp. 191-202
    • Nayler, O.1    Cap, C.2    Stamm, S.3
  • 38
    • 1842376906 scopus 로고    scopus 로고
    • The dynamics of a pre-mRNA splicing factor in living cells
    • Misteli, T., Caceres, J.F. and Spector, D.L. (1997) The dynamics of a pre-mRNA splicing factor in living cells. Nature, 387, 523-527.
    • (1997) Nature , vol.387 , pp. 523-527
    • Misteli, T.1    Caceres, J.F.2    Spector, D.L.3
  • 39
    • 0037313165 scopus 로고    scopus 로고
    • Correction of disease-associated exon skipping by synthetic exon-specific activators
    • Cartegni, L. and Krainer, A.R. (2003) Correction of disease-associated exon skipping by synthetic exon-specific activators. Nat. Struct. Biol., 10, 120-125.
    • (2003) Nat. Struct. Biol. , vol.10 , pp. 120-125
    • Cartegni, L.1    Krainer, A.R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.