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Volumn 68, Issue 6, 2007, Pages 451-456

Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; SURVIVAL MOTOR NEURON PROTEIN; VALPROIC ACID;

EID: 33846820104     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000252934.70676.ab     Document Type: Article
Times cited : (33)

References (26)
  • 1
    • 0030130574 scopus 로고    scopus 로고
    • The neurobiology of childhood spinal muscular atrophy
    • Crawford TO, Pardo CA. The neurobiology of childhood spinal muscular atrophy. Neurobiol Dis 1996;3:97-110.
    • (1996) Neurobiol Dis , vol.3 , pp. 97-110
    • Crawford, T.O.1    Pardo, C.A.2
  • 2
    • 0028797783 scopus 로고
    • Identification and characterization of a spinal muscular atrophy-determining gene
    • Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-165.
    • (1995) Cell , vol.80 , pp. 155-165
    • Lefebvre, S.1    Burglen, L.2    Reboullet, S.3
  • 3
    • 0033033434 scopus 로고    scopus 로고
    • A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
    • Lorson CL, Hahnen E, Androphy EJ, et al. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci USA 1999;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
  • 4
    • 29244490598 scopus 로고    scopus 로고
    • Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2
    • Cartegni L, Hastings ML, Calarco JA, et al. Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. Am J Hum Genet 2006;78:63-77.
    • (2006) Am J Hum Genet , vol.78 , pp. 63-77
    • Cartegni, L.1    Hastings, M.L.2    Calarco, J.A.3
  • 5
    • 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. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat 2000;15:228-237.
    • (2000) Hum Mutat , vol.15 , pp. 228-237
    • Wirth, B.1
  • 6
    • 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, et al. 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 2002;70:358-368.
    • (2002) Am J Hum Genet , vol.70 , pp. 358-368
    • Feldkotter, M.1    Schwarzer, V.2    Wirth, R.3
  • 7
    • 18244407748 scopus 로고    scopus 로고
    • Natural history of denervation in SMA: Relation to age, SMN2 copy number and function
    • Swoboda KJ, Prior TW, Scott CB, et al. Natural history of denervation in SMA: relation to age, SMN2 copy number and function Ann Neurol 2005;57:704-712.
    • (2005) Ann Neurol , vol.57 , pp. 704-712
    • Swoboda, K.J.1    Prior, T.W.2    Scott, C.B.3
  • 8
    • 0034639645 scopus 로고    scopus 로고
    • 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, 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.
    • (2000) Hum Mol Genet , vol.9 , pp. 333-339
    • Monani, U.R.1    Sendtner, M.2    Coovert, D.D.3
  • 9
    • 0034701295 scopus 로고    scopus 로고
    • Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy
    • Frugier T, Tiziano FD, Cifuentes-Diaz C, et al. Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy. Hum Mol Genet 2000;9:849-858.
    • (2000) Hum Mol Genet , vol.9 , pp. 849-858
    • Frugier, T.1    Tiziano, F.D.2    Cifuentes-Diaz, C.3
  • 10
    • 0242290062 scopus 로고    scopus 로고
    • Valproic acid increases SMN levels in spinal muscular atrophy patient cells
    • Sumner CJ, Huynh TN, Markowitz JA, et al. Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Ann Neurol 2003;54:647-654.
    • (2003) Ann Neurol , vol.54 , pp. 647-654
    • Sumner, C.J.1    Huynh, T.N.2    Markowitz, J.A.3
  • 11
    • 10744229981 scopus 로고    scopus 로고
    • Phenylbutyrate increases SMN expression in vitro: Relevance for treatment of spinal muscular atrophy
    • Andreassi C, Angelozzi C, Tiziano FD, et al. Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. Eur J Hum Genet 2004;12:59-65.
    • (2004) Eur J Hum Genet , vol.12 , pp. 59-65
    • Andreassi, C.1    Angelozzi, C.2    Tiziano, F.D.3
  • 12
    • 13544258982 scopus 로고    scopus 로고
    • Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients
    • Brahe C, Vitali T, Tiziano FD, et al. Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients. Eur J Hum Genet 2005;13:256-259.
    • (2005) Eur J Hum Genet , vol.13 , pp. 256-259
    • Brahe, C.1    Vitali, T.2    Tiziano, F.D.3
  • 13
    • 0141506887 scopus 로고    scopus 로고
    • 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, et al. Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy. Hum Mol Genet 2003;12:2481-2489.
    • (2003) Hum Mol Genet , vol.12 , pp. 2481-2489
    • Brichta, L.1    Hofmann, Y.2    Hahnen, E.3
  • 14
    • 0035859952 scopus 로고    scopus 로고
    • Treatment of spinal muscular atrophy by sodium butyrate
    • Chang JG, Hsieh-Li HM, Jong YJ, et al. Treatment of spinal muscular atrophy by sodium butyrate. Proc Natl Acad Sci USA 2001;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
  • 15
    • 0030985898 scopus 로고    scopus 로고
    • Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number
    • McAndrew PE, Parsons DW, Simard LR, et al. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet 1997;60:1411-1422.
    • (1997) Am J Hum Genet , vol.60 , pp. 1411-1422
    • McAndrew, P.E.1    Parsons, D.W.2    Simard, L.R.3
  • 16
    • 0035710746 scopus 로고    scopus 로고
    • Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method
    • Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 2001;25:402-408.
    • (2001) Methods , vol.25 , pp. 402-408
    • Livak, K.J.1    Schmittgen, T.D.2
  • 17
    • 1442300774 scopus 로고    scopus 로고
    • Valproic acid blood genomic expression patterns in children with epilepsy - a pilot study
    • Tang Y, Glauser TA, Gilbert DL, et al. Valproic acid blood genomic expression patterns in children with epilepsy - a pilot study. Acta Neurol Scand 2004;109:159-168.
    • (2004) Acta Neurol Scand , vol.109 , pp. 159-168
    • Tang, Y.1    Glauser, T.A.2    Gilbert, D.L.3
  • 18
    • 33646121056 scopus 로고    scopus 로고
    • SMN mRNA and protein levels in peripheral blood: Biomarkers for SMA clinical trials
    • Sumner CJ, Kolb SJ, Harmison GG, et al. SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials. Neurology 2006;66:1067-1073.
    • (2006) Neurology , vol.66 , pp. 1067-1073
    • Sumner, C.J.1    Kolb, S.J.2    Harmison, G.G.3
  • 19
    • 0026271910 scopus 로고    scopus 로고
    • Dubowitz V. Chaos in classification of the spinal muscular atrophies of childhood. Neuromuscul Disord 1991;1:77-80.
    • Dubowitz V. Chaos in classification of the spinal muscular atrophies of childhood. Neuromuscul Disord 1991;1:77-80.
  • 20
    • 20144385587 scopus 로고    scopus 로고
    • 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, et al. 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 2005;14:845-857.
    • (2005) Hum Mol Genet , vol.14 , pp. 845-857
    • TT, L.1    Pham, L.T.2    Butchbach, M.E.3
  • 21
    • 0030818315 scopus 로고    scopus 로고
    • Genomic variation and gene conversion in spinal muscular atrophy: Implications for disease process and clinical phenotype
    • Campbell L, Potter A, Ignatius J, et al. Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. Am J Hum Genet 1997;61:40-50.
    • (1997) Am J Hum Genet , vol.61 , pp. 40-50
    • Campbell, L.1    Potter, A.2    Ignatius, J.3
  • 22
    • 0042202619 scopus 로고    scopus 로고
    • Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization
    • Zhang HL, Pan F, Hong D, et al. Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization. J Neurosci 2003;23:6627-6637.
    • (2003) J Neurosci , vol.23 , pp. 6627-6637
    • Zhang, H.L.1    Pan, F.2    Hong, D.3
  • 23
    • 13844309711 scopus 로고    scopus 로고
    • Clinical development of histone deacetylase inhibitors as anticancer agents
    • Drummond DC, Noble CO, Kirpotin DB, et al. Clinical development of histone deacetylase inhibitors as anticancer agents. Annu Rev Pharmacol Toxicol 2005;45:495-528.
    • (2005) Annu Rev Pharmacol Toxicol , vol.45 , pp. 495-528
    • Drummond, D.C.1    Noble, C.O.2    Kirpotin, D.B.3
  • 24
    • 0042905956 scopus 로고    scopus 로고
    • Gene expression profiling of multiple histone deacetylase (HDAC) inhibitors: Defining a common gene set produced by HDAC inhibition in T24 and MDA carcinoma cell lines
    • Glaser KB, Staver MJ, Waring JF, et al. Gene expression profiling of multiple histone deacetylase (HDAC) inhibitors: defining a common gene set produced by HDAC inhibition in T24 and MDA carcinoma cell lines. Mol Cancer Ther 2003;2:151-163.
    • (2003) Mol Cancer Ther , vol.2 , pp. 151-163
    • Glaser, K.B.1    Staver, M.J.2    Waring, J.F.3
  • 25
    • 14844353574 scopus 로고    scopus 로고
    • Identification and functional significance of genes regulated by structurally different histone deacetylase inhibitors
    • Peart MJ, Smyth GK, van Laar RK, et al. Identification and functional significance of genes regulated by structurally different histone deacetylase inhibitors. Proc Natl Acad Sci USA 2005;102:3697-3702.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 3697-3702
    • Peart, M.J.1    Smyth, G.K.2    van Laar, R.K.3
  • 26
    • 23344448837 scopus 로고    scopus 로고
    • Genome-wide expression profiling of human blood reveals biomarkers for Huntington's disease
    • Borovecki F, Lovrecic L, Zhou J, et al. Genome-wide expression profiling of human blood reveals biomarkers for Huntington's disease. Proc Natl Acad Sci USA 2005;102:11023-11028.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 11023-11028
    • Borovecki, F.1    Lovrecic, L.2    Zhou, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.