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Volumn 22, Issue 8, 2007, Pages 979-989

Molecular mechanisms of spinal muscular atrophy

Author keywords

Motor neuron; Spinal muscular atrophy; Survival motor neuron

Indexed keywords

ALIPHATIC CARBOXYLIC ACID; BUTYRIC ACID; CIS ACTING ELEMENT; HISTONE DEACETYLASE INHIBITOR; MESSENGER RNA; SURVIVAL MOTOR NEURON PROTEIN; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2; TRANS ACTING FACTOR; TRICHOSTATIN A; UNCLASSIFIED DRUG; VALPROIC ACID;

EID: 34548145188     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073807305787     Document Type: Article
Times cited : (62)

References (74)
  • 1
    • 0025260440 scopus 로고
    • Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3
    • Brzustowicz LM, Lehner T., Castilla LH, et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature. 1990;344:540-541.
    • (1990) Nature , vol.344 , pp. 540-541
    • Brzustowicz, L.M.1    Lehner, T.2    Castilla, L.H.3
  • 2
    • 0025299356 scopus 로고
    • Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators
    • Melki J., Sheth P., Abdelhak S., et al. Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators. Lancet. 1990;336:271-273.
    • (1990) Lancet , vol.336 , pp. 271-273
    • Melki, J.1    Sheth, P.2    Abdelhak, S.3
  • 3
    • 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
  • 4
    • 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, 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. 1999;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
  • 5
    • 0032799998 scopus 로고    scopus 로고
    • A single nucleotide difference that alters splicing patterns distinguishes the spinal muscular atrophy gene SMN1 from the copy gene SMN2
    • Monani UR, Lorson CL, Parsons DW, et al. A single nucleotide difference that alters splicing patterns distinguishes the spinal muscular atrophy gene SMN1 from the copy gene SMN2. Hum Mol Genet. 1999;8:1177-1183.
    • (1999) Hum Mol Genet. , vol.8 , pp. 1177-1183
    • Monani, U.R.1    Lorson, C.L.2    Parsons, D.W.3
  • 6
    • 0030981541 scopus 로고    scopus 로고
    • Correlation between severity and SMN protein level in spinal muscular atrophy
    • Lefebvre S., Burlet P., Liu Q., et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet. 1997;16:265-269.
    • (1997) Nat Genet. , vol.16 , pp. 265-269
    • Lefebvre, S.1    Burlet, P.2    Liu, Q.3
  • 7
    • 8544283791 scopus 로고    scopus 로고
    • The survival motor neuron protein in spinal muscular atrophy
    • Coovert DD, Le TT, McAndrew PE, et al. The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet. 1997;6:1205-1214.
    • (1997) Hum Mol Genet. , vol.6 , pp. 1205-1214
    • Coovert, D.D.1    Le, T.T.2    McAndrew, P.E.3
  • 8
    • 0031766532 scopus 로고    scopus 로고
    • Differential SMN2 expression associated with spinal muscular atrophy severity
    • Gavrilov DK, Shi X., Das K., et al. Differential SMN2 expression associated with spinal muscular atrophy severity. Nat Genet. 1998;20:230-231.
    • (1998) Nat Genet. , vol.20 , pp. 230-231
    • Gavrilov, D.K.1    Shi, X.2    Das, K.3
  • 9
    • 15244356829 scopus 로고    scopus 로고
    • Implication of fetal SMN2 expression in type I spinal muscular atrophy pathogenesis: Protection or pathological gain of function?
    • Soler-Botija C., Cusco I., Caselles L., et al. Implication of fetal SMN2 expression in type I spinal muscular atrophy pathogenesis: Protection or pathological gain of function? J Neuropathol Exp Neurol. 2005;64:215-223.
    • (2005) J Neuropathol Exp Neurol. , vol.64 , pp. 215-223
    • Soler-Botija, C.1    Cusco, I.2    Caselles, L.3
  • 10
    • 0032471510 scopus 로고    scopus 로고
    • Intragenic telSMN mutations: Frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number
    • Parsons DW, McAndrew PE, Iannaccone ST, et al. Intragenic telSMN mutations: Frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. Am J Hum Genet. 1998;63:1712-1723.
    • (1998) Am J Hum Genet. , vol.63 , pp. 1712-1723
    • Parsons, D.W.1    McAndrew, P.E.2    Iannaccone, S.T.3
  • 11
    • 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
  • 12
    • 4744368810 scopus 로고    scopus 로고
    • Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2
    • Prior TW, Swoboda KJ, Scott HD, Hejmanowski AQ Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. Am J Med Genet A. 2004;130:307-310.
    • (2004) Am J Med Genet A , vol.130 , pp. 307-310
    • Prior, T.W.1    Swoboda, K.J.2    Scott, H.D.3    Hejmanowski, A.Q.4
  • 13
    • 33645743043 scopus 로고    scopus 로고
    • Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number
    • Wirth B., Brichta L., Schrank B., et al. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet. 2006;119:422-428.
    • (2006) Hum Genet. , vol.119 , pp. 422-428
    • Wirth, B.1    Brichta, L.2    Schrank, B.3
  • 14
    • 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
  • 15
    • 33646121056 scopus 로고    scopus 로고
    • SMN mRNA and protein levels in peripheral blood: Biomarkers for spinal muscular atrophy clinical trials
    • Epub 2006 Feb 15
    • Sumner C., Kolb SJ, Harmison GG, et al. SMN mRNA and protein levels in peripheral blood: Biomarkers for spinal muscular atrophy clinical trials. Neurology. 2006;66:1067-1073. Epub 2006 Feb 15.
    • (2006) Neurology , vol.66 , pp. 1067-1073
    • Sumner, C.1    Kolb, S.J.2    Harmison, G.G.3
  • 16
    • 33846820104 scopus 로고    scopus 로고
    • Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with spinal muscular atrophy
    • Simard LR, Belanger MC, Morissette S., et al. Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with spinal muscular atrophy. Neurology. 2007;68:451-456.
    • (2007) Neurology , vol.68 , pp. 451-456
    • Simard, L.R.1    Belanger, M.C.2    Morissette, S.3
  • 17
    • 0029790284 scopus 로고    scopus 로고
    • Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy
    • Parano E., Pavone L., Falsaperla R., et al. Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy. Ann Neurol. 1996;40:247-251.
    • (1996) Ann Neurol. , vol.40 , pp. 247-251
    • Parano, E.1    Pavone, L.2    Falsaperla, R.3
  • 18
    • 0033983258 scopus 로고    scopus 로고
    • An exonic enhancer is required for inclusion of an essential exon in the spinal muscular atrophy-determining gene SMN
    • Lorson CL, Androphy EJ An exonic enhancer is required for inclusion of an essential exon in the spinal muscular atrophy-determining gene SMN. Hum Mol Genet. 2000;9:259-265.
    • (2000) Hum Mol Genet. , vol.9 , pp. 259-265
    • Lorson, C.L.1    Androphy, E.J.2
  • 19
    • 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., Krainer AR Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet. 2002;30:377-384.
    • (2002) Nat Genet. , vol.30 , pp. 377-384
    • Cartegni, L.1    Krainer, A.R.2
  • 20
    • 0041665176 scopus 로고    scopus 로고
    • A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
    • Kashima T., Manley JL A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat Genet. 2003;34:460-463.
    • (2003) Nat Genet. , vol.34 , pp. 460-463
    • Kashima, T.1    Manley, J.L.2
  • 21
    • 0037313165 scopus 로고    scopus 로고
    • Correction of disease-associated exon skipping by synthetic exon-specific activators
    • Cartegni L., Krainer AR Correction of disease-associated exon skipping by synthetic exon-specific activators. Nat Struct Biol. 2003;10:120-125.
    • (2003) Nat Struct Biol. , vol.10 , pp. 120-125
    • Cartegni, L.1    Krainer, A.R.2
  • 22
    • 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
  • 23
    • 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 CL, Stamm S., et al. 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 U S A. 2000;97:9618-9623.
    • (2000) Proc Natl Acad Sci U S A , vol.97 , pp. 9618-9623
    • Hofmann, Y.1    Lorson, C.L.2    Stamm, S.3
  • 24
    • 0037101846 scopus 로고    scopus 로고
    • hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1
    • Hofmann Y., Wirth B. hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1. Hum Mol Genet. 2002;11:2037-2049.
    • (2002) Hum Mol Genet. , vol.11 , pp. 2037-2049
    • Hofmann, Y.1    Wirth, B.2
  • 25
    • 0036501065 scopus 로고    scopus 로고
    • 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., et al. SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1. Hum Mol Genet. 2002;11:577-587.
    • (2002) Hum Mol Genet. , vol.11 , pp. 577-587
    • Young, P.J.1    DiDonato, C.J.2    Hu, D.3
  • 26
    • 0037189483 scopus 로고    scopus 로고
    • Identification of a cisacting element for the regulation of SMN exon 7 splicing
    • Miyajima H., Miyaso H., Okumura M., et al. Identification of a cisacting element for the regulation of SMN exon 7 splicing. J Biol Chem. 2002;277:23271-23277.
    • (2002) J Biol Chem. , vol.277 , pp. 23271-23277
    • Miyajima, H.1    Miyaso, H.2    Okumura, M.3
  • 27
    • 0037507250 scopus 로고    scopus 로고
    • An intronic splicing enhancer element in survival motor neuron (SMN) pre-mRNA
    • Miyaso H., Okumura M., Kondo S., et al. An intronic splicing enhancer element in survival motor neuron (SMN) pre-mRNA. J Biol Chem. 2003;278:15825-15831.
    • (2003) J Biol Chem. , vol.278 , pp. 15825-15831
    • Miyaso, H.1    Okumura, M.2    Kondo, S.3
  • 28
    • 3342938228 scopus 로고    scopus 로고
    • In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes
    • Singh NN, Androphy EJ, Singh RN In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes. RNA. 2004;10:1291-1305.
    • (2004) RNA , vol.10 , pp. 1291-1305
    • Singh, N.N.1    Androphy, E.J.2    Singh, R.N.3
  • 29
    • 32044445564 scopus 로고    scopus 로고
    • Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron
    • Singh NK, Singh NN, Androphy EJ, Singh RN Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron. Mol Cell Biol. 2006;26:1333-1346.
    • (2006) Mol Cell Biol. , vol.26 , pp. 1333-1346
    • Singh, N.K.1    Singh, N.N.2    Androphy, E.J.3    Singh, R.N.4
  • 30
    • 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., Dreyfuss G. The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. Cell. 1997;90:1013-1021.
    • (1997) Cell , vol.90 , pp. 1013-1021
    • Liu, Q.1    Fischer, U.2    Wang, F.3    Dreyfuss, G.4
  • 31
    • 0032952610 scopus 로고    scopus 로고
    • 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., et al. SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis. Eur J Hum Genet. 1999;7:301-309.
    • (1999) Eur J Hum Genet. , vol.7 , pp. 301-309
    • Patrizi, A.L.1    Tiziano, F.2    Zappata, S.3
  • 32
    • 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
  • 33
    • 33748186105 scopus 로고    scopus 로고
    • 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., et al. Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons. J Neurosci. 2006;26:8622-8632.
    • (2006) J Neurosci. , vol.26 , pp. 8622-8632
    • Zhang, H.1    Xing, L.2    Rossoll, W.3
  • 34
    • 0345599021 scopus 로고    scopus 로고
    • 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., et al. 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. 2003;163:801-812.
    • (2003) J Cell Biol. , vol.163 , pp. 801-812
    • Rossoll, W.1    Jablonka, S.2    Andreassi, C.3
  • 35
    • 0033519596 scopus 로고    scopus 로고
    • Localization of survival motor neuron protein in human apoptotic-like and regenerating muscle fibers, and neuromuscular junctions
    • Broccolini A., Engel WK, Askanas V. Localization of survival motor neuron protein in human apoptotic-like and regenerating muscle fibers, and neuromuscular junctions. Neuroreport. 1999;10:1637-1641.
    • (1999) Neuroreport , vol.10 , pp. 1637-1641
    • Broccolini, A.1    Engel, W.K.2    Askanas, V.3
  • 36
    • 0032457032 scopus 로고    scopus 로고
    • Survival motor neuron (SMN) protein in rat is expressed as different molecular forms and is developmentally regulated
    • La Bella V., Cisterni C., Salaun D., Pettmann B. Survival motor neuron (SMN) protein in rat is expressed as different molecular forms and is developmentally regulated. Eur J Neurosci. 1998;10:2913-2923.
    • (1998) Eur J Neurosci. , vol.10 , pp. 2913-2923
    • La Bella, V.1    Cisterni, C.2    Salaun, D.3    Pettmann, B.4
  • 37
    • 0035282740 scopus 로고    scopus 로고
    • Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy
    • Jablonka S., Bandilla M., Wiese S., et al. Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy. Hum Mol Genet. 2001;10:497-505.
    • (2001) Hum Mol Genet. , vol.10 , pp. 497-505
    • Jablonka, S.1    Bandilla, M.2    Wiese, S.3
  • 38
    • 18144400082 scopus 로고    scopus 로고
    • The role of histone acetylation in SMN gene expression
    • Kernochan LE, Russo ML, Woodling NS, et al. The role of histone acetylation in SMN gene expression. Hum Mol Genet. 2005;14:1171-1182.
    • (2005) Hum Mol Genet. , vol.14 , pp. 1171-1182
    • Kernochan, L.E.1    Russo, M.L.2    Woodling, N.S.3
  • 40
    • 34047100275 scopus 로고    scopus 로고
    • A comprehensive interaction map of the human SMN-complex
    • Epub Dec 18, 2006
    • Otter S., Grimmler M., Neuenkirchen N., Chari A., et al. A comprehensive interaction map of the human SMN-complex. J Biol Chem. 2007;282;5825-5833. Epub Dec 18, 2006.
    • (2007) J Biol Chem. , vol.282 , pp. 5825-5833
    • Otter, S.1    Grimmler, M.2    Neuenkirchen, N.3    Chari, A.4
  • 41
    • 0031800695 scopus 로고    scopus 로고
    • SMN oligomerization defect correlates with spinal muscular atrophy severity
    • Lorson CL, Strasswimmer J., Yao JM, et al. SMN oligomerization defect correlates with spinal muscular atrophy severity. Nat Genet. 1998;19:63-66.
    • (1998) Nat Genet. , vol.19 , pp. 63-66
    • Lorson, C.L.1    Strasswimmer, J.2    Yao, J.M.3
  • 42
    • 0035809926 scopus 로고    scopus 로고
    • Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy
    • Cifuentes-Diaz C., Frugier T., Tiziano FD, et al. Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy. J Cell Biol. 2001;152:1107-1114.
    • (2001) J Cell Biol. , vol.152 , pp. 1107-1114
    • Cifuentes-Diaz, C.1    Frugier, T.2    Tiziano, F.D.3
  • 43
    • 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
    • Le, T.T.1    Pham, L.T.2    Butchbach, M.E.3
  • 44
    • 2142819496 scopus 로고    scopus 로고
    • Why do cells need an assembly machine for RNA-protein complexes?
    • Yong J., Wan L., Dreyfuss G. Why do cells need an assembly machine for RNA-protein complexes? Trends Cell Biol. 2004;14:226-232.
    • (2004) Trends Cell Biol. , vol.14 , pp. 226-232
    • Yong, J.1    Wan, L.2    Dreyfuss, G.3
  • 45
    • 0035370526 scopus 로고    scopus 로고
    • Spliceosomal UsnRNP biogenesis, structure and function
    • Will CL, Luhrmann R. Spliceosomal UsnRNP biogenesis, structure and function. Curr Opin Cell Biol. 2001;13:290-301.
    • (2001) Curr Opin Cell Biol. , vol.13 , pp. 290-301
    • Will, C.L.1    Luhrmann, R.2
  • 46
    • 0042887389 scopus 로고    scopus 로고
    • Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding
    • McWhorter ML, Monani UR, Burghes AH, Beattie CE Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding. J Cell Biol. 2003;162:919-931.
    • (2003) J Cell Biol. , vol.162 , pp. 919-931
    • McWhorter, M.L.1    Monani, U.R.2    Burghes, A.H.3    Beattie, C.E.4
  • 47
    • 0032718045 scopus 로고    scopus 로고
    • The Caenorhabditis elegans orthologue of the human gene responsible for spinal muscular atrophy is a maternal product critical for germline maturation and embryonic viability
    • Miguel-Aliaga I., Culetto E., Walker DS, et al. The Caenorhabditis elegans orthologue of the human gene responsible for spinal muscular atrophy is a maternal product critical for germline maturation and embryonic viability. Hum Mol Genet. 1999;8:2133-2143.
    • (1999) Hum Mol Genet. , vol.8 , pp. 2133-2143
    • Miguel-Aliaga, I.1    Culetto, E.2    Walker, D.S.3
  • 48
    • 0034624252 scopus 로고    scopus 로고
    • Disruption of SMN function by ectopic expression of the human SMN gene in Drosophila
    • Miguel-Aliaga I., Chan YB, Davies KE, van den Heuvel M. Disruption of SMN function by ectopic expression of the human SMN gene in Drosophila. FEBS Lett. 2000;486:99-102.
    • (2000) FEBS Lett. , vol.486 , pp. 99-102
    • Miguel-Aliaga, I.1    Chan, Y.B.2    Davies, K.E.3    van den Heuvel, M.4
  • 49
    • 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 JM, et al. 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 U S A. 1997;94:9920-9925.
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 9920-9925
    • Schrank, B.1    Gotz, R.2    Gunnersen, J.M.3
  • 50
    • 0033987669 scopus 로고    scopus 로고
    • A mouse model for spinal muscular atrophy
    • Hsieh-Li HM, Chang JG, Jong YJ, et al. A mouse model for spinal muscular atrophy. Nat Genet. 2000;24:66-70.
    • (2000) Nat Genet. , vol.24 , pp. 66-70
    • Hsieh-Li, H.M.1    Chang, J.G.2    Jong, Y.J.3
  • 51
    • 0037421228 scopus 로고    scopus 로고
    • A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy
    • Monani UR, Pastore MT, Gavrilina TO, et al. A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy. J Cell Biol. 2003;160:41-52.
    • (2003) J Cell Biol. , vol.160 , pp. 41-52
    • Monani, U.R.1    Pastore, M.T.2    Gavrilina, T.O.3
  • 52
    • 20744455958 scopus 로고    scopus 로고
    • The survival of motor neurons protein determines the capacity for snRNP assembly: Biochemical deficiency in spinal muscular atrophy
    • Wan L., Battle DJ, Yong J., et al. The survival of motor neurons protein determines the capacity for snRNP assembly: Biochemical deficiency in spinal muscular atrophy. Mol Cell Biol. 2005;25:5543-5551.
    • (2005) Mol Cell Biol. , vol.25 , pp. 5543-5551
    • Wan, L.1    Battle, D.J.2    Yong, J.3
  • 53
    • 25844461744 scopus 로고    scopus 로고
    • Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy
    • Winkler C., Eggert C., Gradl D., et al. Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy. Genes Dev. 2005;19:2320-2330.
    • (2005) Genes Dev. , vol.19 , pp. 2320-2330
    • Winkler, C.1    Eggert, C.2    Gradl, D.3
  • 54
    • 33751100104 scopus 로고    scopus 로고
    • Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis
    • Carrel TL, McWhorter ML, Workman E., et al. Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis. J Neurosci. 2006;26:11014-11022.
    • (2006) J Neurosci. , vol.26 , pp. 11014-11022
    • Carrel, T.L.1    McWhorter, M.L.2    Workman, E.3
  • 55
    • 77957157543 scopus 로고    scopus 로고
    • Pathology of motor neuron disorders
    • In: Shaw PJ, Strong MJ, eds. Philadelphia, PA: Butterworth Heinemann
    • Wharton, S., Ince PG Pathology of motor neuron disorders. In: Shaw PJ, Strong MJ, eds. Motor Neuron Disorders. Philadelphia, PA: Butterworth Heinemann; 2003:17-49.
    • (2003) Motor Neuron Disorders , pp. 17-49
    • Wharton, S.1    Ince, P.G.2
  • 56
    • 0025215242 scopus 로고
    • Acute infantile spinal muscular atrophy. Muscle apoptosis as a proposed pathogenetic mechanism
    • Fidzianska A., Goebel HH, Warlo I. Acute infantile spinal muscular atrophy. Muscle apoptosis as a proposed pathogenetic mechanism. Brain. 1990;113(Pt 2):433-445.
    • (1990) Brain , vol.113 , Issue.PART 2 , pp. 433-445
    • Fidzianska, A.1    Goebel, H.H.2    Warlo, I.3
  • 57
    • 0028844128 scopus 로고
    • Expression of developmentally regulated cytoskeleton and cell surface proteins in childhood spinal muscular atrophies
    • Soubrouillard C., Pellissier JF, Lepidi H., et al. Expression of developmentally regulated cytoskeleton and cell surface proteins in childhood spinal muscular atrophies. J Neurol Sci. 1995;133:155-163.
    • (1995) J Neurol Sci. , vol.133 , pp. 155-163
    • Soubrouillard, C.1    Pellissier, J.F.2    Lepidi, H.3
  • 58
    • 4944242332 scopus 로고    scopus 로고
    • Reduced expression of nicotinic AChRs in myotubes from spinal muscular atrophy I patients
    • Arnold AS, Gueye M., Guettier-Sigrist S., et al. Reduced expression of nicotinic AChRs in myotubes from spinal muscular atrophy I patients. Lab Invest. 2004;84:1271-1278.
    • (2004) Lab Invest. , vol.84 , pp. 1271-1278
    • Arnold, A.S.1    Gueye, M.2    Guettier-Sigrist, S.3
  • 59
    • 27344454223 scopus 로고    scopus 로고
    • Hypomorphic Smn knockdown C2C12 myoblasts reveal intrinsic defects in myoblast fusion and myotube morphology
    • Shafey D., Cote PD, Kothary R. Hypomorphic Smn knockdown C2C12 myoblasts reveal intrinsic defects in myoblast fusion and myotube morphology. Exp Cell Res. 2005;311:49-61.
    • (2005) Exp Cell Res. , vol.311 , pp. 49-61
    • Shafey, D.1    Cote, P.D.2    Kothary, R.3
  • 60
    • 0028947081 scopus 로고
    • Constitutive muscular abnormalities in culture in spinal muscular atrophy
    • Braun S., Croizat B., Lagrange MC, et al. Constitutive muscular abnormalities in culture in spinal muscular atrophy. Lancet. 1995;345:694-695.
    • (1995) Lancet , vol.345 , pp. 694-695
    • Braun, S.1    Croizat, B.2    Lagrange, M.C.3
  • 61
    • 0038273864 scopus 로고    scopus 로고
    • Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle
    • Nicole S., Desforges B., Millet G., et al. Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle. J Cell Biol. 2003;161:571-582.
    • (2003) J Cell Biol. , vol.161 , pp. 571-582
    • Nicole, S.1    Desforges, B.2    Millet, G.3
  • 62
    • 0038039295 scopus 로고    scopus 로고
    • Neuromuscular defects in a Drosophila survival motor neuron gene mutant
    • Chan YB, Miguel-Aliaga I., Franks C., et al. Neuromuscular defects in a Drosophila survival motor neuron gene mutant. Hum Mol Genet. 2003;12:1367-1376.
    • (2003) Hum Mol Genet. , vol.12 , pp. 1367-1376
    • Chan, Y.B.1    Miguel-Aliaga, I.2    Franks, C.3
  • 63
    • 0029024336 scopus 로고
    • Muscle-derived neurotrophin-4 as an activity-dependent trophic signal for adult motor neurons
    • Funakoshi H., Belluardo N., Arenas E., et al. Muscle-derived neurotrophin-4 as an activity-dependent trophic signal for adult motor neurons. Science. 1995;268:1495-1499.
    • (1995) Science , vol.268 , pp. 1495-1499
    • Funakoshi, H.1    Belluardo, N.2    Arenas, E.3
  • 64
    • 33646135323 scopus 로고    scopus 로고
    • Therapeutics development for spinal muscular atrophy
    • Sumner CJ Therapeutics development for spinal muscular atrophy. NeuroRx. 2006;3:235-245.
    • (2006) NeuroRx. , vol.3 , pp. 235-245
    • Sumner, C.J.1
  • 65
    • 30344477367 scopus 로고    scopus 로고
    • Histone deacetylase inhibitors and the promise of epigenetic (and more) treatments for cancer
    • Minucci S., Pelicci PG Histone deacetylase inhibitors and the promise of epigenetic (and more) treatments for cancer. Nat Rev Cancer. 2006;6:38-51.
    • (2006) Nat Rev Cancer. , vol.6 , pp. 38-51
    • Minucci, S.1    Pelicci, P.G.2
  • 66
    • 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 U S A. 2001;98:9808-9813.
    • (2001) Proc Natl Acad Sci U S A , vol.98 , pp. 9808-9813
    • Chang, J.G.1    Hsieh-Li, H.M.2    Jong, Y.J.3
  • 67
    • 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
  • 68
    • 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
  • 69
    • 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
  • 70
    • 33847358736 scopus 로고    scopus 로고
    • Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy
    • Avila A., Burnett BG, Taye AA, et al. Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J Clin Invest. 2007;117:659-671.
    • (2007) J Clin Invest. , vol.117 , pp. 659-671
    • Avila, A.1    Burnett, B.G.2    Taye, A.A.3
  • 71
    • 27644537716 scopus 로고    scopus 로고
    • Challenges and opportunities in clinical trials for spinal muscular atrophy
    • Hirtz D., Iannaccone S., Heemskerk J., et al. Challenges and opportunities in clinical trials for spinal muscular atrophy. Neurology. 2005;65:1352-1357.
    • (2005) Neurology , vol.65 , pp. 1352-1357
    • Hirtz, D.1    Iannaccone, S.2    Heemskerk, J.3
  • 72
    • 33747083488 scopus 로고    scopus 로고
    • Valproate may improve strength and function in patients with type III/IV spinal muscle atrophy
    • Weihl CC, Connolly AM, Pestronk A. Valproate may improve strength and function in patients with type III/IV spinal muscle atrophy. Neurology. 2006;67:500-501.
    • (2006) Neurology , vol.67 , pp. 500-501
    • Weihl, C.C.1    Connolly, A.M.2    Pestronk, A.3
  • 73
    • 33846114574 scopus 로고    scopus 로고
    • Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy
    • Mercuri E., Bertini E., Messina S., et al. Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. Neurology. 2007;68:51-55.
    • (2007) Neurology , vol.68 , pp. 51-55
    • Mercuri, E.1    Bertini, E.2    Messina, S.3
  • 74
    • 28644440158 scopus 로고    scopus 로고
    • Histone deacetylase inhibitors: Discovery and development as anticancer agents
    • Marks PA, Dokmanovic M. Histone deacetylase inhibitors: Discovery and development as anticancer agents. Expert Opin Investig Drugs. 2005;14:1497-1511.
    • (2005) Expert Opin Investig Drugs , vol.14 , pp. 1497-1511
    • Marks, P.A.1    Dokmanovic, M.2


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