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Volumn 5, Issue , 2015, Pages

Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN BINDING PROTEIN; BIOLOGICAL MARKER; MEMBRANE PROTEIN; PLASTIN; SMN1 PROTEIN, HUMAN; SURVIVAL MOTOR NEURON PROTEIN 1;

EID: 84933576365     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep11696     Document Type: Article
Times cited : (30)

References (78)
  • 1
    • 0028797783 scopus 로고
    • Identification and characterization of a spinal muscular atrophy-determining gene
    • doi: 0092-8674(95)90460-3
    • Lefebvre, S. et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80, 155-165, doi: 0092-8674(95)90460-3 (1995).
    • (1995) Cell , vol.80 , pp. 155-165
    • Lefebvre, S.1
  • 2
    • 0030981541 scopus 로고    scopus 로고
    • Correlation between severity and SMN protein level in spinal muscular atrophy
    • Lefebvre, S. et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet 16, 265-269, doi: 10.1038/ng0797-265 (1997).
    • (1997) Nat Genet , vol.16 , pp. 265-269
    • Lefebvre, S.1
  • 3
    • 0014708611 scopus 로고
    • Electromyography and muscle biopsy in infantile spinal muscular atrophy
    • Buchthal, F. & Olsen, P. Z. Electromyography and muscle biopsy in infantile spinal muscular atrophy. Brain 93, 15-30 (1970).
    • (1970) Brain , vol.93 , pp. 15-30
    • Buchthal, F.1    Olsen, P.Z.2
  • 4
    • 84886626405 scopus 로고
    • International collaborative study of the spinal muscular atrophies. Part. 1. Analysis of clinical and laboratory data
    • Emery, A. E. et al. International collaborative study of the spinal muscular atrophies. Part 1. Analysis of clinical and laboratory data. J Neurol Sci 29, 83-94 (1976).
    • (1976) J Neurol Sci , vol.29 , pp. 83-94
    • Emery, A.E.1
  • 5
    • 0027057672 scopus 로고
    • International SMA collaboration
    • (26-28 June 1992, Bonn, Germany)
    • Munsat, T. L. International SMA collaboration. (26-28 June 1992, Bonn, Germany). Neuromuscul Disord 2, 423-428 (1992).
    • (1992) Neuromuscul Disord , vol.2 , pp. 423-428
    • Munsat, T.L.1
  • 6
    • 34548190615 scopus 로고    scopus 로고
    • Spinal muscular atrophy: Clinical classification and disease heterogeneity
    • Russman, B. S. Spinal muscular atrophy: clinical classification and disease heterogeneity. J Child Neurol 22, 946-951, doi: 10.1177/0883073807305673 (2007).
    • (2007) J Child Neurol , vol.22 , pp. 946-951
    • Russman, B.S.1
  • 7
    • 0031800695 scopus 로고    scopus 로고
    • SMN oligomerization defect correlates with spinal muscular atrophy severity
    • Lorson, C. L. et al. SMN oligomerization defect correlates with spinal muscular atrophy severity. Nat Genet 19, 63-66, doi: 10.1038/ng0598-63 (1998).
    • (1998) Nat Genet , vol.19 , pp. 63-66
    • Lorson, C.L.1
  • 8
    • 0033983258 scopus 로고    scopus 로고
    • An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
    • doi: ddd018
    • Lorson, C. L. & Androphy, E. J. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN. Hum Mol Genet 9, 259-265, doi: ddd018 (2000).
    • (2000) Hum Mol Genet , vol.9 , pp. 259-265
    • Lorson, C.L.1    Androphy, E.J.2
  • 9
    • 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. & Wirth, B. 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).
    • (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
  • 10
    • 15244356829 scopus 로고    scopus 로고
    • Implication of fetal SMN2 expression in type i SMA pathogenesis: Protection or pathological gain of function?
    • Soler-Botija, C. et al. Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function? J Neuropathol Exp Neurol 64, 215-223 (2005).
    • (2005) J Neuropathol Exp Neurol , vol.64 , pp. 215-223
    • Soler-Botija, C.1
  • 11
    • 84871718500 scopus 로고    scopus 로고
    • Spinal muscular atrophy: Going beyond the motor neuron
    • Hamilton, G. & Gillingwater, T. H. Spinal muscular atrophy: going beyond the motor neuron. Trends Mol Med 19, 40-50, doi: 10.1016/j.molmed.2012.11.002 (2013).
    • (2013) Trends Mol Med , vol.19 , pp. 40-50
    • Hamilton, G.1    Gillingwater, T.H.2
  • 12
    • 79959658484 scopus 로고    scopus 로고
    • The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy
    • Sleigh, J. N., Gillingwater, T. H. & Talbot, K. The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy. Dis Model Mech 4, 457-467, doi: 10.1242/dmm.007245 (2011).
    • (2011) Dis Model Mech , vol.4 , pp. 457-467
    • Sleigh, J.N.1    Gillingwater, T.H.2    Talbot, K.3
  • 13
    • 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. & Wirth, B. 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, doi: 10.1086/338627 (2002).
    • (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
  • 14
    • 33645743043 scopus 로고    scopus 로고
    • Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number
    • Wirth, B. et al. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet 119, 422-428, doi: 10.1007/s00439-006-0156-7 (2006).
    • (2006) Hum Genet , vol.119 , pp. 422-428
    • Wirth, B.1
  • 15
    • 31544446845 scopus 로고    scopus 로고
    • SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings
    • Cusco, I. et al. SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings. J Neurol 253, 21-25, doi: 10.1007/s00415-005-0912-y (2006).
    • (2006) J Neurol , vol.253 , pp. 21-25
    • Cusco, I.1
  • 16
    • 0029143853 scopus 로고
    • Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy
    • Cobben, J. M. et al. Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet 57, 805-808 (1995).
    • (1995) Am J Hum Genet , vol.57 , pp. 805-808
    • Cobben, J.M.1
  • 17
    • 0028785098 scopus 로고
    • Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: Evidence of homozygous deletions of the SMN gene in unaffected individuals
    • Hahnen, E. et al. Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum Mol Genet 4, 1927-1933 (1995).
    • (1995) Hum Mol Genet , vol.4 , pp. 1927-1933
    • Hahnen, E.1
  • 18
    • 0030220199 scopus 로고    scopus 로고
    • Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern
    • doi: 0960896696003501
    • Capon, F. et al. Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern. Neuromuscul Disord 6, 261-264, doi: 0960896696003501 (1996).
    • (1996) Neuromuscul Disord , vol.6 , pp. 261-264
    • Capon, F.1
  • 19
    • 0030051493 scopus 로고    scopus 로고
    • Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy
    • doi: 5w0306
    • Wang, C. H. et al. Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy. Hum Mol Genet 5, 359-365, doi: 5w0306 (1996).
    • (1996) Hum Mol Genet , vol.5 , pp. 359-365
    • Wang, C.H.1
  • 20
    • 0030951097 scopus 로고    scopus 로고
    • Cramps and minimal EMG abnormalities as preclinical manifestations of spinal muscular atrophy patients with homozygous deletions of the SMN gene
    • Bussaglia, E., Tizzano, E. F., Illa, I., Cervera, C. & Baiget, M. Cramps and minimal EMG abnormalities as preclinical manifestations of spinal muscular atrophy patients with homozygous deletions of the SMN gene. Neurology 48, 1443-1445 (1997).
    • (1997) Neurology , vol.48 , pp. 1443-1445
    • Bussaglia, E.1    Tizzano, E.F.2    Illa, I.3    Cervera, C.4    Baiget, M.5
  • 21
    • 0043094001 scopus 로고    scopus 로고
    • A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399-402del AGAG, the most frequently found subtle mutation in the SMN1 gene
    • Cusco, I. et al. A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399-402del AGAG, the most frequently found subtle mutation in the SMN1 gene. Hum Mutat 22, 136-143, doi: 10.1002/humu.10245 (2003).
    • (2003) Hum Mutat , vol.22 , pp. 136-143
    • Cusco, I.1
  • 22
    • 42549088649 scopus 로고    scopus 로고
    • Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy
    • Oprea, G. E. et al. Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science 320, 524-527, doi: 10.1126/science.1155085 (2008).
    • (2008) Science , vol.320 , pp. 524-527
    • Oprea, G.E.1
  • 23
    • 77957939276 scopus 로고    scopus 로고
    • Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females
    • Stratigopoulos, G. et al. Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females. Arch Neurol 67, 1252-1256, doi: 10.1001/archneurol.2010.239 (2010).
    • (2010) Arch Neurol , vol.67 , pp. 1252-1256
    • Stratigopoulos, G.1
  • 24
    • 84893301832 scopus 로고    scopus 로고
    • Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy
    • Yanyan, C. et al. Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy. J Hum Genet 59, 24-27, doi: 10.1038/jhg.2013.111 (2014).
    • (2014) J Hum Genet , vol.59 , pp. 24-27
    • Yanyan, C.1
  • 25
    • 79956078892 scopus 로고    scopus 로고
    • Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings
    • Bernal, S. et al. Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings. Neuromuscul Disord 21, 413-419, doi: 10.1016/j.nmd.2011.03.009 (2011).
    • (2011) Neuromuscul Disord , vol.21 , pp. 413-419
    • Bernal, S.1
  • 26
    • 0028842926 scopus 로고
    • A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients
    • Bussaglia, E. et al. A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet 11, 335-337, doi: 10.1038/ng1195-335 (1995).
    • (1995) Nat Genet , vol.11 , pp. 335-337
    • Bussaglia, E.1
  • 27
    • 58249110796 scopus 로고    scopus 로고
    • Induced pluripotent stem cells from a spinal muscular atrophy patient
    • Ebert, A. D. et al. Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature 457, 277-280, doi: 10.1038/ nature07677 (2009).
    • (2009) Nature , vol.457 , pp. 277-280
    • Ebert, A.D.1
  • 28
    • 84862518720 scopus 로고    scopus 로고
    • Inhibition of apoptosis blocks human motor neuron cell death in a stem cell model of spinal muscular atrophy
    • Sareen, D. et al. Inhibition of apoptosis blocks human motor neuron cell death in a stem cell model of spinal muscular atrophy. PLoS One 7, e39113, doi: 10.1371/journal.pone.0039113 (2012).
    • (2012) PLoS One , vol.7
    • Sareen, D.1
  • 29
    • 81855206164 scopus 로고    scopus 로고
    • Brief report: Phenotypic rescue of induced pluripotent stem cell-derived motoneurons of a spinal muscular atrophy patient
    • Chang, T. et al. Brief report: phenotypic rescue of induced pluripotent stem cell-derived motoneurons of a spinal muscular atrophy patient. Stem Cells 29, 2090-2093, doi: 10.1002/stem.749 (2011).
    • (2011) Stem Cells , vol.29 , pp. 2090-2093
    • Chang, T.1
  • 30
    • 84871529372 scopus 로고    scopus 로고
    • Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy
    • Corti, S. et al. Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy. Sci Transl Med 4, 165ra162, doi: 10.1126/scitranslmed.3004108 (2012).
    • (2012) Sci Transl Med , vol.4 , pp. 165ra162
    • Corti, S.1
  • 31
    • 36248966518 scopus 로고    scopus 로고
    • Induction of pluripotent stem cells from adult human fibroblasts by defined factors
    • Takahashi, K. et al. Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell 131, 861-872, doi: 10.1016/j.cell.2007.11.019 (2007).
    • (2007) Cell , vol.131 , pp. 861-872
    • Takahashi, K.1
  • 32
    • 70249133666 scopus 로고    scopus 로고
    • Differentiation of spinal motor neurons from pluripotent human stem cells
    • Hu, B. Y. & Zhang, S. C. Differentiation of spinal motor neurons from pluripotent human stem cells. Nat Protoc 4, 1295-1304, doi: 10.1038/nprot.2009.127 (2009).
    • (2009) Nat Protoc , vol.4 , pp. 1295-1304
    • Hu, B.Y.1    Zhang, S.C.2
  • 33
    • 4243150837 scopus 로고    scopus 로고
    • Analysis of embryonic motoneuron gene regulation: Derepression of general activators function in concert with enhancer factors
    • Lee, S. K., Jurata, L. W., Funahashi, J., Ruiz, E. C. & Pfaff, S. L. Analysis of embryonic motoneuron gene regulation: derepression of general activators function in concert with enhancer factors. Development 131, 3295-3306, doi: 10.1242/dev.01179 (2004).
    • (2004) Development , vol.131 , pp. 3295-3306
    • Lee, S.K.1    Jurata, L.W.2    Funahashi, J.3    Ruiz, E.C.4    Pfaff, S.L.5
  • 34
    • 56549115885 scopus 로고    scopus 로고
    • Non-cell-autonomous effect of human SOD1 G37R astrocytes on motor neurons derived from human embryonic stem cells
    • Marchetto, M. C. et al. Non-cell-autonomous effect of human SOD1 G37R astrocytes on motor neurons derived from human embryonic stem cells. Cell Stem Cell 3, 649-657, doi: 10.1016/j.stem.2008.10.001 (2008).
    • (2008) Cell Stem Cell , vol.3 , pp. 649-657
    • Marchetto, M.C.1
  • 35
    • 80053575220 scopus 로고    scopus 로고
    • Rapid and efficient generation of functional motor neurons from human pluripotent stem cells using gene delivered transcription factor codes
    • Hester, M. E. et al. Rapid and efficient generation of functional motor neurons from human pluripotent stem cells using gene delivered transcription factor codes. Mol Ther 19, 1905-1912, doi: 10.1038/mt.2011.135 (2011).
    • (2011) Mol Ther , vol.19 , pp. 1905-1912
    • Hester, M.E.1
  • 36
    • 45849146018 scopus 로고    scopus 로고
    • Directed differentiation of ventral spinal progenitors and motor neurons from human embryonic stem cells by small molecules
    • Li, X. J. et al. Directed differentiation of ventral spinal progenitors and motor neurons from human embryonic stem cells by small molecules. Stem Cells 26, 886-893, doi: 10.1634/stemcells.2007-0620 (2008).
    • (2008) Stem Cells , vol.26 , pp. 886-893
    • Li, X.J.1
  • 37
    • 80053052120 scopus 로고    scopus 로고
    • Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter-and intra-patient variability
    • Also-Rallo, E. et al. Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter-and intra-patient variability. Eur J Hum Genet 19, 1059-1065, doi: 10.1038/ejhg.2011.89 (2011).
    • (2011) Eur J Hum Genet , vol.19 , pp. 1059-1065
    • Also-Rallo, E.1
  • 38
    • 84925780045 scopus 로고    scopus 로고
    • Combinatorial analysis of developmental cues efficiently converts human pluripotent stem cells into multiple neuronal subtypes
    • Maury, Y. et al. Combinatorial analysis of developmental cues efficiently converts human pluripotent stem cells into multiple neuronal subtypes. Nat Biotechnol 33, 89-96, doi: 10.1038/nbt.3049 (2015).
    • (2015) Nat Biotechnol , vol.33 , pp. 89-96
    • Maury, Y.1
  • 39
    • 84880836806 scopus 로고    scopus 로고
    • Spinal muscular atrophy astrocytes exhibit abnormal calcium regulation and reduced growth factor production
    • McGivern, J. V. et al. Spinal muscular atrophy astrocytes exhibit abnormal calcium regulation and reduced growth factor production. Glia 61, 1418-1428, doi: 10.1002/glia.22522 (2013).
    • (2013) Glia , vol.61 , pp. 1418-1428
    • McGivern, J.V.1
  • 40
    • 78751700314 scopus 로고    scopus 로고
    • Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice
    • Dominguez, E. et al. Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice. Hum Mol Genet 20, 681-693, doi: 10.1093/hmg/ddq514 (2011).
    • (2011) Hum Mol Genet , vol.20 , pp. 681-693
    • Dominguez, E.1
  • 41
    • 77749249680 scopus 로고    scopus 로고
    • Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
    • Foust, K. D. et al. Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nat Biotechnol 28, 271-274, doi: 10.1038/nbt.1610 (2010).
    • (2010) Nat Biotechnol , vol.28 , pp. 271-274
    • Foust, K.D.1
  • 42
    • 84866934033 scopus 로고    scopus 로고
    • Limited phenotypic effects of selectively augmenting the SMN protein in the neurons of a mouse model of severe spinal muscular atrophy
    • Lee, A. J., Awano, T., Park, G. H. & Monani, U. R. Limited phenotypic effects of selectively augmenting the SMN protein in the neurons of a mouse model of severe spinal muscular atrophy. PLoS One 7, e46353, doi: 10.1371/journal.pone.0046353 (2012).
    • (2012) PLoS One , vol.7
    • Lee, A.J.1    Awano, T.2    Park, G.H.3    Monani, U.R.4
  • 43
    • 84862883258 scopus 로고    scopus 로고
    • Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy
    • Martinez, T. L. et al. Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy. J Neurosci 32, 8703-8715, doi: 10.1523/JNEUROSCI.0204-12.2012 (2012).
    • (2012) J Neurosci , vol.32 , pp. 8703-8715
    • Martinez, T.L.1
  • 44
    • 84872862067 scopus 로고    scopus 로고
    • Synaptic defects in type i spinal muscular atrophy in human development
    • Martinez-Hernandez, R. et al. Synaptic defects in type I spinal muscular atrophy in human development. J Pathol 229, 49-61, doi: 10.1002/path.4080 (2013).
    • (2013) J Pathol , vol.229 , pp. 49-61
    • Martinez-Hernandez, R.1
  • 45
    • 84855447114 scopus 로고    scopus 로고
    • Using induced pluripotent stem cells (iPSC) to model human neuromuscular connectivity: Promise or reality?
    • Thomson, S. R., Wishart, T. M., Patani, R., Chandran, S. & Gillingwater, T. H. Using induced pluripotent stem cells (iPSC) to model human neuromuscular connectivity: promise or reality? J Anat 220, 122-130, doi: 10.1111/j.1469-7580.2011.01459.x (2012).
    • (2012) J Anat , vol.220 , pp. 122-130
    • Thomson, S.R.1    Wishart, T.M.2    Patani, R.3    Chandran, S.4    Gillingwater, T.H.5
  • 46
    • 0034639745 scopus 로고    scopus 로고
    • Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: An animal model for spinal muscular atrophy type III
    • doi: ddd051
    • Jablonka, S., Schrank, B., Kralewski, M., Rossoll, W. & Sendtner, M. Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III. Hum Mol Genet 9, 341-346, doi: ddd051 (2000).
    • (2000) Hum Mol Genet , vol.9 , pp. 341-346
    • Jablonka, S.1    Schrank, B.2    Kralewski, M.3    Rossoll, W.4    Sendtner, M.5
  • 47
    • 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. 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 10, 497-505 (2001).
    • (2001) Hum Mol Genet , vol.10 , pp. 497-505
    • Jablonka, S.1
  • 48
    • 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 10, 2913-2923 (1998).
    • (1998) Eur J Neurosci , vol.10 , pp. 2913-2923
    • La Bella, V.1    Cisterni, C.2    Salaun, D.3    Pettmann, B.4
  • 49
    • 28744434333 scopus 로고    scopus 로고
    • The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation
    • Gabanella, F., Carissimi, C., Usiello, A. & Pellizzoni, L. The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation. Hum Mol Genet 14, 3629-3642, doi: 10.1093/hmg/ddi390 (2005).
    • (2005) Hum Mol Genet , vol.14 , pp. 3629-3642
    • Gabanella, F.1    Carissimi, C.2    Usiello, A.3    Pellizzoni, L.4
  • 50
    • 0034096078 scopus 로고    scopus 로고
    • Subcellular localization and axonal transport of the survival motor neuron (SMN) protein in the developing rat spinal cord
    • doi: ddd013
    • Pagliardini, S. et al. Subcellular localization and axonal transport of the survival motor neuron (SMN) protein in the developing rat spinal cord. Hum Mol Genet 9, 47-56, doi: ddd013 (2000).
    • (2000) Hum Mol Genet , vol.9 , pp. 47-56
    • Pagliardini, S.1
  • 51
    • 0031859373 scopus 로고    scopus 로고
    • Cell-specific survival motor neuron gene expression during human development of the central nervous system: Implications for the pathogenesis of spinal muscular atrophy
    • Tizzano, E. F., Cabot, C. & Baiget, M. Cell-specific survival motor neuron gene expression during human development of the central nervous system: implications for the pathogenesis of spinal muscular atrophy. Am J Pathol 153, 355-361, doi: 10.1016/ S0002-9440(10)65578-2 (1998).
    • (1998) Am J Pathol , vol.153 , pp. 355-361
    • Tizzano, E.F.1    Cabot, C.2    Baiget, M.3
  • 52
    • 0031171211 scopus 로고    scopus 로고
    • Expression study of survival motor neuron gene in human fetal tissues
    • doi: S1077315097925904
    • Novelli, G. et al. Expression study of survival motor neuron gene in human fetal tissues. Biochem Mol Med 61, 102-106, doi: S1077315097925904 (1997).
    • (1997) Biochem Mol Med , vol.61 , pp. 102-106
    • Novelli, G.1
  • 53
    • 0345599021 scopus 로고    scopus 로고
    • Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of betaactin mRNA in growth cones of motoneurons
    • Rossoll, W. et al. Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of betaactin mRNA in growth cones of motoneurons. J Cell Biol 163, 801-812, doi: 10.1083/jcb.200304128 (2003).
    • (2003) J Cell Biol , vol.163 , pp. 801-812
    • Rossoll, W.1
  • 54
    • 35348929982 scopus 로고    scopus 로고
    • Defective Ca2+ channel clustering in axon terminals disturbs excitability in motoneurons in spinal muscular atrophy
    • Jablonka, S., Beck, M., Lechner, B. D., Mayer, C. & Sendtner, M. Defective Ca2+ channel clustering in axon terminals disturbs excitability in motoneurons in spinal muscular atrophy. J Cell Biol 179, 139-149, doi: 10.1083/jcb.200703187 (2007).
    • (2007) J Cell Biol , vol.179 , pp. 139-149
    • Jablonka, S.1    Beck, M.2    Lechner, B.D.3    Mayer, C.4    Sendtner, M.5
  • 55
    • 84878941262 scopus 로고    scopus 로고
    • Temporal requirement for SMN in motoneuron development
    • Hao le, T. et al. Temporal requirement for SMN in motoneuron development. Hum Mol Genet 22, 2612-2625, doi: 10.1093/hmg/ ddt110 (2013).
    • (2013) Hum Mol Genet , vol.22 , pp. 2612-2625
    • Hao Le, T.1
  • 56
    • 57049106233 scopus 로고    scopus 로고
    • Neurodevelopmental abnormalities in neurosphere-derived neural stem cells from SMN-depleted mice
    • Shafey, D., MacKenzie, A. E. & Kothary, R. Neurodevelopmental abnormalities in neurosphere-derived neural stem cells from SMN-depleted mice. J Neurosci Res 86, 2839-2847, doi: 10.1002/jnr.21743 (2008).
    • (2008) J Neurosci Res , vol.86 , pp. 2839-2847
    • Shafey, D.1    Mackenzie, A.E.2    Kothary, R.3
  • 57
    • 0042887389 scopus 로고    scopus 로고
    • Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding
    • McWhorter, M. L., Monani, U. R., Burghes, A. H. & Beattie, C. E. Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding. J Cell Biol 162, 919-931, doi: 10.1083/jcb.200303168 (2003).
    • (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
  • 58
    • 76549115901 scopus 로고    scopus 로고
    • Reduced levels of survival motor neuron protein leads to aberrant motoneuron growth in a Xenopus model of muscular atrophy
    • Ymlahi-Ouazzani, Q. et al. Reduced levels of survival motor neuron protein leads to aberrant motoneuron growth in a Xenopus model of muscular atrophy. Neurogenetics 11, 27-40, doi: 10.1007/s10048-009-0200-6 (2010).
    • (2010) Neurogenetics , vol.11 , pp. 27-40
    • Ymlahi-Ouazzani, Q.1
  • 59
    • 0036310343 scopus 로고    scopus 로고
    • Neuronal death is enhanced and begins during foetal development in type i spinal muscular atrophy spinal cord
    • Soler-Botija, C., Ferrer, I., Gich, I., Baiget, M. & Tizzano, E. F. Neuronal death is enhanced and begins during foetal development in type I spinal muscular atrophy spinal cord. Brain 125, 1624-1634 (2002).
    • (2002) Brain , vol.125 , pp. 1624-1634
    • Soler-Botija, C.1    Ferrer, I.2    Gich, I.3    Baiget, M.4    Tizzano, E.F.5
  • 60
    • 0346033442 scopus 로고    scopus 로고
    • Downregulation of Bcl-2 proteins in type i spinal muscular atrophy motor neurons during fetal development
    • Soler-Botija, C., Ferrer, I., Alvarez, J. L., Baiget, M. & Tizzano, E. F. Downregulation of Bcl-2 proteins in type I spinal muscular atrophy motor neurons during fetal development. J Neuropathol Exp Neurol 62, 420-426 (2003).
    • (2003) J Neuropathol Exp Neurol , vol.62 , pp. 420-426
    • Soler-Botija, C.1    Ferrer, I.2    Alvarez, J.L.3    Baiget, M.4    Tizzano, E.F.5
  • 61
    • 70149104463 scopus 로고    scopus 로고
    • The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation
    • Martinez-Hernandez, R. et al. The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation. J Neuropathol Exp Neurol 68, 474-481, doi: 10.1097/NEN.0b013-3181a10ea1 (2009).
    • (2009) J Neuropathol Exp Neurol , vol.68 , pp. 474-481
    • Martinez-Hernandez, R.1
  • 62
    • 0035965788 scopus 로고    scopus 로고
    • The SMN genes are subject to transcriptional regulation during cellular differentiation
    • doi: S0378-1119
    • Germain-Desprez, D. et al. The SMN genes are subject to transcriptional regulation during cellular differentiation. Gene 279, 109-117, doi: S0378-1119(01)00758-2 (2001).
    • (2001) Gene , vol.279 , pp. 109-117
    • Germain-Desprez, D.1
  • 63
    • 84874649253 scopus 로고    scopus 로고
    • Recapitulation of spinal motor neuron-specific disease phenotypes in a human cell model of spinal muscular atrophy
    • Wang, Z. B., Zhang, X. & Li, X. J. Recapitulation of spinal motor neuron-specific disease phenotypes in a human cell model of spinal muscular atrophy. Cell Res 23, 378-393, doi: 10.1038/cr.2012.166 (2013).
    • (2013) Cell Res , vol.23 , pp. 378-393
    • Wang, Z.B.1    Zhang, X.2    Li, X.J.3
  • 64
    • 84860467692 scopus 로고    scopus 로고
    • Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study
    • Crawford, T. O. et al. Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study. PLoS One 7, e33572, doi: 10.1371/journal.pone.0033572 (2012).
    • (2012) PLoS One , vol.7
    • Crawford, T.O.1
  • 65
    • 84875236246 scopus 로고    scopus 로고
    • Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality
    • Ackermann, B. et al. Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality. Hum Mol Genet 22, 1328-1347, doi: 10.1093/hmg/dds540 (2013).
    • (2013) Hum Mol Genet , vol.22 , pp. 1328-1347
    • Ackermann, B.1
  • 66
    • 84859529773 scopus 로고    scopus 로고
    • Survival motor neuron affects plastin 3 protein levels leading to motor defects
    • Hao le, T., Wolman, M., Granato, M. & Beattie, C. E. Survival motor neuron affects plastin 3 protein levels leading to motor defects. J Neurosci 32, 5074-5084, doi: 10.1523/JNEUROSCI.5808-11.2012 (2012).
    • (2012) J Neurosci , vol.32 , pp. 5074-5084
    • Hao Le, T.1    Wolman, M.2    Granato, M.3    Beattie, C.E.4
  • 67
    • 33646121056 scopus 로고    scopus 로고
    • SMN mRNA and protein levels in peripheral blood: Biomarkers for SMA clinical trials
    • Sumner, C. J. et al. SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials. Neurology 66, 1067-1073, doi: 10.1212/01.wnl.0000201929.56928.13 (2006).
    • (2006) Neurology , vol.66 , pp. 1067-1073
    • Sumner, C.J.1
  • 68
    • 84880961451 scopus 로고    scopus 로고
    • Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: Clues from a biomarker study
    • Tiziano, F. D. et al. Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study. Eur J Hum Genet 21, 630-636, doi: 10.1038/ejhg.2012.233 (2013).
    • (2013) Eur J Hum Genet , vol.21 , pp. 630-636
    • Tiziano, F.D.1
  • 69
    • 77449106557 scopus 로고    scopus 로고
    • SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR
    • Tiziano, F. D. et al. SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. Eur J Hum Genet 18, 52-58, doi: 10.1038/ejhg.2009.116 (2010).
    • (2010) Eur J Hum Genet , vol.18 , pp. 52-58
    • Tiziano, F.D.1
  • 70
    • 33645223062 scopus 로고    scopus 로고
    • A novel cell immunoassay to measure survival of motor neurons protein in blood cells
    • Kolb, S. J. et al. A novel cell immunoassay to measure survival of motor neurons protein in blood cells. Neurol 6, 6, doi: 10.1186/1471-2377-6-6 (2006).
    • (2006) Neurol , vol.6 , pp. 6
    • Kolb, S.J.1
  • 71
    • 34848897216 scopus 로고    scopus 로고
    • A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy
    • Vezain, M. et al. A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy. Eur J Hum Genet 15, 1054-1062, doi: 10.1038/sj.ejhg.5201885 (2007).
    • (2007) Eur J Hum Genet , vol.15 , pp. 1054-1062
    • Vezain, M.1
  • 72
    • 33846820104 scopus 로고    scopus 로고
    • Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA
    • Simard, L. R. et al. Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA. Neurology 68, 451-456, doi: 10.1212/01.wnl.0000252934.70676.ab (2007).
    • (2007) Neurology , vol.68 , pp. 451-456
    • Simard, L.R.1
  • 73
    • 48249105103 scopus 로고    scopus 로고
    • Unaffected patients with a homozygous absence of the SMN1 gene
    • Jedrzejowska, M. et al. Unaffected patients with a homozygous absence of the SMN1 gene. Eur J Hum Genet 16, 930-934, doi: 10.1038/ejhg.2008.41 (2008).
    • (2008) Eur J Hum Genet , vol.16 , pp. 930-934
    • Jedrzejowska, M.1
  • 74
    • 0028904953 scopus 로고
    • Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications
    • Zerres, K. & Rudnik-Schoneborn, S. Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol 52, 518-523 (1995).
    • (1995) Arch Neurol , vol.52 , pp. 518-523
    • Zerres, K.1    Rudnik-Schoneborn, S.2
  • 75
    • 33644822908 scopus 로고    scopus 로고
    • Effective gene therapy with nonintegrating lentiviral vectors
    • Yáñez-Muñoz, R. J. et al. Effective gene therapy with nonintegrating lentiviral vectors. Nat Med 12, 348-353, doi: 10.1038/ nm1365 (2006).
    • (2006) Nat Med , vol.12 , pp. 348-353
    • Yáñez-Muñoz, R.J.1
  • 76
    • 80052416360 scopus 로고    scopus 로고
    • Protein transfer into human cells by VSV-G-induced nanovesicles
    • Mangeot, P. E. et al. Protein transfer into human cells by VSV-G-induced nanovesicles. Mol Ther 19, 1656-1666, doi: 10.1038/ mt.2011.138 (2011).
    • (2011) Mol Ther , vol.19 , pp. 1656-1666
    • Mangeot, P.E.1
  • 77
    • 38049187707 scopus 로고    scopus 로고
    • Reprogramming of human somatic cells to pluripotency with defined factors
    • Park, I. H. et al. Reprogramming of human somatic cells to pluripotency with defined factors. Nature 451, 141-146, doi: 10.1038/ nature06534 (2008).
    • (2008) Nature , vol.451 , pp. 141-146
    • Park, I.H.1
  • 78
    • 0037129827 scopus 로고    scopus 로고
    • Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes
    • RESEARCH0034
    • Vandesompele, J. et al. Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Biol 3, RESEARCH0034 (2002).
    • (2002) Biol , vol.3
    • Vandesompele, J.1


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