메뉴 건너뛰기




Volumn 116, Issue 3, 2008, Pages 223-234

Pathogenesis of proximal autosomal recessive spinal muscular atrophy

Author keywords

Migration; Motoneurons; Pathogenesis; SMN1 gene; Spinal muscular atrophy

Indexed keywords

ACLARUBICIN; ARYLBUTYRIC ACID DERIVATIVE; HISTONE DEACETYLASE INHIBITOR; MESSENGER RNA; OLIGONUCLEOTIDE; SURVIVAL MOTOR NEURON PROTEIN; SURVIVAL MOTOR NEURON PROTEIN 1; TRICHOSTATIN A; VALPROIC ACID; VORINOSTAT;

EID: 49049091331     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-008-0411-1     Document Type: Review
Times cited : (45)

References (96)
  • 5
    • 0030776040 scopus 로고    scopus 로고
    • Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system
    • Battaglia G, Princivalle A, Forti F, Lizier C, Zeviani M (1997) Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system. Hum Mol Genet 6:1961-1971
    • (1997) Hum Mol Genet , vol.6 , pp. 1961-1971
    • Battaglia, G.1    Princivalle, A.2    Forti, F.3    Lizier, C.4    Zeviani, M.5
  • 6
    • 34548164132 scopus 로고    scopus 로고
    • Fishing for a mechanism: Using zebrafish to understand spinal muscular atrophy
    • Beattie CE, Carrel TE, McWhorter ML (2007) Fishing for a mechanism: using zebrafish to understand spinal muscular atrophy. J Child Neurol 22:995-1003
    • (2007) J Child Neurol , vol.22 , pp. 995-1003
    • Beattie, C.E.1    Carrel, T.E.2    McWhorter, M.L.3
  • 10
    • 26244434407 scopus 로고    scopus 로고
    • Is spinal muscular atrophy the result of defects in motor neuron processes?
    • Briese M, Esmaeili B, Sattelle DB (2005) Is spinal muscular atrophy the result of defects in motor neuron processes? BioEssays 27:946-957
    • (2005) BioEssays , vol.27 , pp. 946-957
    • Briese, M.1    Esmaeili, B.2    Sattelle, D.B.3
  • 12
    • 0037313165 scopus 로고    scopus 로고
    • Correction of disease-associated exon skipping by synthetic exon-specific activators
    • Cartegni L, Krainer AR (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
  • 14
    • 0018146015 scopus 로고
    • Werdnig-Hoffmann disease: Roposal of a pathogenetic mechanism
    • Chou SM, Nonaka I (1978) Werdnig-Hoffmann disease: Proposal of a pathogenetic mechanism. Acta Neuropathol 41:45-54
    • (1978) Acta Neuropathol , vol.41 , pp. 45-54
    • Chou, S.M.1    Nonaka, I.2
  • 15
    • 0030670844 scopus 로고    scopus 로고
    • Aberrant glycosylation/phoshorylation in chromatolytic motoneurons of Werdnig-Hoffmann disease
    • Chou SM, Wang HS (1997) Aberrant glycosylation/phoshorylation in chromatolytic motoneurons of Werdnig-Hoffmann disease. J Neurol Sci 152:198-209
    • (1997) J Neurol Sci , vol.152 , pp. 198-209
    • Chou, S.M.1    Wang, H.S.2
  • 16
    • 0028072058 scopus 로고
    • Neuronal death in the development of the vertebrate central nervous system
    • Clarke PGH (1994) Neuronal death in the development of the vertebrate central nervous system. Sem Neurosci 6:291-297
    • (1994) Sem Neurosci , vol.6 , pp. 291-297
    • Clarke, P.G.H.1
  • 17
    • 38749109267 scopus 로고    scopus 로고
    • Stem cells for the treatment of spinal cord injury
    • Coutts M, Keirstead HS (2008) Stem cells for the treatment of spinal cord injury. Exp Neurol 209:368-377
    • (2008) Exp Neurol , vol.209 , pp. 368-377
    • Coutts, M.1    Keirstead, H.S.2
  • 19
    • 38949190657 scopus 로고    scopus 로고
    • Genetic conversion of an SMN2 gene to SMN1: A novel approach to the treatment of spinal muscular atrophy
    • DiMatteo D, Callahan S, Kmiec EB (2008) Genetic conversion of an SMN2 gene to SMN1: A novel approach to the treatment of spinal muscular atrophy. Exp Cell Res 314:878-886
    • (2008) Exp Cell Res , vol.314 , pp. 878-886
    • DiMatteo, D.1    Callahan, S.2    Kmiec, E.B.3
  • 22
    • 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, 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
  • 24
    • 0036647269 scopus 로고    scopus 로고
    • Survival motor neuron (SMN) protein: Role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development
    • Fan L, Simard LR (2002) Survival motor neuron (SMN) protein: Role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development. Hum Mol Genet 11:1605-1614
    • (2002) Hum Mol Genet , vol.11 , pp. 1605-1614
    • Fan, L.1    Simard, L.R.2
  • 25
    • 0036154959 scopus 로고    scopus 로고
    • Quantitative analyses of SMN1 and SMN2 based on realtime light-cycler PCR: Ast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
    • Feldkötter M, Schwarzer V, Wirth R, Wienker TF, Wirth B (2002) Quantitative analyses of SMN1 and SMN2 based on realtime light-cycler 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
    • Feldkötter, M.1    Schwarzer, V.2    Wirth, R.3    Wienker, T.F.4    Wirth, B.5
  • 26
    • 0030928716 scopus 로고    scopus 로고
    • The SMN-SIP1 complex has an essential role in spliceosome biogenesis
    • Fischer U, Liu Q, Dreyfuss G (1997) The SMN-SIP1 complex has an essential role in spliceosome biogenesis. Cell 90:1023-1029
    • (1997) Cell , vol.90 , pp. 1023-1029
    • Fischer, U.1    Liu, Q.2    Dreyfuss, G.3
  • 29
    • 0018175156 scopus 로고
    • Spinal roots in Werdnig-Hoffmann disease
    • Ghatak NR (1978) Spinal roots in Werdnig-Hoffmann disease. Acta Neuropathol 41:1-7
    • (1978) Acta Neuropathol , vol.41 , pp. 1-7
    • Ghatak, N.R.1
  • 30
    • 33646810505 scopus 로고    scopus 로고
    • Neuronal-specific roles of the survival motor neuron protein: Evidence from survival motor neuron expression patterns in the developing human central nervous system
    • Giavazzi A, Setola V, Simonati A, Battaglia G (2006) Neuronal-specific roles of the survival motor neuron protein: Evidence from survival motor neuron expression patterns in the developing human central nervous system. J Neuropathol Exp Neurol 65:267-277
    • (2006) J Neuropathol Exp Neurol , vol.65 , pp. 267-277
    • Giavazzi, A.1    Setola, V.2    Simonati, A.3    Battaglia, G.4
  • 31
    • 0033621413 scopus 로고    scopus 로고
    • A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with smn in nuclear gems
    • Giesemann T, Rathke-Hartlieb S, Rothkegel M, Barthsch JW, Buchmeier S, Jockusch BM, Jockusch H (1999) A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with smn in nuclear gems. J Biol Chem 274:37908-37914
    • (1999) J Biol Chem , vol.274 , pp. 37908-37914
    • Giesemann, T.1    Rathke-Hartlieb, S.2    Rothkegel, M.3    Barthsch, J.W.4    Buchmeier, S.5    Jockusch, B.M.6    Jockusch, H.7
  • 32
    • 0012846286 scopus 로고
    • The anatomical identity of the Werdnig-Hoffmann and Oppenheim forms of infantile muscular atrophy
    • Greenfield JC, Stern RO (1927) The anatomical identity of the Werdnig-Hoffmann and Oppenheim forms of infantile muscular atrophy. Brain 50:652-686
    • (1927) Brain , vol.50 , pp. 652-686
    • Greenfield, J.C.1    Stern, R.O.2
  • 33
    • 23244458683 scopus 로고    scopus 로고
    • Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells
    • Grzeschik SM, Ganta M, Prior TW, Heavlin WD, Wang CH (2005) Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells. Ann Neurol 58:194-202
    • (2005) Ann Neurol , vol.58 , pp. 194-202
    • Grzeschik, S.M.1    Ganta, M.2    Prior, T.W.3    Heavlin, W.D.4    Wang, C.H.5
  • 38
    • 0031442184 scopus 로고    scopus 로고
    • Synergistic antiapoptotic activity between bcl-2 and SMN implicated in spinal muscular atrophy
    • Iwahashi H, Eguchi Y, Yasuhara N, Hanafusa T, Matsuzawa Y, Tsujimoto Y (1997) Synergistic antiapoptotic activity between bcl-2 and SMN implicated in spinal muscular atrophy. Nature 390:413-417
    • (1997) Nature , vol.390 , pp. 413-417
    • Iwahashi, H.1    Eguchi, Y.2    Yasuhara, N.3    Hanafusa, T.4    Matsuzawa, Y.5    Tsujimoto, Y.6
  • 39
    • 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, Buhler D, Wirth B, Sendtner M, Fischer U (2001) 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) Hum Mol Genet , vol.10 , pp. 497-505
    • Jablonka, S.1    Bandilla, M.2    Wiese, S.3    Buhler, D.4    Wirth, B.5    Sendtner, M.6    Fischer, U.7
  • 40
    • 26444523139 scopus 로고    scopus 로고
    • Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: Early leads towards a therapeutic for spinal muscular atrophy
    • Jarecki J, Chen X, Bernardino A, Coovert DD, Whitney M, Burghes A, Stack J, Pollok BA (2005) Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: Early leads towards a therapeutic for spinal muscular atrophy. Hum Mol Genet 14:2003-2018
    • (2005) Hum Mol Genet , vol.14 , pp. 2003-2018
    • Jarecki, J.1    Chen, X.2    Bernardino, A.3    Coovert, D.D.4    Whitney, M.5    Burghes, A.6    Stack, J.7    Pollok, B.A.8
  • 44
  • 45
    • 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, Zhang HL, Monani UR, Coovert DD, Gavrilina TO, Xing L, Bassell GJ, Burghes AH (2005) SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN. Hum Mol Genet 14:845-857
    • (2005) Hum Mol Genet , vol.14 , pp. 845-857
    • Le, T.T.1    Pham, L.T.2    Butchbach, M.E.3    Zhang, H.L.4    Monani, U.R.5    Coovert, D.D.6    Gavrilina, T.O.7    Xing, L.8    Bassell, G.J.9    Burghes, A.H.10
  • 48
    • 45849146018 scopus 로고    scopus 로고
    • Directed differentiation of ventral progenitors and motor neurons from human embryonic stem cells by small molecules
    • Li XJ, Hu BY, Jones SA, Zhang YS, Lavaute T, Du ZW, Zhang SC (2008) Directed differentiation of ventral progenitors and motor neurons from human embryonic stem cells by small molecules. Stem Cells 26:886-893
    • (2008) Stem Cells , vol.26 , pp. 886-893
    • Li, X.J.1    Hu, B.Y.2    Jones, S.A.3    Zhang, Y.S.4    Lavaute, T.5    Du, Z.W.6    Zhang, S.C.7
  • 50
    • 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 (1999) A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci 96:6307-6311
    • (1999) Proc Natl Acad Sci , vol.96 , pp. 6307-6311
    • Lorson, C.L.1    Hahnen, E.2    Androphy, E.J.3    Wirth, B.4
  • 54
    • 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 (2003) Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding. J Cell Biol 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
  • 55
    • 29144463310 scopus 로고    scopus 로고
    • Spinal muscular atrophy: A deficiency in a ubiqutous protein; a motor neuron specific disease
    • Monani UR (2005) Spinal muscular atrophy: A deficiency in a ubiqutous protein; a motor neuron specific disease. Neuron 48:885-896
    • (2005) Neuron , vol.48 , pp. 885-896
    • Monani, U.R.1
  • 57
    • 0033538274 scopus 로고    scopus 로고
    • Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT)
    • Monani UR, McPherson JD, Burghes AH (1999) Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT). Biochim Biophys Acta 1445:330-336
    • (1999) Biochim Biophys Acta , vol.1445 , pp. 330-336
    • Monani, U.R.1    McPherson, J.D.2    Burghes, A.H.3
  • 59
    • 0027057672 scopus 로고
    • International SMA consortium meeting
    • Munsat TL, Davies KE (1992) International SMA consortium meeting. Neuromuscul Disord 2:423-428
    • (1992) Neuromuscul Disord , vol.2 , pp. 423-428
    • Munsat, T.L.1    Davies, K.E.2
  • 60
    • 41149113045 scopus 로고    scopus 로고
    • Selective vulnerability of motor neurons and disociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy
    • Murray LM, Comley LH, Thomson D, Parkinson N, Talbot K, Gillingwater TH (2008) Selective vulnerability of motor neurons and disociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy. Hum Mol Genet 17:949-962
    • (2008) Hum Mol Genet , vol.17 , pp. 949-962
    • Murray, L.M.1    Comley, L.H.2    Thomson, D.3    Parkinson, N.4    Talbot, K.5    Gillingwater, T.H.6
  • 62
    • 0026058318 scopus 로고
    • Cell death during development of the nervous system
    • Oppenheim RW (1991) Cell death during development of the nervous system. Annu Rev Neurosci 14:453-501
    • (1991) Annu Rev Neurosci , vol.14 , pp. 453-501
    • Oppenheim, R.W.1
  • 64
    • 0034096078 scopus 로고    scopus 로고
    • Subcellular localization and axonal transport of the survival motor neuron (SMN) in the developing rat spinal cord
    • Pagliardini S, Giavazzi A, Setola V, Lizier C, Di Luca M, DeBiasi S, Battaglia G (2000) Subcellular localization and axonal transport of the survival motor neuron (SMN) in the developing rat spinal cord. Hum Mol Genet 9:47-56
    • (2000) Hum Mol Genet , vol.9 , pp. 47-56
    • Pagliardini, S.1    Giavazzi, A.2    Setola, V.3    Lizier, C.4    Di Luca, M.5    DeBiasi, S.6    Battaglia, G.7
  • 65
    • 44649087310 scopus 로고    scopus 로고
    • Survival motor neuron protein regulates apoptosis in an in vitro model of spinal muscular atrophy
    • Parker GC, Li X, Anguelov RA, Toth G, Cristescu A, Acsadi G (2008) Survival motor neuron protein regulates apoptosis in an in vitro model of spinal muscular atrophy. Neurotox Res 13:39-48
    • (2008) Neurotox Res , vol.13 , pp. 39-48
    • Parker, G.C.1    Li, X.2    Anguelov, R.A.3    Toth, G.4    Cristescu, A.5    Acsadi, G.6
  • 66
    • 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, Mendell JR, Burghes AH, Prior TW (1998) 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 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    Mendell, J.R.4    Burghes, A.H.5    Prior, T.W.6
  • 67
    • 0032444244 scopus 로고    scopus 로고
    • Neurons derived in vitro from ES cells express homeoproteins characteristic of motoneurons and interneurons
    • Renoncourt Y, Carroll P, Filippi P, Arce V, Alonso S (1998) Neurons derived in vitro from ES cells express homeoproteins characteristic of motoneurons and interneurons. Mech Dev 79:185-197
    • (1998) Mech Dev , vol.79 , pp. 185-197
    • Renoncourt, Y.1    Carroll, P.2    Filippi, P.3    Arce, V.4    Alonso, S.5
  • 68
    • 0036154096 scopus 로고    scopus 로고
    • Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNPQ: A role for Smn in RNA processing in motor axons?
    • Rossoll W, Kroning AK, Ohndorf UM, Steegborn C, Jablonka S, Sendtner M (2002) Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNPQ: 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
  • 69
    • 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, Kroning AK, Karle K, Monani UR, Sendtner M (2003) Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons. J Cell Biol 163:801-812
    • (2003) J Cell Biol , vol.163 , pp. 801-812
    • Rossoll, W.1    Jablonka, S.2    Andreassi, C.3    Kroning, A.K.4    Karle, K.5    Monani, U.R.6    Sendtner, M.7
  • 70
    • 0034035329 scopus 로고    scopus 로고
    • Regions essential for the interaction between Bcl-2 and SMN, the spinal muscular atrophy disease gene product
    • Sato K, Eguchi Y, Kodama TS, Tsujimoto Y (2000) Regions essential for the interaction between Bcl-2 and SMN, the spinal muscular atrophy disease gene product. Cell Death Differ 7:374-383
    • (2000) Cell Death Differ , vol.7 , pp. 374-383
    • Sato, K.1    Eguchi, Y.2    Kodama, T.S.3    Tsujimoto, Y.4
  • 72
    • 34548157546 scopus 로고    scopus 로고
    • Animal models of spinal muscular atrophy
    • Schmid A, Di Donato CJ (2007) Animal models of spinal muscular atrophy. J Child Neurol 22:1004-1012
    • (2007) J Child Neurol , vol.22 , pp. 1004-1012
    • Schmid, A.1    Di Donato, C.J.2
  • 74
    • 33846930562 scopus 로고    scopus 로고
    • Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis
    • Setola V, Terao M, Locatelli D, Bassanini S, Garattini E, Battaglia G (2007) Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis. Proc Natl Acad Sci USA 104:1959-1964
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 1959-1964
    • Setola, V.1    Terao, M.2    Locatelli, D.3    Bassanini, S.4    Garattini, E.5    Battaglia, G.6
  • 77
    • 0037388256 scopus 로고    scopus 로고
    • Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts
    • Skordis LA, Dunckley MG, Yue B, Eperon IC, Muntoni F (2003) Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts. Proc Natl Acad Sci USA 100:4114-4119
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 4114-4119
    • Skordis, L.A.1    Dunckley, M.G.2    Yue, B.3    Eperon, I.C.4    Muntoni, F.5
  • 79
    • 33646135323 scopus 로고    scopus 로고
    • Therapeutics development for spinal muscular atrophy
    • Sumner CJ (2006) Therapeutics development for spinal muscular atrophy. NeuroRx 3:235-245
    • (2006) NeuroRx , vol.3 , pp. 235-245
    • Sumner, C.J.1
  • 82
    • 49049109960 scopus 로고    scopus 로고
    • Molecular bases of spinal muscular atrophy: The survival motor neuron gene
    • Tizzano E, Baiget M (2001) Molecular bases of spinal muscular atrophy: the survival motor neuron gene. Contrib Science 2:35-42
    • (2001) Contrib Science , vol.2 , pp. 35-42
    • Tizzano, E.1    Baiget, M.2
  • 84
    • 18044361919 scopus 로고    scopus 로고
    • Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin-induced cell death
    • Wang W, DiMatteo D, Funanage VL, Scavivna M (2005) Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin-induced cell death. Mol Genet Metabol 85:38-45
    • (2005) Mol Genet Metabol , vol.85 , pp. 38-45
    • Wang, W.1    DiMatteo, D.2    Funanage, V.L.3    Scavivna, M.4
  • 85
    • 0001269734 scopus 로고
    • Zwei frühinfantile hereditäre Fälle von progressiver Muskelatrophie unter dem Bilde der Dystrophie, aber auf neurotischer Grundlage
    • Werdnig G (1891) Zwei frühinfantile hereditäre Fälle von progressiver Muskelatrophie unter dem Bilde der Dystrophie, aber auf neurotischer Grundlage. Arch Psychiatr Nervenkr 22:437-481
    • (1891) Arch Psychiatr Nervenkr , vol.22 , pp. 437-481
    • Werdnig, G.1
  • 86
    • 77957157543 scopus 로고    scopus 로고
    • Pathology of motor neuron disorders
    • In: Shaw PJ, Strong MJ (eds) book 28. Butterworth-Heineman, Philadelphia
    • Wharton S, Ince PG (2003) Pathology of motor neuron disorders. In: Shaw PJ, Strong MJ (eds) Motor neuron disorders. Blue books of practical neurology, book 28. Butterworth-Heineman, Philadelphia, pp 17-49
    • (2003) Motor Neuron Disorders. Blue Books of Practical Neurology , pp. 17-49
    • Wharton, S.1    Ince, P.G.2
  • 88
    • 33749264614 scopus 로고    scopus 로고
    • Spinal muscular atrophy: From gene to therapy
    • Wirth B, Brichta L, Hahnen E (2006) Spinal muscular atrophy: From gene to therapy. Sem Pediat Neurol 13:121-131
    • (2006) Sem Pediat Neurol , vol.13 , pp. 121-131
    • Wirth, B.1    Brichta, L.2    Hahnen, E.3
  • 89
    • 18144431041 scopus 로고    scopus 로고
    • A non-sequencespecific requirement for SMN protein activity: The role of aminoglycosides in inducing elevated SMN protein levels
    • Wolstencroft EC, Mattis V, Bajer AA, Young PJ, Lorson CL (2005) A non-sequencespecific requirement for SMN protein activity: The role of aminoglycosides in inducing elevated SMN protein levels. Hum Mol Genet 14:1199-1210
    • (2005) Hum Mol Genet , vol.14 , pp. 1199-1210
    • Wolstencroft, E.C.1    Mattis, V.2    Bajer, A.A.3    Young, P.J.4    Lorson, C.L.5
  • 90
    • 0032031012 scopus 로고    scopus 로고
    • Developmental patterns of bcl-2 and bcl-x polypeptide expression in the human spinal cord
    • Yachnis AT, Giovanini MA, Eskin TA, Reier PJ, Anderson DK (1998) Developmental patterns of bcl-2 and bcl-x polypeptide expression in the human spinal cord. Exp Neurol 150:82-97
    • (1998) Exp Neurol , vol.150 , pp. 82-97
    • Yachnis, A.T.1    Giovanini, M.A.2    Eskin, T.A.3    Reier, P.J.4    Anderson, D.K.5
  • 91
    • 0035325266 scopus 로고    scopus 로고
    • Nuclear gems and Cajal (coiled) bodies in fetal tissues: Nucleolar distribution of the spinal muscular atrophy protein, SMN
    • Young P, Le TT, Dunckley M, Nguyen TM, Burghes AH, Morris GE (2001) Nuclear gems and Cajal (coiled) bodies in fetal tissues: Nucleolar distribution of the spinal muscular atrophy protein, SMN. Exp Cell Res 265:252-261
    • (2001) Exp Cell Res , vol.265 , pp. 252-261
    • Young, P.1    Le, T.T.2    Dunckley, M.3    Nguyen, T.M.4    Burghes, A.H.5    Morris, G.E.6
  • 92
    • 0037169562 scopus 로고    scopus 로고
    • A direct interaction between survival motor neuron protein and p53 and its relationship to spinal muscular atrophy
    • Young PJ, Day PM, Androphy EJ, Morris GE, Lorson CL (2002) A direct interaction between survival motor neuron protein and p53 and its relationship to spinal muscular atrophy. J Biol Chem 277:2852-2859
    • (2002) J Biol Chem , vol.277 , pp. 2852-2859
    • Young, P.J.1    Day, P.M.2    Androphy, E.J.3    Morris, G.E.4    Lorson, C.L.5
  • 93
    • 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-Schöneborn S (1995) 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) Arch Neurol , vol.52 , pp. 518-523
    • Zerres, K.1    Rudnik-Schöneborn, S.2
  • 94
    • 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, Shenoy SM, Singer RH, Bassell GJ (2003) Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization. J Neurosci 23:6627-6637
    • (2003) J Neurosci , vol.23 , pp. 6627-6637
    • Zhang, H.L.1    Pan, F.2    Hong, D.3    Shenoy, S.M.4    Singer, R.H.5    Bassell, G.J.6
  • 95
    • 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 HL, Xing L, Rossoll W, Wichterle H, Singer RH, Bassell GJ (2006) Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons. J Neurosci 26:8622-8632
    • (2006) J Neurosci , vol.26 , pp. 8622-8632
    • Zhang, H.L.1    Xing, L.2    Rossoll, W.3    Wichterle, H.4    Singer, R.H.5    Bassell, G.J.6
  • 96
    • 43049168361 scopus 로고    scopus 로고
    • SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread deficits in splicing
    • Zhang Z, Lotti F, Dittmar K, Younis I, Wan L, Kasim M, Dreyfuss G (2008) SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread deficits in splicing. Cell 133:585-600
    • (2008) Cell , vol.133 , pp. 585-600
    • Zhang, Z.1    Lotti, F.2    Dittmar, K.3    Younis, I.4    Wan, L.5    Kasim, M.6    Dreyfuss, G.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.