메뉴 건너뛰기




Volumn 9, Issue 5, 2000, Pages 849-858

Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy

Author keywords

[No Author keywords available]

Indexed keywords

COILIN; MUTANT PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

EID: 0034701295     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.5.849     Document Type: Article
Times cited : (216)

References (29)
  • 1
    • 0344255833 scopus 로고
    • The gene frequency of acute Werdnig-Hoffmann disease (SMa type I). A total population survey in North-East England
    • Pearn, J. (1973) The gene frequency of acute Werdnig-Hoffmann disease (SMA type I). A total population survey in North-East England. J. Med. Genet., 10, 260-265.
    • (1973) J. Med. Genet. , vol.10 , pp. 260-265
    • Pearn, J.1
  • 2
    • 0018238065 scopus 로고
    • Incidence, prevalence and gene frequency studies of chronic childhood spinal muscular atrophy
    • Peam, J. (1978) Incidence, prevalence and gene frequency studies of chronic childhood spinal muscular atrophy. J. Med. Genet., 15, 409-413.
    • (1978) J. Med. Genet. , vol.15 , pp. 409-413
    • Peam, J.1
  • 6
    • 0033033434 scopus 로고    scopus 로고
    • A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
    • Lorson, C.L., Hahnen, E., Androphy, E.J. and Wirth, B. (1999) A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc. Natl Acad. Sci. USA, 96, 6307-6311.
    • (1999) Proc. Natl Acad. Sci. USA , vol.96 , pp. 6307-6311
    • Lorson, C.L.1    Hahnen, E.2    Androphy, E.J.3    Wirth, B.4
  • 8
    • 0029954338 scopus 로고    scopus 로고
    • A novel nuclear structure containing the survival of motor neuron protein
    • Liu, Q. and Dreyfuss, G. (1996). A novel nuclear structure containing the survival of motor neuron protein. EMBO J., 15, 3555-3565.
    • (1996) EMBO J. , vol.15 , pp. 3555-3565
    • Liu, Q.1    Dreyfuss, G.2
  • 9
    • 0030928716 scopus 로고    scopus 로고
    • The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis
    • Fischer, U., Liu, Q. and Dreyfuss, G. (1997) The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. Cell, 90, 1023-1029.
    • (1997) Cell , vol.90 , pp. 1023-1029
    • Fischer, U.1    Liu, Q.2    Dreyfuss, G.3
  • 10
    • 0032567036 scopus 로고    scopus 로고
    • A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing
    • Pellizzoni, L., Kataoka, N., Charroux, B. and Dreyfuss, G. (1998) A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing. Cell, 95, 615-624.
    • (1998) Cell , vol.95 , pp. 615-624
    • Pellizzoni, L.1    Kataoka, N.2    Charroux, B.3    Dreyfuss, G.4
  • 11
    • 0032576729 scopus 로고    scopus 로고
    • Ribonucleoprotein assembly: Clues from spinal muscular atrophy
    • Mattaj, I.W. (1998) Ribonucleoprotein assembly: clues from spinal muscular atrophy. Curr. Biol., 8, 93-95.
    • (1998) Curr. Biol. , vol.8 , pp. 93-95
    • Mattaj, I.W.1
  • 13
    • 0030896085 scopus 로고    scopus 로고
    • Cloning, characterization, and copy number of the murine survival motor neuron gene: Homolog of the spinal muscular atrophy-determining gene
    • DiDonato, C.J., Chen, X.N., Noya, D., Korenberg, J.R., Nadeau, J.H. and Simard, L.R. (1997) Cloning, characterization, and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene. Genome Res., 7, 339-352.
    • (1997) Genome Res. , vol.7 , pp. 339-352
    • DiDonato, C.J.1    Chen, X.N.2    Noya, D.3    Korenberg, J.R.4    Nadeau, J.H.5    Simard, L.R.6
  • 14
    • 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., Götz, R., Gunnersen, J.M., Ure, J.M., Toyka, K.V., Smith, A.G. and Sendtner, M. (1997) Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos. Proc. Natl Acad. Sci. USA, 94, 9920-9925.
    • (1997) Proc. Natl Acad. Sci. USA , vol.94 , pp. 9920-9925
    • Schrank, B.1    Götz, R.2    Gunnersen, J.M.3    Ure, J.M.4    Toyka, K.V.5    Smith, A.G.6    Sendtner, M.7
  • 15
    • 0019888362 scopus 로고
    • Bacteriophage Pl site-specific recombination. I. Recombination between loxP sites
    • Sternberg, N. and Hamilton, D. (1981) Bacteriophage Pl site-specific recombination. I. Recombination between loxP sites. J. Mol. Biol., 150, 467-486.
    • (1981) J. Mol. Biol. , vol.150 , pp. 467-486
    • Sternberg, N.1    Hamilton, D.2
  • 16
    • 0024041732 scopus 로고
    • Site-specific DNA recombination in mammalian cells by the Cre recombinase of bacteriophage Pl
    • Sauer, B. and Henderson, N. (1988) Site-specific DNA recombination in mammalian cells by the Cre recombinase of bacteriophage Pl. Proc. Natl Acad. Sci. USA, 85, 5166-5170.
    • (1988) Proc. Natl Acad. Sci. USA , vol.85 , pp. 5166-5170
    • Sauer, B.1    Henderson, N.2
  • 18
    • 0025063668 scopus 로고
    • Transgenic mice expressing β-galactosidase in mature neurons under neuron-specific enolase promoter control
    • Forss-Petter, S., Danielson, P.E., Catsicas, S., Battenberg, E., Price J., Nerenberg, M. and Sutcliffe, J.G. (1990) Transgenic mice expressing β-galactosidase in mature neurons under neuron-specific enolase promoter control. Neuron, 5, 187-197.
    • (1990) Neuron , vol.5 , pp. 187-197
    • Forss-Petter, S.1    Danielson, P.E.2    Catsicas, S.3    Battenberg, E.4    Price, J.5    Nerenberg, M.6    Sutcliffe, J.G.7
  • 19
    • 0025852299 scopus 로고
    • Human autoantibody to a novel protein of the nuclear coiled body: Immunological characterization and cDNA cloning of p80-coilin
    • Andrade, L.E., Chan, E.K., Raska, I., Peebles, C.L., Roos, G. and Tan, E.M. (1991) Human autoantibody to a novel protein of the nuclear coiled body: immunological characterization and cDNA cloning of p80-coilin. J. Exp. Med., 173, 1407-1419.
    • (1991) J. Exp. Med. , vol.173 , pp. 1407-1419
    • Andrade, L.E.1    Chan, E.K.2    Raska, I.3    Peebles, C.L.4    Roos, G.5    Tan, E.M.6
  • 20
    • 0000220374 scopus 로고
    • Infantile spinal muscular atrophy
    • Byers, R.K. and Banker, B.Q. (1961) Infantile spinal muscular atrophy. Arch. Neurol., 5, 140-164.
    • (1961) Arch. Neurol. , vol.5 , pp. 140-164
    • Byers, R.K.1    Banker, B.Q.2
  • 23
    • 0023387512 scopus 로고
    • Extracts of muscle biopsies from patients with spinal muscular atrophies inhibit neurite outgrowth from spinal neurons
    • Henderson, C.E., Hauser, S.L., Huchet, M., Dessi, F., Hentati, F., Taguchi, T., Changeux, J.P. and Fardeau, M. (1987) Extracts of muscle biopsies from patients with spinal muscular atrophies inhibit neurite outgrowth from spinal neurons. Neurology, 37, 1361-1364.
    • (1987) Neurology , vol.37 , pp. 1361-1364
    • Henderson, C.E.1    Hauser, S.L.2    Huchet, M.3    Dessi, F.4    Hentati, F.5    Taguchi, T.6    Changeux, J.P.7    Fardeau, M.8
  • 24
    • 0028947081 scopus 로고
    • Constitutive muscular abnormalities in culture in spinal muscular atrophy
    • Braun, S., Croizat, B., Lagrange, M.C., Warter, J.M. and Poindron, P. (1995) Constitutive muscular abnormalities in culture in spinal muscular atrophy. Lancet, 345, 694-695.
    • (1995) Lancet , vol.345 , pp. 694-695
    • Braun, S.1    Croizat, B.2    Lagrange, M.C.3    Warter, J.M.4    Poindron, P.5
  • 27
    • 0034639745 scopus 로고    scopus 로고
    • Reduced survival motor neuron (Smn) gene dosage in mice leads to motor neuron degeneration: An animal model for spinal muscular atrophy type III
    • Jablonka, S., Schrank, B., Kralewski, M., Rossoll, W. and Sendtner, M. (2000) Reduced survival motor neuron (Smn) gene dosage in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III. Hum. Mol. Genet., 8, 341-346.
    • (2000) Hum. Mol. Genet. , vol.8 , pp. 341-346
    • Jablonka, S.1    Schrank, B.2    Kralewski, M.3    Rossoll, W.4    Sendtner, M.5
  • 29
    • 0017579635 scopus 로고
    • Denervated skeletal muscle fibers develop discrete patches of high acetylcholine receptor density
    • Ko, P.K., Anderson, M.J. and Cohen, M.W. (1977) Denervated skeletal muscle fibers develop discrete patches of high acetylcholine receptor density. Science, 196, 540-542.
    • (1977) Science , vol.196 , pp. 540-542
    • Ko, P.K.1    Anderson, M.J.2    Cohen, M.W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.