메뉴 건너뛰기




Volumn 7, Issue 5, 1999, Pages 519-525

Analysis of mutations in the tudor domain of the survival motor neuron protein SMN

Author keywords

Gemini of coiled bodies; Spinal muscular atrophy; Survival motor neuron; Tudor domains

Indexed keywords

MUTANT PROTEIN; NUCLEAR PROTEIN;

EID: 0032794358     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200346     Document Type: Article
Times cited : (24)

References (18)
  • 1
    • 0018238065 scopus 로고
    • Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy
    • Pearn J: Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet 1978; 15: 409-413.
    • (1978) J Med Genet , vol.15 , pp. 409-413
    • Pearn, J.1
  • 2
    • 44949282843 scopus 로고
    • Workshop report: International SMA collaboration
    • Munsat TL: Workshop report: international SMA collaboration. Neuromusc Disord 1991; 1: 81.
    • (1991) Neuromusc Disord , vol.1 , pp. 81
    • Munsat, T.L.1
  • 4
    • 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
  • 5
    • 0028896092 scopus 로고
    • The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy
    • Roy N, Mahadevan MS, McLean M et al: The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 1995; 80: 167-178.
    • (1995) Cell , vol.80 , pp. 167-178
    • Roy, N.1    Mahadevan, M.S.2    McLean, M.3
  • 6
    • 0028905919 scopus 로고
    • Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy
    • Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE: Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet 1995; 4: 631-634.
    • (1995) Hum Mol Genet , vol.4 , pp. 631-634
    • Rodrigues, N.R.1    Owen, N.2    Talbot, K.3    Ignatius, J.4    Dubowitz, V.5    Davies, K.E.6
  • 7
    • 0030863569 scopus 로고    scopus 로고
    • When is a deletion not a deletion? When it is converted
    • Burghes AHM: When is a deletion not a deletion? When it is converted. Am J Hum Genet 1997; 61: 9-15.
    • (1997) Am J Hum Genet , vol.61 , pp. 9-15
    • Burghes, A.H.M.1
  • 8
    • 0031044279 scopus 로고    scopus 로고
    • Missense mutation clustering in the survival motor neuron gene: A role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?
    • Talbot K, Ponting CP, Theodosiou AM et al: Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism? Hum Mol Genet 1997; 6: 497-500.
    • (1997) Hum Mol Genet , vol.6 , pp. 497-500
    • Talbot, K.1    Ponting, C.P.2    Theodosiou, A.M.3
  • 9
    • 0031800695 scopus 로고    scopus 로고
    • SMN oligomerisation defect correlates with spinal muscular atrophy severity
    • Lorson CL, Strasswimmer J, Yao J-M et al: SMN oligomerisation 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
  • 10
    • 0029954338 scopus 로고    scopus 로고
    • A novel nuclear structure containing the survival of motor neurons protein
    • Liu Q, Dreyfuss G: A novel nuclear structure containing the survival of motor neurons protein. EMBO J 1996; 15: 3555-3565.
    • (1996) EMBO J , vol.15 , pp. 3555-3565
    • Liu, Q.1    Dreyfuss, G.2
  • 11
    • 0030928716 scopus 로고    scopus 로고
    • The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis
    • Fischer U, Liu Q, Dreyfuss G: The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. Cell 1997; 90: 1023-1029.
    • (1997) Cell , vol.90 , pp. 1023-1029
    • Fischer, U.1    Liu, Q.2    Dreyfuss, G.3
  • 12
    • 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, 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    Dreyfuss, G.3
  • 13
    • 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, Dreyfuss G: A novel function for SMN, the Spinal Muscular Atrophy disease gene product, in Pre-mRNA splicing. Cell 1998; 95: 615-624.
    • (1998) Cell , vol.95 , pp. 615-624
    • Pellizzoni, L.1    Kataoka, N.2    Charroux, B.3    Dreyfuss, G.4
  • 14
    • 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
  • 15
    • 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
  • 16
    • 0031442184 scopus 로고    scopus 로고
    • Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy
    • Iwahashi H, Eguchi Y, Yasuhara N, Hanafusa T, Matsuzawa Y, Tsujimoto Y: Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy. Nature 1997; 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
  • 17
    • 0031081575 scopus 로고    scopus 로고
    • Tudor domains in proteins that interact with RNA
    • Ponting C: Tudor domains in proteins that interact with RNA. Trend Biochem Sci 1997; 22: 51-52.
    • (1997) Trend Biochem Sci , vol.22 , pp. 51-52
    • Ponting, C.1
  • 18
    • 0031759799 scopus 로고    scopus 로고
    • Characterisation of a gene encoding Survival Motor Neuron (SMN)-related protein, a constituent of the spliceosome complex
    • Talbot K, Miguel-Aliaga I, Mohaghegh P, Ponting CP, Davies KE: Characterisation of a gene encoding Survival Motor Neuron (SMN)-related protein, a constituent of the spliceosome complex. Hum Mol Genet 1998; 7: 2149-2156.
    • (1998) Hum Mol Genet , vol.7 , pp. 2149-2156
    • Talbot, K.1    Miguel-Aliaga, I.2    Mohaghegh, P.3    Ponting, C.P.4    Davies, K.E.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.