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Volumn 35, Issue 3, 2014, Pages 726.e7-726.e9

SQSTM1 mutations in Han Chinese populations with sporadic amyotrophic lateral sclerosis

Author keywords

Amyotrophic lateral sclerosis; Mutation; Sequestosome 1 gene

Indexed keywords

ASPARTIC ACID; GLUTAMIC ACID; ISOLEUCINE; LEUCINE; VALINE;

EID: 84889579061     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2013.09.008     Document Type: Article
Times cited : (38)

References (17)
  • 2
    • 80755133370 scopus 로고    scopus 로고
    • Clinical genetics of amyotrophic lateral sclerosis: what do we really know?
    • Andersen P.M., Al-Chalabi A. Clinical genetics of amyotrophic lateral sclerosis: what do we really know?. Nat. Rev. Neurol. 2011, 7:603-615. 10.1038/nrneurol.2011.150.
    • (2011) Nat. Rev. Neurol. , vol.7 , pp. 603-615
    • Andersen, P.M.1    Al-Chalabi, A.2
  • 3
    • 27944504351 scopus 로고    scopus 로고
    • P62/SQSTM1 forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death
    • Bjorkoy G., Lamark T., Brech A., Outzen H., Perander M., Overvatn A., Stenmark H., Johansen T. p62/SQSTM1 forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death. J.Cell. Biol. 2005, 171:603-614. 10.1083/jcb.200507002.
    • (2005) J.Cell. Biol. , vol.171 , pp. 603-614
    • Bjorkoy, G.1    Lamark, T.2    Brech, A.3    Outzen, H.4    Perander, M.5    Overvatn, A.6    Stenmark, H.7    Johansen, T.8
  • 10
    • 84896545244 scopus 로고    scopus 로고
    • Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB
    • Kwok C.T., Morris A., de Belleroche J.S. Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB. Eur. J. Hum. Genet. 2013, 10.1038/ejhg.2013.184.
    • (2013) Eur. J. Hum. Genet.
    • Kwok, C.T.1    Morris, A.2    de Belleroche, J.S.3
  • 11
    • 0036094026 scopus 로고    scopus 로고
    • Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone
    • Laurin N., Brown J.P., Morissette J., Raymond V. Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. Am. J. Hum. Genet. 2002, 70:1582-1588. 10.1086/340731.
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 1582-1588
    • Laurin, N.1    Brown, J.P.2    Morissette, J.3    Raymond, V.4
  • 12
    • 34250209501 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis
    • Mitchell J.D., Borasio G.D. Amyotrophic lateral sclerosis. Lancet 2007, 369:2031-2041. 10.1016/s0140-6736(07)60944-1.
    • (2007) Lancet , vol.369 , pp. 2031-2041
    • Mitchell, J.D.1    Borasio, G.D.2
  • 13
    • 34247861003 scopus 로고    scopus 로고
    • Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone
    • Morissette J., Laurin N., Brown J.P. Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone. J.Bone Miner. Res. 2006, 21:P38-P44. 10.1359/jbmr.06s207.
    • (2006) J.Bone Miner. Res. , vol.21
    • Morissette, J.1    Laurin, N.2    Brown, J.P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.