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Volumn 136, Issue 6, 2013, Pages 1687-1689

Brain iron takes off: A new propeller protein links neurodegeneration with autophagy

Author keywords

[No Author keywords available]

Indexed keywords

IRON;

EID: 84878828447     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awt098     Document Type: Note
Times cited : (18)

References (13)
  • 1
    • 84863900133 scopus 로고
    • MECP2-related disorders
    • Pagon RA Bird TD Dolan CR Stephens K,Adam MP editors Seattle WA: University of Washington Seattle; Updated 28 June 2012
    • Christodoulou J, Ho G. MECP2-Related Disorders. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviewsTM [Internet]. Seattle, WA: University of Washington, Seattle; 1993. Updated 28 June 2012.
    • (1993) GeneReviewsTM [Internet]
    • Christodoulou, J.1    Ho, G.2
  • 2
    • 84895939859 scopus 로고
    • Neurodegeneration with brain iron accumulation disorders overview
    • Pagon RA Bird TD Dolan CR Stephens K Adam MP editors Seattle WA: University of Washington Seattle; Updated 28 February 2013a
    • Gregory A, Hayflick S. Neurodegeneration with brain iron accumulation disorders overview. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviewsTM [Internet]. Seattle, WA: University of Washington, Seattle; 1993. Updated 28 February 2013a.
    • (1993) Gene Reviews TM [Internet]
    • Gregory, A.1    Hayflick, S.2
  • 3
    • 79959509957 scopus 로고
    • Pantothenate kinase-associated neurodegeneration
    • Pagon RA Bird TD Dolan CR Stephens K Adam MP editors Seattle WA: University of Washington Seattle; Updated 31 January 2013b
    • Gregory A, Hayflick SJ. Pantothenate kinase-associated neurodegeneration. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviewsTM [Internet]. Seattle, WA: University of Washington, Seattle; 1993. Updated 31 January 2013b.
    • (1993) Gene Reviews TM [Internet]
    • Gregory, A.1    Hayflick, S.J.2
  • 4
    • 84870913730 scopus 로고    scopus 로고
    • Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA
    • Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, et al. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet 2012; 91: 1144-49.
    • (2012) Am J Hum Genet , vol.91 , pp. 1144-1149
    • Haack, T.B.1    Hogarth, P.2    Kruer, M.C.3    Gregory, A.4    Wieland, T.5    Schwarzmayr, T.6
  • 5
    • 80053916609 scopus 로고    scopus 로고
    • Absence of an orphan mitochondrial protein, C19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation
    • Hartig MB, Iuso A, Haack T, Kmiec T, Jurkiewicz E, Heim K, et al. Absence of an orphan mitochondrial protein, C19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. Am J Hum Genet 2011; 89: 543-50.
    • (2011) Am J Hum Genet , vol.89 , pp. 543-550
    • Hartig, M.B.1    Iuso, A.2    Haack, T.3    Kmiec, T.4    Jurkiewicz, E.5    Heim, K.6
  • 6
    • 84878841473 scopus 로고    scopus 로고
    • Beta-propeller protein-associated neurodegeneration: A new Xlinked dominant disorder with brain iron accumulation
    • doi:10.1093/brain/awt095
    • Hayflick SJ, Kruer MC, Gregory A, Haack TB, Kurian MA, Houlden HH, et al. Beta-propeller protein-associated neurodegeneration: a new Xlinked dominant disorder with brain iron accumulation. Brain 2013; doi:10.1093/brain/awt095.
    • (2013) Brain
    • Hayflick, S.J.1    Kruer, M.C.2    Gregory, A.3    Haack, T.B.4    Kurian, M.A.5    Houlden, H.H.6
  • 7
    • 84861698807 scopus 로고    scopus 로고
    • A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy
    • Horvath R, Holinski-Feder E, Neeve VC, Pyle A, Griffin H, Ashok D, et al. A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy. Mov Disord 2012; 27: 789-93.
    • (2012) Mov Disord , vol.27 , pp. 789-793
    • Horvath, R.1    Holinski-Feder, E.2    Neeve, V.C.3    Pyle, A.4    Griffin, H.5    Ashok, D.6
  • 8
    • 84864568526 scopus 로고    scopus 로고
    • Neuroferritinopathy: Update on clinical features and pathogenesis
    • McNeill A, Chinnery PF. Neuroferritinopathy: update on clinical features and pathogenesis. Curr Drug Targets 2012; 13: 1200-3.
    • (2012) Curr Drug Targets , vol.13 , pp. 1200-1203
    • McNeill, A.1    Chinnery, P.F.2
  • 9
    • 84867801862 scopus 로고    scopus 로고
    • Progressive brain iron accumulation in neuroferritinopathy measured by the thalamic T2 relaxation rate
    • McNeill A, Gorman G, Khan A, Horvath R, Blamire AM, Chinnery PF. Progressive brain iron accumulation in neuroferritinopathy measured by the thalamic T2 relaxation rate. AJNR Am J Neuroradiol 2012; 33: 1810-13.
    • (2012) AJNR Am J Neuroradiol , vol.33 , pp. 1810-1813
    • McNeill, A.1    Gorman, G.2    Khan, A.3    Horvath, R.4    Blamire, A.M.5    Chinnery, P.F.6
  • 11
    • 33745553895 scopus 로고    scopus 로고
    • PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
    • Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, et al. PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet 2006; 38: 752-4.
    • (2006) Nat Genet , vol.38 , pp. 752-754
    • Morgan, N.V.1    Westaway, S.K.2    Morton, J.E.3    Gregory, A.4    Gissen, P.5    Sonek, S.6
  • 12
    • 84870886343 scopus 로고    scopus 로고
    • Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis
    • Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, et al. Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. Am J Hum Genet 2012; 91: 1065-72.
    • (2012) Am J Hum Genet , vol.91 , pp. 1065-1072
    • Oz-Levi, D.1    Ben-Zeev, B.2    Ruzzo, E.K.3    Hitomi, Y.4    Gelman, A.5    Pelak, K.6
  • 13
    • 84875757691 scopus 로고    scopus 로고
    • De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood
    • Saitsu H, Nishimura T, Muramatsu K, Kodera H, Kumada S, Sugai K, et al. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet 2013; 45: 445-49.
    • (2013) Nat Genet , vol.45 , pp. 445-449
    • Saitsu, H.1    Nishimura, T.2    Muramatsu, K.3    Kodera, H.4    Kumada, S.5    Sugai, K.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.