메뉴 건너뛰기




Volumn 9, Issue 2, 2014, Pages

Impairment of Drosophila orthologs of the human orphan protein C19orf12 induces bang sensitivity and neurodegeneration

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; ORPHAN PROTEIN C19ORF12; UNCLASSIFIED DRUG; C19ORF12 PROTEIN, HUMAN; DROSOPHILA PROTEIN; MITOCHONDRIAL PROTEIN;

EID: 84896778537     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0089439     Document Type: Article
Times cited : (31)

References (25)
  • 1
    • 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, et al. (2011) Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. Am J Hum Genet 89: 543-550.
    • (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
  • 2
    • 84862311702 scopus 로고    scopus 로고
    • C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation
    • Panteghini C, Zorzi G, Venco P, Dusi S, Reale C, et al. (2012) C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation. Semin Pediatr Neurol 19: 75-81.
    • (2012) Semin Pediatr Neurol , vol.19 , pp. 75-81
    • Panteghini, C.1    Zorzi, G.2    Venco, P.3    Dusi, S.4    Reale, C.5
  • 3
    • 84873649203 scopus 로고    scopus 로고
    • New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN
    • Hogarth P, Gregory A, Kruer MC, Sanford L, Wagoner W, et al. (2013) New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. Neurology 80: 268-275.
    • (2013) Neurology , vol.80 , pp. 268-275
    • Hogarth, P.1    Gregory, A.2    Kruer, M.C.3    Sanford, L.4    Wagoner, W.5
  • 4
    • 84868206031 scopus 로고    scopus 로고
    • C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis
    • Deschauer M, Gaul C, Behrmann C, Prokisch H, Zierz S, et al. (2012) C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis. J Neurol 259: 2434-2439.
    • (2012) J Neurol , vol.259 , pp. 2434-2439
    • Deschauer, M.1    Gaul, C.2    Behrmann, C.3    Prokisch, H.4    Zierz, S.5
  • 5
    • 84883789623 scopus 로고    scopus 로고
    • Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration
    • Dogu O, Krebs CE, Kaleagasi H, Demirtas Z, Oksuz N, et al. (2012) Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration. Clin Genet 84: 350-355.
    • (2012) Clin Genet , vol.84 , pp. 350-355
    • Dogu, O.1    Krebs, C.E.2    Kaleagasi, H.3    Demirtas, Z.4    Oksuz, N.5
  • 6
    • 84874202364 scopus 로고    scopus 로고
    • PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation
    • Dezfouli MA, Alavi A, Rohani M, Rezvani M, Nekuie T, et al. (2013) PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation. Mov Disord 28: 228-232.
    • (2013) Mov Disord , vol.28 , pp. 228-232
    • Dezfouli, M.A.1    Alavi, A.2    Rohani, M.3    Rezvani, M.4    Nekuie, T.5
  • 7
    • 84884715844 scopus 로고    scopus 로고
    • Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation
    • Goldman JG, Eichenseer SR, Berry-Kravis E, Zimnowodzki S, Gregory A, et al. (2013) Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation. Mov Disord 28: 1462-1463.
    • (2013) Mov Disord , vol.28 , pp. 1462-1463
    • Goldman, J.G.1    Eichenseer, S.R.2    Berry-Kravis, E.3    Zimnowodzki, S.4    Gregory, A.5
  • 8
    • 84893001853 scopus 로고    scopus 로고
    • A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy
    • Schottmann G, Stenzel W, Lutzkendorf S, Schuelke M, Knierim E (2013) A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy. Clin Genet.
    • (2013) Clin Genet
    • Schottmann, G.1    Stenzel, W.2    Lutzkendorf, S.3    Schuelke, M.4    Knierim, E.5
  • 9
    • 84874206340 scopus 로고    scopus 로고
    • Mitochondrial membrane protein associated neurodegenration: A novel variant of neurodegeneration with brain iron accumulation
    • Schulte EC, Claussen MC, Jochim A, Haack T, Hartig M, et al. (2013) Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation. Mov Disord 28: 224-227.
    • (2013) Mov Disord , vol.28 , pp. 224-227
    • Schulte, E.C.1    Claussen, M.C.2    Jochim, A.3    Haack, T.4    Hartig, M.5
  • 10
    • 45749083772 scopus 로고    scopus 로고
    • De novo CoA biosynthesis is required to maintain DNA integrity during development of the Drosophila nervous system
    • DOI 10.1093/hmg/ddn105
    • Bosveld F, Rana A, van der Wouden PE, Lemstra W, Ritsema M, et al. (2008) De novo CoA biosynthesis is required to maintain DNA integrity during development of the Drosophila nervous system. Hum Mol Genet 17: 2058-2069. (Pubitemid 351865854)
    • (2008) Human Molecular Genetics , vol.17 , Issue.13 , pp. 2058-2069
    • Bosveld, F.1    Rana, A.2    Van Der, W.P.E.3    Lemstra, W.4    Ritsema, M.5    Kampinga, H.H.6    Sibon, O.C.M.7
  • 11
    • 70350774174 scopus 로고    scopus 로고
    • Pantothenate kinase-associated neurodegeneration: Insights from a Drosophila model
    • Wu Z, Li C, Lv S, Zhou B (2009) Pantothenate kinase-associated neurodegeneration: insights from a Drosophila model. Hum Mol Genet 18: 3659-3672.
    • (2009) Hum Mol Genet , vol.18 , pp. 3659-3672
    • Wu, Z.1    Li, C.2    Lv, S.3    Zhou, B.4
  • 12
    • 77951055908 scopus 로고    scopus 로고
    • Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration
    • Rana A, Seinen E, Siudeja K, Muntendam R, Srinivasan B, et al. (2010) Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration. Proc Natl Acad Sci U S A 107: 6988-6993.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , pp. 6988-6993
    • Rana, A.1    Seinen, E.2    Siudeja, K.3    Muntendam, R.4    Srinivasan, B.5
  • 13
    • 34547584314 scopus 로고    scopus 로고
    • Advantages of combined transmembrane topology and signal peptide prediction - The Phobius web server
    • Kall L, Krogh A, Sonnhammer EL (2007) Advantages of combined transmembrane topology and signal peptide prediction-the Phobius web server. Nucleic Acids Res 35: W429-432.
    • (2007) Nucleic Acids Res , vol.35
    • Kall, L.1    Krogh, A.2    Sonnhammer, E.L.3
  • 15
    • 84895939859 scopus 로고    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
    • Gregory A, Hayflick S (2013) Neurodegeneration with Brain Iron Accumulation Disorders Overview. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews Seattle (WA): University of Washington, Seattle; 1993-2013.
    • (2013) GeneReviews , pp. 1993-2013
    • Gregory, A.1    Hayflick, S.2
  • 17
    • 15244351250 scopus 로고    scopus 로고
    • Loss of Swiss cheese/neuropathy target esterase activity causes disruption of phosphatidylcholine homeostasis and neuronal and glial death in adult Drosophila
    • DOI 10.1523/JNEUROSCI.5097-04.2005
    • Muhlig-Versen M, da Cruz AB, Tschape JA, Moser M, Buttner R, et al. (2005) Loss of Swiss cheese/neuropathy target esterase activity causes disruption of phosphatidylcholine homeostasis and neuronal and glial death in adult Drosophila. J Neurosci 25: 2865-2873. (Pubitemid 40389244)
    • (2005) Journal of Neuroscience , vol.25 , Issue.11 , pp. 2865-2873
    • Muhlig-Versen, M.1    Da, C.A.B.2    Tschape, J.-A.3    Moser, M.4    Buttner, R.5    Athenstaedt, K.6    Glynn, P.7    Kreizschmar, D.8
  • 18
    • 0030864464 scopus 로고    scopus 로고
    • The Swiss cheese mutant causes glial hyperwrapping and brain degeneration in Drosophila
    • Kretzschmar D, Hasan G, Sharma S, Heisenberg M, Benzer S (1997) The swiss cheese mutant causes glial hyperwrapping and brain degeneration in Drosophila. J Neurosci 17: 7425-7432. (Pubitemid 27413273)
    • (1997) Journal of Neuroscience , vol.17 , Issue.19 , pp. 7425-7432
    • Kretzschmar, D.1    Hasan, G.2    Sharma, S.3    Heisenberg, M.4    Benzer, S.5
  • 19
    • 84870159570 scopus 로고    scopus 로고
    • Probing mechanisms that underlie human neurodegenerative diseases in Drosophila
    • Jaiswal M, Sandoval H, Zhang K, Bayat V, Bellen HJ (2012) Probing mechanisms that underlie human neurodegenerative diseases in Drosophila. Annu Rev Genet 46: 371-396.
    • (2012) Annu Rev Genet , vol.46 , pp. 371-396
    • Jaiswal, M.1    Sandoval, H.2    Zhang, K.3    Bayat, V.4    Bellen, H.J.5
  • 20
    • 0036468432 scopus 로고    scopus 로고
    • Chaperone suppression of alpha-synuclein toxicity in a Drosophila model for Parkinson's disease
    • DOI 10.1126/science.1067389
    • Auluck PK, Chan HY, Trojanowski JQ, Lee VM, Bonini NM (2002) Chaperone suppression of alpha-synuclein toxicity in a Drosophila model for Parkinson's disease. Science 295: 865-868. (Pubitemid 34118369)
    • (2002) Science , vol.295 , Issue.5556 , pp. 865-868
    • Auluck, P.K.1    Chan, H.Y.E.2    Trojanowski, J.Q.3    Lee, V.M.-Y.4    Bonini, N.M.5
  • 22
    • 84878272993 scopus 로고    scopus 로고
    • The Drosophila homologue of the amyloid precursor protein is a conserved modulator of Wnt PCP signaling
    • Soldano A, Okray Z, Janovska P, Tmejova K, Reynaud E, et al. (2013) The Drosophila homologue of the amyloid precursor protein is a conserved modulator of Wnt PCP signaling. PLoS Biol 11: e1001562.
    • (2013) PLoS Biol , vol.11
    • Soldano, A.1    Okray, Z.2    Janovska, P.3    Tmejova, K.4    Reynaud, E.5
  • 23
    • 0032168160 scopus 로고    scopus 로고
    • Polyglutamine-expanded human huntingtin transgenes induce degeneration of Drosophila photoreceptor neurons
    • DOI 10.1016/S0896-6273(00)80573-5
    • Jackson GR, Salecker I, Dong X, Yao X, Arnheim N, et al. (1998) Polyglutamine-expanded human huntingtin transgenes induce degeneration of Drosophila photoreceptor neurons. Neuron 21: 633-642. (Pubitemid 28475514)
    • (1998) Neuron , vol.21 , Issue.3 , pp. 633-642
    • Jackson, G.R.1    Salecker, I.2    Dong, X.3    Yao, X.4    Arnheim, N.5    Faber, P.W.6    MacDonald, M.E.7    Zipursky, S.L.8
  • 24
    • 0000064419 scopus 로고
    • Behavioral mutants of Drosophila isolated by counter-current distribution
    • Benzer S (1967) Behavioral mutants of Drosophila isolated by counter-current distribution. Proc Natl Acad Sci U S A 58: 1112-1119.
    • (1967) Proc Natl Acad Sci U S A , vol.58 , pp. 1112-1119
    • Benzer, S.1
  • 25
    • 0036859943 scopus 로고    scopus 로고
    • The Drosophila slamdance gene: A mutation in an aminopeptidase can cause seizure, paralysis and neuronal failure
    • Zhang H, Tan J, Reynolds E, Kuebler D, Faulhaber S, et al. (2002) The Drosophila slamdance gene: a mutation in an aminopeptidase can cause seizure, paralysis and neuronal failure. Genetics 162: 1283-1299. (Pubitemid 35417519)
    • (2002) Genetics , vol.162 , Issue.3 , pp. 1283-1299
    • Zhang, H.1    Tan, J.2    Reynolds, E.3    Kuebler, D.4    Faulhaber, S.5    Tanouye, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.