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Volumn 7, Issue 5, 2012, Pages

Alternative splicing of Spg7, a gene involved in hereditary spastic paraplegia, encodes a variant of paraplegin targeted to the endoplasmic reticulum

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; PARAPLEGIN 2; UNCLASSIFIED DRUG; ADENOSINE TRIPHOSPHATE DEPENDENT PROTEINASE; AFG3L2 PROTEIN, MOUSE; ISOPROTEIN; METALLOPROTEINASE; SPG7 PROTEIN, MOUSE;

EID: 84860453878     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0036337     Document Type: Article
Times cited : (10)

References (36)
  • 1
    • 0027759812 scopus 로고
    • Hereditary spastic paraplegias
    • Harding AE, (1993) Hereditary spastic paraplegias. Semin Neurol 13: 333-336.
    • (1993) Semin Neurol , vol.13 , pp. 333-336
    • Harding, A.E.1
  • 2
    • 84871222310 scopus 로고    scopus 로고
    • In: Valle, Beaudet, Vogelstein, Kinzler, Antonarakis, editors, Scriver's Online Metabolic and Molecular Bases of Inherited Diseases
    • Reid E, Rugarli EI, (2010) Scriver's Online Metabolic and Molecular Bases of Inherited Diseases.
    • (2010)
    • Reid, E.1    Rugarli, E.I.2
  • 3
    • 0032511186 scopus 로고    scopus 로고
    • Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
    • Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, et al. (1998) Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93: 973-983.
    • (1998) Cell , vol.93 , pp. 973-983
    • Casari, G.1    De Fusco, M.2    Ciarmatori, S.3    Zeviani, M.4    Mora, M.5
  • 4
    • 0036241765 scopus 로고    scopus 로고
    • Hereditary Spastic Paraplegia SPG13 Is Associated with a Mutation in the Gene Encoding the Mitochondrial Chaperonin Hsp60
    • Hansen JJ, Durr A, Cournu-Rebeix I, Georgopoulos C, Ang D, et al. (2002) Hereditary Spastic Paraplegia SPG13 Is Associated with a Mutation in the Gene Encoding the Mitochondrial Chaperonin Hsp60. Am J Hum Genet 70: 1328-1332.
    • (2002) Am J Hum Genet , vol.70 , pp. 1328-1332
    • Hansen, J.J.1    Durr, A.2    Cournu-Rebeix, I.3    Georgopoulos, C.4    Ang, D.5
  • 5
    • 42049097275 scopus 로고    scopus 로고
    • A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia
    • Arnoldi A, Tonelli A, Crippa F, Villani G, Pacelli C, et al. (2008) A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. Hum Mutat 29: 522-531.
    • (2008) Hum Mutat , vol.29 , pp. 522-531
    • Arnoldi, A.1    Tonelli, A.2    Crippa, F.3    Villani, G.4    Pacelli, C.5
  • 6
    • 56149126723 scopus 로고    scopus 로고
    • Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes
    • Brugman F, Scheffer H, Wokke JH, Nillesen WM, de Visser M, et al. (2008) Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes. Neurology 71: 1500-1505.
    • (2008) Neurology , vol.71 , pp. 1500-1505
    • Brugman, F.1    Scheffer, H.2    Wokke, J.H.3    Nillesen, W.M.4    de Visser, M.5
  • 7
    • 33645883251 scopus 로고    scopus 로고
    • Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia
    • Elleuch N, Depienne C, Benomar A, Hernandez AM, Ferrer X, et al. (2006) Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. Neurology 66: 654-659.
    • (2006) Neurology , vol.66 , pp. 654-659
    • Elleuch, N.1    Depienne, C.2    Benomar, A.3    Hernandez, A.M.4    Ferrer, X.5
  • 8
    • 38549101188 scopus 로고    scopus 로고
    • Quality control of mitochondria: protection against neurodegeneration and ageing
    • Tatsuta T, Langer T, (2008) Quality control of mitochondria: protection against neurodegeneration and ageing. Embo J 27: 306-314.
    • (2008) Embo J , vol.27 , pp. 306-314
    • Tatsuta, T.1    Langer, T.2
  • 9
    • 26844484821 scopus 로고    scopus 로고
    • The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria
    • Nolden M, Ehses S, Koppen M, Bernacchia A, Rugarli EI, et al. (2005) The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria. Cell 123: 277-289.
    • (2005) Cell , vol.123 , pp. 277-289
    • Nolden, M.1    Ehses, S.2    Koppen, M.3    Bernacchia, A.4    Rugarli, E.I.5
  • 10
    • 0344736798 scopus 로고    scopus 로고
    • Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia
    • Atorino L, Silvestri L, Koppen M, Cassina L, Ballabio A, et al. (2003) Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J Cell Biol 163: 777-787.
    • (2003) J Cell Biol , vol.163 , pp. 777-787
    • Atorino, L.1    Silvestri, L.2    Koppen, M.3    Cassina, L.4    Ballabio, A.5
  • 11
    • 33846127778 scopus 로고    scopus 로고
    • Variable and Tissue-Specific Subunit Composition of Mitochondrial m-AAA Protease Complexes Linked to Hereditary Spastic Paraplegia
    • Koppen M, Metodiev MD, Casari G, Rugarli EI, Langer T, (2007) Variable and Tissue-Specific Subunit Composition of Mitochondrial m-AAA Protease Complexes Linked to Hereditary Spastic Paraplegia. Mol Cell Biol 27: 758-767.
    • (2007) Mol Cell Biol , vol.27 , pp. 758-767
    • Koppen, M.1    Metodiev, M.D.2    Casari, G.3    Rugarli, E.I.4    Langer, T.5
  • 12
    • 77950298030 scopus 로고    scopus 로고
    • Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28
    • Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, et al. (2010) Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nat Genet 42: 313-321.
    • (2010) Nat Genet , vol.42 , pp. 313-321
    • Di Bella, D.1    Lazzaro, F.2    Brusco, A.3    Plumari, M.4    Battaglia, G.5
  • 13
    • 80055087830 scopus 로고    scopus 로고
    • Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases
    • Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, et al. (2011) Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases. PLoS Genet 7: e1002325.
    • (2011) PLoS Genet , vol.7
    • Pierson, T.M.1    Adams, D.2    Bonn, F.3    Martinelli, P.4    Cherukuri, P.F.5
  • 14
    • 0035878402 scopus 로고    scopus 로고
    • Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein
    • Kremmidiotis G, Gardner AE, Settasatian C, Savoia A, Sutherland GR, et al. (2001) Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein. Genomics 76: 58-65.
    • (2001) Genomics , vol.76 , pp. 58-65
    • Kremmidiotis, G.1    Gardner, A.E.2    Settasatian, C.3    Savoia, A.4    Sutherland, G.R.5
  • 15
    • 1342310772 scopus 로고    scopus 로고
    • Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport
    • Ferreirinha F, Quattrini A, Pirozzi M, Valsecchi V, Dina G, et al. (2004) Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. J Clin Invest 113: 231-242.
    • (2004) J Clin Invest , vol.113 , pp. 231-242
    • Ferreirinha, F.1    Quattrini, A.2    Pirozzi, M.3    Valsecchi, V.4    Dina, G.5
  • 16
    • 31044456528 scopus 로고    scopus 로고
    • Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia
    • Pirozzi M, Quattrini A, Andolfi G, Dina G, Malaguti MC, et al. (2006) Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia. J Clin Invest 116: 202-208.
    • (2006) J Clin Invest , vol.116 , pp. 202-208
    • Pirozzi, M.1    Quattrini, A.2    Andolfi, G.3    Dina, G.4    Malaguti, M.C.5
  • 17
    • 0037089070 scopus 로고    scopus 로고
    • Trafficking of tail-anchored proteins: transport from the endoplasmic reticulum to the plasma membrane and sorting between surface domains in polarised epithelial cells
    • Bulbarelli A, Sprocati T, Barberi M, Pedrazzini E, Borgese N, (2002) Trafficking of tail-anchored proteins: transport from the endoplasmic reticulum to the plasma membrane and sorting between surface domains in polarised epithelial cells. J Cell Sci 115: 1689-1702.
    • (2002) J Cell Sci , vol.115 , pp. 1689-1702
    • Bulbarelli, A.1    Sprocati, T.2    Barberi, M.3    Pedrazzini, E.4    Borgese, N.5
  • 18
    • 34250663574 scopus 로고    scopus 로고
    • The fluorescence protease protection (FPP) assay to determine protein localization and membrane topology
    • Lorenz H, Hailey DW, Wunder C, Lippincott-Schwartz J, (2006) The fluorescence protease protection (FPP) assay to determine protein localization and membrane topology. Nat Protoc 1: 276-279.
    • (2006) Nat Protoc , vol.1 , pp. 276-279
    • Lorenz, H.1    Hailey, D.W.2    Wunder, C.3    Lippincott-Schwartz, J.4
  • 19
    • 70350230142 scopus 로고    scopus 로고
    • Autocatalytic Processing of m-AAA Protease Subunits in Mitochondria
    • Koppen M, Bonn F, Ehses S, Langer T, (2009) Autocatalytic Processing of m-AAA Protease Subunits in Mitochondria. Mol Biol Cell.
    • (2009) Mol Biol Cell
    • Koppen, M.1    Bonn, F.2    Ehses, S.3    Langer, T.4
  • 20
    • 69749089007 scopus 로고    scopus 로고
    • An intersubunit signaling network coordinates ATP hydrolysis by m-AAA proteases
    • Augustin S, Gerdes F, Lee S, Tsai FT, Langer T, et al. (2009) An intersubunit signaling network coordinates ATP hydrolysis by m-AAA proteases. Mol Cell 35: 574-585.
    • (2009) Mol Cell , vol.35 , pp. 574-585
    • Augustin, S.1    Gerdes, F.2    Lee, S.3    Tsai, F.T.4    Langer, T.5
  • 21
    • 0031973716 scopus 로고    scopus 로고
    • The AAA team: related ATPases with diverse functions
    • Patel S, Latterich M, (1998) The AAA team: related ATPases with diverse functions. Trends Cell Biol 8: 65-71.
    • (1998) Trends Cell Biol , vol.8 , pp. 65-71
    • Patel, S.1    Latterich, M.2
  • 22
    • 79959389010 scopus 로고    scopus 로고
    • AAA+ proteases: ATP-fueled machines of protein destruction
    • Sauer RT, Baker TA, (2011) AAA+ proteases: ATP-fueled machines of protein destruction. Annu Rev Biochem 80: 587-612.
    • (2011) Annu Rev Biochem , vol.80 , pp. 587-612
    • Sauer, R.T.1    Baker, T.A.2
  • 23
    • 34250899722 scopus 로고    scopus 로고
    • Signal integration in the endoplasmic reticulum unfolded protein response
    • Ron D, Walter P, (2007) Signal integration in the endoplasmic reticulum unfolded protein response. Nat Rev Mol Cell Biol 8: 519-529.
    • (2007) Nat Rev Mol Cell Biol , vol.8 , pp. 519-529
    • Ron, D.1    Walter, P.2
  • 24
    • 43149096666 scopus 로고    scopus 로고
    • The recognition and retrotranslocation of misfolded proteins from the endoplasmic reticulum
    • Nakatsukasa K, Brodsky JL, (2008) The recognition and retrotranslocation of misfolded proteins from the endoplasmic reticulum. Traffic 9: 861-870.
    • (2008) Traffic , vol.9 , pp. 861-870
    • Nakatsukasa, K.1    Brodsky, J.L.2
  • 25
    • 33746228127 scopus 로고    scopus 로고
    • Distinct ubiquitin-ligase complexes define convergent pathways for the degradation of ER proteins
    • Carvalho P, Goder V, Rapoport TA, (2006) Distinct ubiquitin-ligase complexes define convergent pathways for the degradation of ER proteins. Cell 126: 361-373.
    • (2006) Cell , vol.126 , pp. 361-373
    • Carvalho, P.1    Goder, V.2    Rapoport, T.A.3
  • 26
    • 64749087257 scopus 로고    scopus 로고
    • Misfolded membrane proteins are specifically recognized by the transmembrane domain of the Hrd1p ubiquitin ligase
    • Sato BK, Schulz D, Do PH, Hampton RY, (2009) Misfolded membrane proteins are specifically recognized by the transmembrane domain of the Hrd1p ubiquitin ligase. Mol Cell 34: 212-222.
    • (2009) Mol Cell , vol.34 , pp. 212-222
    • Sato, B.K.1    Schulz, D.2    Do, P.H.3    Hampton, R.Y.4
  • 27
    • 2442542546 scopus 로고    scopus 로고
    • A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia
    • Wilkinson PA, Crosby AH, Turner C, Bradley LJ, Ginsberg L, et al. (2004) A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. Brain 127: 973-980.
    • (2004) Brain , vol.127 , pp. 973-980
    • Wilkinson, P.A.1    Crosby, A.H.2    Turner, C.3    Bradley, L.J.4    Ginsberg, L.5
  • 28
    • 78650415043 scopus 로고    scopus 로고
    • Hereditary spastic paraplegias: membrane traffic and the motor pathway
    • Blackstone C, O'Kane CJ, Reid E, (2011) Hereditary spastic paraplegias: membrane traffic and the motor pathway. Nat Rev Neurosci 12: 31-42.
    • (2011) Nat Rev Neurosci , vol.12 , pp. 31-42
    • Blackstone, C.1    O'Kane, C.J.2    Reid, E.3
  • 29
    • 77951172861 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network
    • Park SH, Zhu PP, Parker RL, Blackstone C, (2010) Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. J Clin Invest 120: 1097-1110.
    • (2010) J Clin Invest , vol.120 , pp. 1097-1110
    • Park, S.H.1    Zhu, P.P.2    Parker, R.L.3    Blackstone, C.4
  • 30
    • 58149396830 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism
    • Zhao J, Matthies DS, Botzolakis EJ, Macdonald RL, Blakely RD, et al. (2008) Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism. J Neurosci 28: 13938-13951.
    • (2008) J Neurosci , vol.28 , pp. 13938-13951
    • Zhao, J.1    Matthies, D.S.2    Botzolakis, E.J.3    Macdonald, R.L.4    Blakely, R.D.5
  • 31
    • 47149091817 scopus 로고    scopus 로고
    • Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17
    • Ito D, Fujisawa T, Iida H, Suzuki N, (2008) Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17. Neurobiol Dis 31: 266-277.
    • (2008) Neurobiol Dis , vol.31 , pp. 266-277
    • Ito, D.1    Fujisawa, T.2    Iida, H.3    Suzuki, N.4
  • 32
    • 0034611011 scopus 로고    scopus 로고
    • Mechanism of residence of cytochrome b(5), a tail-anchored protein, in the endoplasmic reticulum
    • Pedrazzini E, Villa A, Longhi R, Bulbarelli A, Borgese N, (2000) Mechanism of residence of cytochrome b(5), a tail-anchored protein, in the endoplasmic reticulum. J Cell Biol 148: 899-914.
    • (2000) J Cell Biol , vol.148 , pp. 899-914
    • Pedrazzini, E.1    Villa, A.2    Longhi, R.3    Bulbarelli, A.4    Borgese, N.5
  • 33
    • 33746299692 scopus 로고    scopus 로고
    • Regulation of mitochondrial morphology through proteolytic cleavage of OPA1
    • Ishihara N, Fujita Y, Oka T, Mihara K, (2006) Regulation of mitochondrial morphology through proteolytic cleavage of OPA1. Embo J 25: 2966-2977.
    • (2006) Embo J , vol.25 , pp. 2966-2977
    • Ishihara, N.1    Fujita, Y.2    Oka, T.3    Mihara, K.4
  • 34
    • 76149140917 scopus 로고    scopus 로고
    • Regulation of OPA1 processing and mitochondrial fusion by m-AAA protease isoenzymes and OMA1
    • Ehses S, Raschke I, Mancuso G, Bernacchia A, Geimer S, et al. (2009) Regulation of OPA1 processing and mitochondrial fusion by m-AAA protease isoenzymes and OMA1. J Cell Biol 187: 1023-1036.
    • (2009) J Cell Biol , vol.187 , pp. 1023-1036
    • Ehses, S.1    Raschke, I.2    Mancuso, G.3    Bernacchia, A.4    Geimer, S.5
  • 35
    • 0026465350 scopus 로고
    • Neuroblastoma×spinal cord (NSC) hybrid cell lines resemble developing motor neurons
    • Cashman NR, Durham HD, Blusztajn JK, Oda K, Tabira T, et al. (1992) Neuroblastoma×spinal cord (NSC) hybrid cell lines resemble developing motor neurons. Dev Dyn 194: 209-221.
    • (1992) Dev Dyn , vol.194 , pp. 209-221
    • Cashman, N.R.1    Durham, H.D.2    Blusztajn, J.K.3    Oda, K.4    Tabira, T.5
  • 36
    • 0037081740 scopus 로고    scopus 로고
    • Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics
    • Errico A, Ballabio A, Rugarli EI, (2002) Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum Mol Genet 11: 153-163.
    • (2002) Hum Mol Genet , vol.11 , pp. 153-163
    • Errico, A.1    Ballabio, A.2    Rugarli, E.I.3


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