메뉴 건너뛰기




Volumn 10, Issue 2, 2014, Pages

Canine Hereditary Ataxia in Old English Sheepdogs and Gordon Setters Is Associated with a Defect in the Autophagy Gene Encoding RAB24

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; AUTOPHAGOSOME; CFA4 GENE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE; GENE EXPRESSION REGULATION; GENE LOCATION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEREDITARY ATAXIA; HISTOPATHOLOGY; HOMOZYGOSITY; IMMUNOHISTOCHEMISTRY; LINKAGE ANALYSIS; MALE; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; NONHUMAN; PHENOTYPIC VARIATION; PURKINJE CELL; QUANTITATIVE ANALYSIS; RAB24 GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SEQUENCE; SEGREGATION ANALYSIS; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; ANIMAL; AUTOPHAGY; CEREBELLUM CORTEX; CHROMOSOME MAP; DOG; DOG DISEASE; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN; MOUSE; MUTATION; PATHOLOGY; SPINOCEREBELLAR DEGENERATIONS;

EID: 84901741490     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1003991     Document Type: Article
Times cited : (32)

References (77)
  • 1
    • 79957594670 scopus 로고    scopus 로고
    • Milestones in ataxia
    • Klockgether T, (2011) Paulson H, (2011) Milestones in ataxia. Mov Disord 26: 1134-1141.
    • (2011) Mov Disord , vol.26 , pp. 1134-1141
    • Klockgether, T.1    Paulson, H.2
  • 2
    • 79961146606 scopus 로고    scopus 로고
    • Sporadic adult-onset ataxia of unknown etiology
    • Klockgether T, (2012) Sporadic adult-onset ataxia of unknown etiology. Handb Clin Neurol 103: 253-262.
    • (2012) Handb Clin Neurol , vol.103 , pp. 253-262
    • Klockgether, T.1
  • 3
    • 84865164599 scopus 로고    scopus 로고
    • The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics
    • Hersheson J, Haworth A, (2012) Houlden H, (2012) The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics. Hum Mutat 33: 1324-1332.
    • (2012) Hum Mutat , vol.33 , pp. 1324-1332
    • Hersheson, J.1    Haworth, A.2    Houlden, H.3
  • 4
    • 0011093279 scopus 로고    scopus 로고
    • Hereditary Ataxia Overview
    • In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors, Seattle: University of Washington
    • Bird TD (2013) Hereditary Ataxia Overview. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews. Seattle: University of Washington.
    • (2013) GeneReviews
    • Bird, T.D.1
  • 6
    • 17844392364 scopus 로고    scopus 로고
    • The pathogenesis of spinocerebellar ataxia
    • Koeppen AH, (2005) The pathogenesis of spinocerebellar ataxia. Cerebellum 4: 62-73.
    • (2005) Cerebellum , vol.4 , pp. 62-73
    • Koeppen, A.H.1
  • 7
    • 0035503901 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 6: Channelopathy or glutamine repeat disorder?
    • Frontali M, (2001) Spinocerebellar ataxia type 6: Channelopathy or glutamine repeat disorder? Brain Res Bull 56: 227-231.
    • (2001) Brain Res Bull , vol.56 , pp. 227-231
    • Frontali, M.1
  • 8
    • 0037219826 scopus 로고    scopus 로고
    • A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]
    • van Swieten JC, Brusse E, de Graaf BM, Krieger E, van de Graaf R, et al. (2003) A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. Am J Hum Genet 72: 191-199.
    • (2003) Am J Hum Genet , vol.72 , pp. 191-199
    • van Swieten, J.C.1    Brusse, E.2    de Graaf, B.M.3    Krieger, E.4    van de Graaf, R.5
  • 10
    • 0025140121 scopus 로고
    • Abiotrophy in domestic animals: A review
    • de Lahunta A, (1990) Abiotrophy in domestic animals: A review. Can J Vet Res 54: 65-76.
    • (1990) Can J Vet Res , vol.54 , pp. 65-76
    • de Lahunta, A.1
  • 11
    • 84866426316 scopus 로고    scopus 로고
    • Mapping of Purkinje neuron loss and polyglucosan body accumulation in hereditary cerebellar degeneration in scottish terriers
    • Urkasemsin G, Linder KE, Bell JS, de Lahunta A, Olby NJ, (2012) Mapping of Purkinje neuron loss and polyglucosan body accumulation in hereditary cerebellar degeneration in scottish terriers. Vet Pathol 49: 852-859.
    • (2012) Vet Pathol , vol.49 , pp. 852-859
    • Urkasemsin, G.1    Linder, K.E.2    Bell, J.S.3    de Lahunta, A.4    Olby, N.J.5
  • 12
    • 0027631108 scopus 로고
    • Cerebellar abiotrophy characterized by granular cell loss in a brittany
    • Tatalick LM, Marks SL, Baszler TV, (1993) Cerebellar abiotrophy characterized by granular cell loss in a brittany. Vet Pathol 30: 385-388.
    • (1993) Vet Pathol , vol.30 , pp. 385-388
    • Tatalick, L.M.1    Marks, S.L.2    Baszler, T.V.3
  • 14
    • 0036833596 scopus 로고    scopus 로고
    • Cerebellar abiotrophy in a family of border collie dogs
    • Sandy JR, Slocombe RE, Mitten RW, Jedwab D, (2002) Cerebellar abiotrophy in a family of border collie dogs. Vet Pathol 39: 736-738.
    • (2002) Vet Pathol , vol.39 , pp. 736-738
    • Sandy, J.R.1    Slocombe, R.E.2    Mitten, R.W.3    Jedwab, D.4
  • 15
    • 0034597042 scopus 로고    scopus 로고
    • Presumed immune-mediated cerebellar granuloprival degeneration in the coton de tulear breed
    • Tipold A, Fatzer R, Jaggy A, Moore P, Vandevelde M, (2000) Presumed immune-mediated cerebellar granuloprival degeneration in the coton de tulear breed. J Neuroimmunol 110: 130-133.
    • (2000) J Neuroimmunol , vol.110 , pp. 130-133
    • Tipold, A.1    Fatzer, R.2    Jaggy, A.3    Moore, P.4    Vandevelde, M.5
  • 17
    • 34547515634 scopus 로고    scopus 로고
    • Cerebellar cortical degeneration with selective granule cell loss in bavarian mountain dogs
    • Flegel T, Matiasek K, Henke D, Grevel V, (2007) Cerebellar cortical degeneration with selective granule cell loss in bavarian mountain dogs. J Small Anim Pract 48: 462-465.
    • (2007) J Small Anim Pract , vol.48 , pp. 462-465
    • Flegel, T.1    Matiasek, K.2    Henke, D.3    Grevel, V.4
  • 22
    • 0031861331 scopus 로고    scopus 로고
    • Late-onset progressive spinocerebellar degeneration in brittany spaniel dogs
    • Higgins RJ, LeCouteur RA, Kornegay JN, Coates JR, (1998) Late-onset progressive spinocerebellar degeneration in brittany spaniel dogs. Acta Neuropathol 96: 97-101.
    • (1998) Acta Neuropathol , vol.96 , pp. 97-101
    • Higgins, R.J.1    LeCouteur, R.A.2    Kornegay, J.N.3    Coates, J.R.4
  • 23
    • 84875076497 scopus 로고    scopus 로고
    • A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery
    • Kyostila K, Cizinauskas S, Seppälä EH, Suhonen E, Jeserevics J, et al. (2012) A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery. PLoS Genet 8: e1002759.
    • (2012) PLoS Genet , vol.8
    • Kyostila, K.1    Cizinauskas, S.2    Seppälä, E.H.3    Suhonen, E.4    Jeserevics, J.5
  • 24
    • 84863601420 scopus 로고    scopus 로고
    • Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation
    • Forman OP, De Risio L, Stewart J, Mellersh CS, Beltran E, (2012) Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation. BMC Genet 13: 55.
    • (2012) BMC Genet , vol.13 , pp. 55
    • Forman, O.P.1    De Risio, L.2    Stewart, J.3    Mellersh, C.S.4    Beltran, E.5
  • 25
    • 79952332933 scopus 로고    scopus 로고
    • A truncated retrotransposon disrupts the GRM1 coding sequence in coton de tulear dogs with bandera's neonatal ataxia
    • Zeng R, Farias FH, Johnson GS, McKay SD, Schnabel RD, et al. (2011) A truncated retrotransposon disrupts the GRM1 coding sequence in coton de tulear dogs with bandera's neonatal ataxia. J Vet Intern Med 25: 267-272.
    • (2011) J Vet Intern Med , vol.25 , pp. 267-272
    • Zeng, R.1    Farias, F.H.2    Johnson, G.S.3    McKay, S.D.4    Schnabel, R.D.5
  • 27
    • 0019644456 scopus 로고
    • Clinical features of inherited cerebellar degeneration in gordon setters
    • Steinberg HS, Troncoso JC, Cork LC, Price DL, (1981) Clinical features of inherited cerebellar degeneration in gordon setters. J Am Vet Med Assoc 179: 886-890.
    • (1981) J Am Vet Med Assoc , vol.179 , pp. 886-890
    • Steinberg, H.S.1    Troncoso, J.C.2    Cork, L.C.3    Price, D.L.4
  • 28
    • 77953171044 scopus 로고    scopus 로고
    • Development of a morphometric magnetic resonance image parameter suitable for distinguishing between normal dogs and dogs with cerebellar atrophy
    • Thames RA, Thames RA, Robertson ID, Flegel T, Henke D, O'Brien DP, et al. (2010) Development of a morphometric magnetic resonance image parameter suitable for distinguishing between normal dogs and dogs with cerebellar atrophy. Vet Radiol Ultrasound 51: 246-253.
    • (2010) Vet Radiol Ultrasound , vol.51 , pp. 246-253
    • Thames, R.A.1    Thames, R.A.2    Robertson, I.D.3    Flegel, T.4    Henke, D.5    O'Brien, D.P.6
  • 29
    • 0021691349 scopus 로고
    • Synaptic neurochemical alterations associated with neuronal degeneration in an inherited cerebellar ataxia of gordon setters
    • Tiemeyer MJ, Singer HS, Troncoso JC, Cork LC, Coyle JT, et al. (1984) Synaptic neurochemical alterations associated with neuronal degeneration in an inherited cerebellar ataxia of gordon setters. J Neuropathol Exp Neurol 43: 580-591.
    • (1984) J Neuropathol Exp Neurol , vol.43 , pp. 580-591
    • Tiemeyer, M.J.1    Singer, H.S.2    Troncoso, J.C.3    Cork, L.C.4    Coyle, J.T.5
  • 31
    • 3843145133 scopus 로고    scopus 로고
    • Chromosome-specific microsatellite multiplex sets for linkage studies in the domestic dog
    • Clark LA, Tsai KL, Steiner JM, Williams DA, Guerra T, et al. (2004) Chromosome-specific microsatellite multiplex sets for linkage studies in the domestic dog. Genomics 84: 550-554.
    • (2004) Genomics , vol.84 , pp. 550-554
    • Clark, L.A.1    Tsai, K.L.2    Steiner, J.M.3    Williams, D.A.4    Guerra, T.5
  • 32
    • 0034164171 scopus 로고    scopus 로고
    • MCMC estimation of multi-locus genome sharing and multipoint gene location scores
    • Thompson EA, (2000) MCMC estimation of multi-locus genome sharing and multipoint gene location scores. International Statistical Review 68: 53-73.
    • (2000) International Statistical Review , vol.68 , pp. 53-73
    • Thompson, E.A.1
  • 33
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: A tool set for whole-genome association and population-based linkage analyses
    • Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. (2007) PLINK: A tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575.
    • (2007) Am J Hum Genet , vol.81 , pp. 559-575
    • Purcell, S.1    Neale, B.2    Todd-Brown, K.3    Thomas, L.4    Ferreira, M.A.5
  • 34
    • 0033814928 scopus 로고    scopus 로고
    • Implementing a unified approach to family-based tests of association
    • Laird NM, Horvath S, Xu X, (2000) Implementing a unified approach to family-based tests of association. Genet Epidemiol 19 Suppl 1: S36-42.
    • (2000) Genet Epidemiol , vol.19 , Issue.SUPPL. 1
    • Laird, N.M.1    Horvath, S.2    Xu, X.3
  • 35
    • 77956295988 scopus 로고    scopus 로고
    • The genome analysis toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
    • McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, et al. (2010) The genome analysis toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20: 1297-1303.
    • (2010) Genome Res , vol.20 , pp. 1297-1303
    • McKenna, A.1    Hanna, M.2    Banks, E.3    Sivachenko, A.4    Cibulskis, K.5
  • 36
    • 0040461321 scopus 로고
    • Postnatal cerebellar cortical degeneration in labrador retriever puppies
    • Perille AL, Baer K, Joseph RJ, Carrillo JM, Averill DR, (1991) Postnatal cerebellar cortical degeneration in labrador retriever puppies. Can Vet J 32: 619-621.
    • (1991) Can Vet J , vol.32 , pp. 619-621
    • Perille, A.L.1    Baer, K.2    Joseph, R.J.3    Carrillo, J.M.4    Averill, D.R.5
  • 37
    • 0029365897 scopus 로고
    • Cerebellar cortical degeneration in a labrador retriever
    • Bildfell RJ, Mitchell SK, de Lahunta A, (1995) Cerebellar cortical degeneration in a labrador retriever. Can Vet J 36: 570-572.
    • (1995) Can Vet J , vol.36 , pp. 570-572
    • Bildfell, R.J.1    Mitchell, S.K.2    de Lahunta, A.3
  • 39
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC, (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4: 1073-1081.
    • (2009) Nat Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 40
    • 0035257013 scopus 로고    scopus 로고
    • Rab proteins as membrane organizers
    • Zerial M, (2001) McBride H, (2001) Rab proteins as membrane organizers. Nat Rev Mol Cell Biol 2: 107-117.40.
    • (2001) Nat Rev Mol Cell Biol , vol.2 , pp. 107-117
    • Zerial, M.1    McBride, H.2
  • 41
    • 80054758176 scopus 로고    scopus 로고
    • Involvement of members of the rab family and related small GTPases in autophagosome formation and maturation
    • Chua CE, Gan BQ, Tang BL, (2011) Involvement of members of the rab family and related small GTPases in autophagosome formation and maturation. Cell Mol Life Sci 68: 3349-3358.
    • (2011) Cell Mol Life Sci , vol.68 , pp. 3349-3358
    • Chua, C.E.1    Gan, B.Q.2    Tang, B.L.3
  • 42
    • 77950856354 scopus 로고    scopus 로고
    • Genome-wide SNP and haplotype analyses reveal a rich history underlying dog domestication
    • Vonholdt BM, Pollinger JP, Lohmueller KE, Han E, Parker HG, et al. (2010) Genome-wide SNP and haplotype analyses reveal a rich history underlying dog domestication. Nature 464: 898-902.
    • (2010) Nature , vol.464 , pp. 898-902
    • Vonholdt, B.M.1    Pollinger, J.P.2    Lohmueller, K.E.3    Han, E.4    Parker, H.G.5
  • 43
    • 84857362679 scopus 로고    scopus 로고
    • Genomic analyses of modern dog breeds
    • Parker HG, (2012) Genomic analyses of modern dog breeds. Mamm Genome 23: 19-27.
    • (2012) Mamm Genome , vol.23 , pp. 19-27
    • Parker, H.G.1
  • 44
    • 0027743432 scopus 로고
    • Molecular cloning and subcellular localization of three GTP-binding proteins of the rab subfamily
    • Olkkonen VM, Dupree P, Killisch I, Lütcke A, Zerial M, et al. (1993) Molecular cloning and subcellular localization of three GTP-binding proteins of the rab subfamily. J Cell Sci 106: 1249-1261.
    • (1993) J Cell Sci , vol.106 , pp. 1249-1261
    • Olkkonen, V.M.1    Dupree, P.2    Killisch, I.3    Lütcke, A.4    Zerial, M.5
  • 45
    • 0034635551 scopus 로고    scopus 로고
    • Rab24 is an atypical member of the rab GTPase family. Deficient GTPase activity, GDP dissociation inhibitor interaction, and prenylation of Rab24 expressed in cultured cells
    • Erdman RA, Shellenberger KE, Overmeyer JH, Maltese WA, (2000) Rab24 is an atypical member of the rab GTPase family. Deficient GTPase activity, GDP dissociation inhibitor interaction, and prenylation of Rab24 expressed in cultured cells. J Biol Chem 275: 3848-3856.
    • (2000) J Biol Chem , vol.275 , pp. 3848-3856
    • Erdman, R.A.1    Shellenberger, K.E.2    Overmeyer, J.H.3    Maltese, W.A.4
  • 46
    • 0036017758 scopus 로고    scopus 로고
    • Induction of autophagy causes dramatic changes in the subcellular distribution of GFP-Rab24
    • Munafo DB, Colombo MI, (2002) Induction of autophagy causes dramatic changes in the subcellular distribution of GFP-Rab24. Traffic 3: 472-482.
    • (2002) Traffic , vol.3 , pp. 472-482
    • Munafo, D.B.1    Colombo, M.I.2
  • 48
    • 28644447707 scopus 로고    scopus 로고
    • Genome sequence, comparative analysis and haplotype structure of the domestic dog
    • Lindblad-Toh K, Wade CM, Mikkelsen TS, Karlsson EK, Jaffe DB, et al. (2005) Genome sequence, comparative analysis and haplotype structure of the domestic dog. Nature 438: 803-819.
    • (2005) Nature , vol.438 , pp. 803-819
    • Lindblad-Toh, K.1    Wade, C.M.2    Mikkelsen, T.S.3    Karlsson, E.K.4    Jaffe, D.B.5
  • 49
    • 33749430640 scopus 로고    scopus 로고
    • Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod-cone degeneration interval and identifies ancestral disease-transmitting chromosome
    • Goldstein O, Zangerl B, Pearce-Kelling S, Sidjanin DJ, Kijas JW, et al. (2006) Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod-cone degeneration interval and identifies ancestral disease-transmitting chromosome. Genomics 88: 541-550.
    • (2006) Genomics , vol.88 , pp. 541-550
    • Goldstein, O.1    Zangerl, B.2    Pearce-Kelling, S.3    Sidjanin, D.J.4    Kijas, J.W.5
  • 50
    • 0034714098 scopus 로고    scopus 로고
    • The mammalian rab family of small GTPases: Definition of family and subfamily sequence motifs suggests a mechanism for functional specificity in the ras superfamily
    • Pereira-Leal JB, (2000) Seabra MC, (2000) The mammalian rab family of small GTPases: Definition of family and subfamily sequence motifs suggests a mechanism for functional specificity in the ras superfamily. J Mol Biol 301: 1077-1087.
    • (2000) J Mol Biol , vol.301 , pp. 1077-1087
    • Pereira-Leal, J.B.1    Seabra, M.C.2
  • 51
    • 77954237882 scopus 로고    scopus 로고
    • Network organization of the human autophagy system
    • Behrends C, Sowa ME, Gygi SP, Harper JW, (2010) Network organization of the human autophagy system. Nature 466: 68-76.
    • (2010) Nature , vol.466 , pp. 68-76
    • Behrends, C.1    Sowa, M.E.2    Gygi, S.P.3    Harper, J.W.4
  • 52
    • 27144539169 scopus 로고    scopus 로고
    • Induced expressions of Rab24 GTPase and LC3 in nerve-injured motor neurons
    • Egami Y, Kiryu-Seo S, Yoshimori T, Kiyama H, (2005) Induced expressions of Rab24 GTPase and LC3 in nerve-injured motor neurons. Biochem Biophys Res Commun 337: 1206-1213.
    • (2005) Biochem Biophys Res Commun , vol.337 , pp. 1206-1213
    • Egami, Y.1    Kiryu-Seo, S.2    Yoshimori, T.3    Kiyama, H.4
  • 55
    • 0033561376 scopus 로고    scopus 로고
    • Structural basis of activation and GTP hydrolysis in rab proteins
    • Dumas JJ, Zhu Z, Connolly JL, Lambright DG, (1999) Structural basis of activation and GTP hydrolysis in rab proteins. Structure 7: 413-423.
    • (1999) Structure , vol.7 , pp. 413-423
    • Dumas, J.J.1    Zhu, Z.2    Connolly, J.L.3    Lambright, D.G.4
  • 56
    • 43249096663 scopus 로고    scopus 로고
    • A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome
    • Westbroek W, Tuchman M, Tinloy B, De Wever O, Vilboux T, et al. (2008) A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome. Mol Genet Metab 94: 248-254.
    • (2008) Mol Genet Metab , vol.94 , pp. 248-254
    • Westbroek, W.1    Tuchman, M.2    Tinloy, B.3    De Wever, O.4    Vilboux, T.5
  • 57
    • 0037371509 scopus 로고    scopus 로고
    • Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy
    • Verhoeven K, De Jonghe P, Coen K, Verpoorten N, Auer-Grumbach M, et al. (2003) Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet 72: 722-727.
    • (2003) Am J Hum Genet , vol.72 , pp. 722-727
    • Verhoeven, K.1    De Jonghe, P.2    Coen, K.3    Verpoorten, N.4    Auer-Grumbach, M.5
  • 58
    • 78650962524 scopus 로고    scopus 로고
    • Deconstruction for reconstruction: The role of proteolysis in neural plasticity and disease
    • Bingol B, Sheng M, (2011) Deconstruction for reconstruction: The role of proteolysis in neural plasticity and disease. Neuron 69: 22-32.
    • (2011) Neuron , vol.69 , pp. 22-32
    • Bingol, B.1    Sheng, M.2
  • 59
    • 79151485014 scopus 로고    scopus 로고
    • Role of ubiquitin-proteasome-mediated proteolysis in nervous system disease
    • Hegde AN, Upadhya SC, (2011) Role of ubiquitin-proteasome-mediated proteolysis in nervous system disease. Biochim Biophys Acta 1809: 128-140.
    • (2011) Biochim Biophys Acta , vol.1809 , pp. 128-140
    • Hegde, A.N.1    Upadhya, S.C.2
  • 60
    • 78049495046 scopus 로고    scopus 로고
    • Ubiquitin accumulation in autophagy-deficient mice is dependent on the Nrf2-mediated stress response pathway: A potential role for protein aggregation in autophagic substrate selection
    • Riley BE, Kaiser SE, Shaler TA, Ng AC, Hara T, et al. (2010) Ubiquitin accumulation in autophagy-deficient mice is dependent on the Nrf2-mediated stress response pathway: A potential role for protein aggregation in autophagic substrate selection. J Cell Biol 191: 537-552.
    • (2010) J Cell Biol , vol.191 , pp. 537-552
    • Riley, B.E.1    Kaiser, S.E.2    Shaler, T.A.3    Ng, A.C.4    Hara, T.5
  • 61
    • 84866426794 scopus 로고    scopus 로고
    • Binding of the Atg1/ULK1 kinase to the ubiquitin-like protein Atg8 regulates autophagy
    • Kraft C, Kijanska M, Kalie E, Siergiejuk E, Lee SS, et al. (2012) Binding of the Atg1/ULK1 kinase to the ubiquitin-like protein Atg8 regulates autophagy. EMBO J 31: 3691-3703.
    • (2012) EMBO J , vol.31 , pp. 3691-3703
    • Kraft, C.1    Kijanska, M.2    Kalie, E.3    Siergiejuk, E.4    Lee, S.S.5
  • 62
    • 34247398719 scopus 로고    scopus 로고
    • Constitutive autophagy: Vital role in clearance of unfavorable proteins in neurons
    • Komatsu M, Ueno T, Waguri S, Uchiyama Y, Kominami E, et al. (2007) Constitutive autophagy: Vital role in clearance of unfavorable proteins in neurons. Cell Death Differ 14: 887-894.
    • (2007) Cell Death Differ , vol.14 , pp. 887-894
    • Komatsu, M.1    Ueno, T.2    Waguri, S.3    Uchiyama, Y.4    Kominami, E.5
  • 63
  • 64
    • 21044455137 scopus 로고    scopus 로고
    • Impairment of starvation-induced and constitutive autophagy in Atg7-deficient mice
    • Komatsu M, Waguri S, Ueno T, Iwata J, Murata S, et al. (2005) Impairment of starvation-induced and constitutive autophagy in Atg7-deficient mice. J Cell Biol 169 (3):: 425-434.
    • (2005) J Cell Biol , vol.169 , Issue.3 , pp. 425-434
    • Komatsu, M.1    Waguri, S.2    Ueno, T.3    Iwata, J.4    Murata, S.5
  • 65
    • 33646800306 scopus 로고    scopus 로고
    • Loss of autophagy in the central nervous system causes neurodegeneration in mice
    • Komatsu M, Waguri S, Chiba T, Murata S, Iwata J, et al. (2006) Loss of autophagy in the central nervous system causes neurodegeneration in mice. Nature 441: 880-884.
    • (2006) Nature , vol.441 , pp. 880-884
    • Komatsu, M.1    Waguri, S.2    Chiba, T.3    Murata, S.4    Iwata, J.5
  • 66
    • 26444587508 scopus 로고    scopus 로고
    • Macroautophagy-a novel beta-amyloid peptide-generating pathway activated in alzheimer's disease
    • Yu WH, Cuervo AM, Kumar A, Peterhoff CM, Schmidt SD, et al. (2005) Macroautophagy-a novel beta-amyloid peptide-generating pathway activated in alzheimer's disease. J Cell Biol 171: 87-98.
    • (2005) J Cell Biol , vol.171 , pp. 87-98
    • Yu, W.H.1    Cuervo, A.M.2    Kumar, A.3    Peterhoff, C.M.4    Schmidt, S.D.5
  • 67
    • 84874998766 scopus 로고    scopus 로고
    • The ubiquitin-proteasome system and the autophagic-lysosomal system in alzheimer disease
    • Doi: 10.1101/cshperspect.a006361
    • Ihara Y, Morishima-Kawashima M, Nixon R, (2012) The ubiquitin-proteasome system and the autophagic-lysosomal system in alzheimer disease. Cold Spring Harb Perspect Med 2 (8): 10.1101/cshperspect.a006361.
    • (2012) Cold Spring Harb Perspect Med , vol.2 , Issue.8
    • Ihara, Y.1    Morishima-Kawashima, M.2    Nixon, R.3
  • 68
    • 84875621300 scopus 로고    scopus 로고
    • Mitophagy and parkinson's disease: Be eaten to stay healthy
    • de Vries RL, Przedborski S, (2013) Mitophagy and parkinson's disease: Be eaten to stay healthy. Mol Cell Neurosci 55: 37-43.
    • (2013) Mol Cell Neurosci , vol.55 , pp. 37-43
    • de Vries, R.L.1    Przedborski, S.2
  • 69
    • 33745192802 scopus 로고    scopus 로고
    • Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice
    • Hara T, Nakamura K, Matsui M, Yamamoto A, Nakahara Y, et al. (2006) Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice. Nature 441: 885-889.
    • (2006) Nature , vol.441 , pp. 885-889
    • Hara, T.1    Nakamura, K.2    Matsui, M.3    Yamamoto, A.4    Nakahara, Y.5
  • 70
    • 0027377799 scopus 로고
    • Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM)
    • Spielman RS, McGinnis RE, Ewens WJ, (1993) Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52: 506-516.
    • (1993) Am J Hum Genet , vol.52 , pp. 506-516
    • Spielman, R.S.1    McGinnis, R.E.2    Ewens, W.J.3
  • 71
    • 0034764307 scopus 로고    scopus 로고
    • SSAHA: A fast search method for large DNA databases
    • Ning Z, Cox AJ, Mullikin JC, (2001) SSAHA: A fast search method for large DNA databases. Genome Res 11: 1725-1729.
    • (2001) Genome Res , vol.11 , pp. 1725-1729
    • Ning, Z.1    Cox, A.J.2    Mullikin, J.C.3
  • 72
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with burrows-wheeler transform
    • Li H, Durbin R, (2009) Fast and accurate short read alignment with burrows-wheeler transform. Bioinformatics 25: 1754-1760.
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 74
    • 0033990048 scopus 로고    scopus 로고
    • Primer3 on the WWW for general users and for biologist programmers
    • Rozen S, Skaletsky H, (2000) Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 132: 365-386.
    • (2000) Methods Mol Biol , vol.132 , pp. 365-386
    • Rozen, S.1    Skaletsky, H.2
  • 75
    • 84862245279 scopus 로고    scopus 로고
    • Primer-BLAST: A tool to design target-specific primers for polymerase chain reaction
    • Ye J, Coulouris G, Zaretskaya I, Cutcutache I, Rozen S, et al. (2012) Primer-BLAST: A tool to design target-specific primers for polymerase chain reaction. BMC Bioinformatics 13: 134-2105-13-134.
    • (2012) BMC Bioinformatics , vol.13 , pp. 2105-2113
    • Ye, J.1    Coulouris, G.2    Zaretskaya, I.3    Cutcutache, I.4    Rozen, S.5
  • 76
    • 7244257594 scopus 로고    scopus 로고
    • PerlPrimer: Cross-platform, graphical primer design for standard, bisulphite and real-time PCR
    • Marshall OJ, (2004) PerlPrimer: Cross-platform, graphical primer design for standard, bisulphite and real-time PCR. Bioinformatics 20: 2471-2472.
    • (2004) Bioinformatics , vol.20 , pp. 2471-2472
    • Marshall, O.J.1
  • 77
    • 33747175374 scopus 로고    scopus 로고
    • Development and evaluation of canine reference genes for accurate quantification of gene expression
    • Brinkhof B, Spee B, Rothuizen J, Penning LC, (2006) Development and evaluation of canine reference genes for accurate quantification of gene expression. Anal Biochem 356: 36-43.
    • (2006) Anal Biochem , vol.356 , pp. 36-43
    • Brinkhof, B.1    Spee, B.2    Rothuizen, J.3    Penning, L.C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.