메뉴 건너뛰기




Volumn 73, Issue 16, 2016, Pages 3205-3215

Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism

(16)  Domingo, Aloysius a   Amar, David b   Grütz, Karen a   Lee, Lillian V c   Rosales, Raymond d   Brüggemann, Norbert a,e   Jamora, Roland Dominic f   Cutiongco dela Paz, Eva g,h   Rolfs, Arndt i   Dressler, Dirk j   Walter, Uwe i   Krainc, Dimitri k   Lohmann, Katja a   Shamir, Ron b   Klein, Christine a   Westenberger, Ana a  


Author keywords

Expression profiling; Microarray; Neurodegeneration; Transcriptional dysregulation; Transcriptomics

Indexed keywords

RNA POLYMERASE II; TRANSCRIPTOME; HISTONE ACETYLTRANSFERASE; TATA BINDING PROTEIN ASSOCIATED FACTOR; TATA-BINDING PROTEIN ASSOCIATED FACTOR 250 KDA; TRANSCRIPTION FACTOR IID;

EID: 84958252818     PISSN: 1420682X     EISSN: 14209071     Source Type: Journal    
DOI: 10.1007/s00018-016-2159-4     Document Type: Article
Times cited : (38)

References (53)
  • 1
    • 79952284144 scopus 로고    scopus 로고
    • The unique phenomenology of X-linked dystonia-parkinsonism (XDP, DYT3, “Lubag”)
    • PID: 21047175
    • Lee LV, Rivera C, Teleg R et al (2011) The unique phenomenology of X-linked dystonia-parkinsonism (XDP, DYT3, “Lubag”). Int J Neurosci 121(Suppl):3–11. doi:10.3109/00207454.2010.526727
    • (2011) Int J Neurosci , vol.121 , pp. 3-11
    • Lee, L.V.1    Rivera, C.2    Teleg, R.3
  • 2
    • 84944153909 scopus 로고    scopus 로고
    • New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3)
    • COI: 1:CAS:528:DC%2BC2MXhtFOitbs%3D, PID: 25604858
    • Domingo A, Westenberger A, Lee LV et al (2015) New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3). Eur J Hum Genet 23:1334–1340. doi:10.1038/ejhg.2014.292
    • (2015) Eur J Hum Genet , vol.23 , pp. 1334-1340
    • Domingo, A.1    Westenberger, A.2    Lee, L.V.3
  • 3
    • 80054118595 scopus 로고    scopus 로고
    • X-linked dystonia parkinsonism: clinical phenotype, genetics and therapeutics
    • PID: 24868378
    • Rosales RL (2010) X-linked dystonia parkinsonism: clinical phenotype, genetics and therapeutics. J Mov Disord 3:32–38. doi:10.14802/jmd.10009
    • (2010) J Mov Disord , vol.3 , pp. 32-38
    • Rosales, R.L.1
  • 4
    • 21844443362 scopus 로고    scopus 로고
    • Functional anatomy of the basal ganglia in X-linked recessive dystonia-parkinsonism
    • PID: 15912496
    • Goto S, Lee LV, Munoz EL et al (2005) Functional anatomy of the basal ganglia in X-linked recessive dystonia-parkinsonism. Ann Neurol 58:7–17. doi:10.1002/ana.20513
    • (2005) Ann Neurol , vol.58 , pp. 7-17
    • Goto, S.1    Lee, L.V.2    Munoz, E.L.3
  • 5
    • 79952307352 scopus 로고    scopus 로고
    • Understanding XDP through imaging, pathology, and genetics
    • COI: 1:CAS:528:DC%2BC3MXisVOhtbc%3D, PID: 21034368
    • Pasco PMD, Ison CV, Munoz EL et al (2011) Understanding XDP through imaging, pathology, and genetics. Int J Neurosci 121:12–17. doi:10.3109/00207454.2010.526729
    • (2011) Int J Neurosci , vol.121 , pp. 12-17
    • Pasco, P.M.D.1    Ison, C.V.2    Munoz, E.L.3
  • 6
    • 0042337403 scopus 로고    scopus 로고
    • Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism
    • COI: 1:CAS:528:DC%2BD3sXntFygu7c%3D, PID: 12928496
    • Nolte D, Niemann S, Müller U (2003) Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism. Proc Natl Acad Sci USA 100:10347–10352. doi:10.1073/pnas.1831949100
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 10347-10352
    • Nolte, D.1    Niemann, S.2    Müller, U.3
  • 7
    • 33847183498 scopus 로고    scopus 로고
    • Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism
    • COI: 1:CAS:528:DC%2BD2sXit1Wlu7o%3D, PID: 17273961
    • Makino S, Kaji R, Ando S et al (2007) Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism. Am J Hum Genet 80:393–406. doi:10.1086/512129
    • (2007) Am J Hum Genet , vol.80 , pp. 393-406
    • Makino, S.1    Kaji, R.2    Ando, S.3
  • 8
    • 84873438136 scopus 로고    scopus 로고
    • X-linked dystonia parkinsonism syndrome (XDP, lubag): disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism
    • COI: 1:CAS:528:DC%2BC3sXhvV2qur0%3D, PID: 23184149
    • Herzfeld T, Nolte D, Grznarova M et al (2013) X-linked dystonia parkinsonism syndrome (XDP, lubag): disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism. Hum Mol Genet 22:941–951. doi:10.1093/hmg/dds499
    • (2013) Hum Mol Genet , vol.22 , pp. 941-951
    • Herzfeld, T.1    Nolte, D.2    Grznarova, M.3
  • 9
    • 33747881750 scopus 로고    scopus 로고
    • The general transcription machinery and general cofactors
    • COI: 1:CAS:528:DC%2BD28XlvV2rtr8%3D, PID: 16858867
    • Thomas MC, Chiang C-M (2006) The general transcription machinery and general cofactors. Crit Rev Biochem Mol Biol 41:105–178. doi:10.1080/10409230600648736
    • (2006) Crit Rev Biochem Mol Biol , vol.41 , pp. 105-178
    • Thomas, M.C.1    Chiang, C.-M.2
  • 10
    • 36348993674 scopus 로고    scopus 로고
    • Structural and functional analysis of the human TAF1/DYT3 multiple transcript system
    • COI: 1:CAS:528:DC%2BD2sXhtlSmu7zE, PID: 17952504
    • Herzfeld T, Nolte D, Müller U (2007) Structural and functional analysis of the human TAF1/DYT3 multiple transcript system. Mamm Genome 18:787–795. doi:10.1007/s00335-007-9063-z
    • (2007) Mamm Genome , vol.18 , pp. 787-795
    • Herzfeld, T.1    Nolte, D.2    Müller, U.3
  • 12
    • 23344448837 scopus 로고    scopus 로고
    • Genome-wide expression profiling of human blood reveals biomarkers for Huntington’s disease
    • COI: 1:CAS:528:DC%2BD2MXnvVWjurY%3D, PID: 16043692
    • Borovecki F, Lovrecic L, Zhou J et al (2005) Genome-wide expression profiling of human blood reveals biomarkers for Huntington’s disease. Proc Natl Acad Sci USA 102:11023–11028. doi:10.1073/pnas.0504921102
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 11023-11028
    • Borovecki, F.1    Lovrecic, L.2    Zhou, J.3
  • 13
    • 9644289581 scopus 로고    scopus 로고
    • Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and Down’s syndrome
    • COI: 1:CAS:528:DC%2BD2MXit1Chug%3D%3D, PID: 15562430
    • Tang Y, Schapiro MB, Franz DN et al (2004) Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and Down’s syndrome. Ann Neurol 56:808–814. doi:10.1002/ana.20291
    • (2004) Ann Neurol , vol.56 , pp. 808-814
    • Tang, Y.1    Schapiro, M.B.2    Franz, D.N.3
  • 14
    • 25844526181 scopus 로고    scopus 로고
    • Gene expression in Huntington’s disease skeletal muscle: a potential biomarker
    • COI: 1:CAS:528:DC%2BD2MXmvV2htbo%3D, PID: 15888475
    • Strand AD, Aragaki AK, Shaw D et al (2005) Gene expression in Huntington’s disease skeletal muscle: a potential biomarker. Hum Mol Genet 14:1863–1876. doi:10.1093/hmg/ddi192
    • (2005) Hum Mol Genet , vol.14 , pp. 1863-1876
    • Strand, A.D.1    Aragaki, A.K.2    Shaw, D.3
  • 15
    • 77956873627 scopus 로고    scopus 로고
    • Tackling the widespread and critical impact of batch effects in high-throughput data
    • COI: 1:CAS:528:DC%2BC3cXhtFyju7%2FK, PID: 20838408
    • Leek JT, Scharpf RB, Bravo HC et al (2010) Tackling the widespread and critical impact of batch effects in high-throughput data. Nat Rev Genet 11:733–739
    • (2010) Nat Rev Genet , vol.11 , pp. 733-739
    • Leek, J.T.1    Scharpf, R.B.2    Bravo, H.C.3
  • 16
    • 0035942271 scopus 로고    scopus 로고
    • Significance analysis of microarrays applied to the ionizing radiation response
    • COI: 1:CAS:528:DC%2BD3MXjt1Ons7w%3D, PID: 11309499
    • Tusher VG, Tibshirani R, Chu G (2001) Significance analysis of microarrays applied to the ionizing radiation response. Proc Natl Acad Sci USA 98:5116–5121. doi:10.1073/pnas.091062498
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 5116-5121
    • Tusher, V.G.1    Tibshirani, R.2    Chu, G.3
  • 17
    • 0035710746 scopus 로고    scopus 로고
    • Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method
    • COI: 1:CAS:528:DC%2BD38XhtFelt7s%3D, PID: 11846609
    • Livak KJ, Schmittgen TD (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 25:402–408. doi:10.1006/meth.2001.1262
    • (2001) Methods , vol.25 , pp. 402-408
    • Livak, K.J.1    Schmittgen, T.D.2
  • 18
    • 77649302072 scopus 로고    scopus 로고
    • Expressed Alu repeats as a novel, reliable tool for normalization of real-time quantitative RT-PCR data
    • PID: 20109193
    • Marullo M, Zuccato C, Mariotti C et al (2010) Expressed Alu repeats as a novel, reliable tool for normalization of real-time quantitative RT-PCR data. Genome Biol 11:R9. doi:10.1186/gb-2010-11-1-r9
    • (2010) Genome Biol , vol.11 , pp. R9
    • Marullo, M.1    Zuccato, C.2    Mariotti, C.3
  • 19
    • 79953095540 scopus 로고    scopus 로고
    • RefGenes: identification of reliable and condition specific reference genes for RT-qPCR data normalization
    • COI: 1:CAS:528:DC%2BC3MXktlCgtbs%3D
    • Hruz T, Wyss M, Docquier M et al (2011) RefGenes: identification of reliable and condition specific reference genes for RT-qPCR data normalization. BMC Genom 12:156. doi:10.1186/1471-2164-12-156
    • (2011) BMC Genom , vol.12 , pp. 156
    • Hruz, T.1    Wyss, M.2    Docquier, M.3
  • 20
    • 69949160041 scopus 로고    scopus 로고
    • Identification and validation of suitable endogenous reference genes for gene expression studies in human peripheral blood
    • Stamova BS, Apperson M, Walker WL et al (2009) Identification and validation of suitable endogenous reference genes for gene expression studies in human peripheral blood. BMC Med Genom 2:49. doi:10.1186/1755-8794-2-49
    • (2009) BMC Med Genom , vol.2 , pp. 49
    • Stamova, B.S.1    Apperson, M.2    Walker, W.L.3
  • 21
    • 27644464861 scopus 로고    scopus 로고
    • EXPANDER–an integrative program suite for microarray data analysis
    • Shamir R, Maron-Katz A, Tanay A et al (2005) EXPANDER–an integrative program suite for microarray data analysis. BMC Bioinform 6:232. doi:10.1186/1471-2105-6-232
    • (2005) BMC Bioinform , vol.6 , pp. 232
    • Shamir, R.1    Maron-Katz, A.2    Tanay, A.3
  • 22
    • 76649122816 scopus 로고    scopus 로고
    • Expander: from expression microarrays to networks and functions
    • COI: 1:CAS:528:DC%2BC3cXhsFaks7w%3D, PID: 20134430
    • Ulitsky I, Maron-Katz A, Shavit S et al (2010) Expander: from expression microarrays to networks and functions. Nat Protoc 5:303–322
    • (2010) Nat Protoc , vol.5 , pp. 303-322
    • Ulitsky, I.1    Maron-Katz, A.2    Shavit, S.3
  • 23
    • 34548742517 scopus 로고    scopus 로고
    • Identification of functional modules using network topology and high-throughput data
    • PID: 17408515
    • Ulitsky I, Shamir R (2007) Identification of functional modules using network topology and high-throughput data. BMC Syst Biol 1:8. doi:10.1186/1752-0509-1-8
    • (2007) BMC Syst Biol , vol.1 , pp. 8
    • Ulitsky, I.1    Shamir, R.2
  • 24
    • 77956117850 scopus 로고    scopus 로고
    • Towards computational prediction of microRNA function and activity
    • Ulitsky I, Laurent LC, Shamir R (2010) Towards computational prediction of microRNA function and activity. Nucleic Acids Res 38:e160-e160. doi:10.1093/nar/gkq570
    • (2010) Nucleic Acids Res , vol.38 , pp. e160
    • Ulitsky, I.1    Laurent, L.C.2    Shamir, R.3
  • 25
    • 0038444122 scopus 로고    scopus 로고
    • Genome-wide in silico identification of transcriptional regulators controlling the cell cycle in human cells
    • COI: 1:CAS:528:DC%2BD3sXjs1Oqtbo%3D, PID: 12727897
    • Elkon R, Linhart C, Sharan R et al (2003) Genome-wide in silico identification of transcriptional regulators controlling the cell cycle in human cells. Genome Res 13:773–780. doi:10.1101/gr.947203.5
    • (2003) Genome Res , vol.13 , pp. 773-780
    • Elkon, R.1    Linhart, C.2    Sharan, R.3
  • 26
    • 27344435774 scopus 로고    scopus 로고
    • Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles
    • COI: 1:CAS:528:DC%2BD2MXht1ShtrnO, PID: 16199517
    • Subramanian A, Subramanian A, Tamayo P et al (2005) Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc Natl Acad Sci USA 102:15545–15550. doi:10.1073/pnas.0506580102
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 15545-15550
    • Subramanian, A.1    Subramanian, A.2    Tamayo, P.3
  • 27
    • 77954269901 scopus 로고    scopus 로고
    • The GeneMANIA prediction server: biological network integration for gene prioritization and predicting gene function
    • Warde-Farley D, Donaldson SL, Comes O et al (2010) The GeneMANIA prediction server: biological network integration for gene prioritization and predicting gene function. Nucleic Acids Res 38:214–220. doi:10.1093/nar/gkq537
    • (2010) Nucleic Acids Res , vol.38 , pp. 214-220
    • Warde-Farley, D.1    Donaldson, S.L.2    Comes, O.3
  • 28
    • 23844519339 scopus 로고    scopus 로고
    • A high-resolution map of active promoters in the human genome
    • COI: 1:CAS:528:DC%2BD2MXnt1Siu7k%3D, PID: 15988478
    • Kim TH, Barrera LO, Zheng M et al (2005) A high-resolution map of active promoters in the human genome. Nature 436:876–880. doi:10.1038/nature03877
    • (2005) Nature , vol.436 , pp. 876-880
    • Kim, T.H.1    Barrera, L.O.2    Zheng, M.3
  • 29
    • 84871206169 scopus 로고    scopus 로고
    • Fold change and p value cutoffs significantly alter microarray interpretations
    • PID: 22536862
    • Dalman MR, Deeter A, Nimishakavi G, Duan Z-H (2012) Fold change and p value cutoffs significantly alter microarray interpretations. BMC Bioinformatics 13:S11. doi:10.1186/1471-2105-13-S2-S11
    • (2012) BMC Bioinformatics , vol.13 , pp. S11
    • Dalman, M.R.1    Deeter, A.2    Nimishakavi, G.3    Duan, Z.-H.4
  • 30
    • 29244448340 scopus 로고    scopus 로고
    • Microarray data analysis: from disarray to consolidation and consensus
    • COI: 1:CAS:528:DC%2BD2MXhtlanu73F, PID: 16369572
    • Allison DB, Cui X, Page GP, Sabripour M (2006) Microarray data analysis: from disarray to consolidation and consensus. Nat Rev Genet 7:55–65. doi:10.1038/nrg1869
    • (2006) Nat Rev Genet , vol.7 , pp. 55-65
    • Allison, D.B.1    Cui, X.2    Page, G.P.3    Sabripour, M.4
  • 31
    • 84871558573 scopus 로고    scopus 로고
    • Limited gene expression variation in human embryonic stem cell and induced pluripotent stem cell-derived endothelial cells
    • COI: 1:CAS:528:DC%2BC3sXhvV2ht7s%3D, PID: 23079999
    • White MP, Rufaihah AJ, Liu L et al (2013) Limited gene expression variation in human embryonic stem cell and induced pluripotent stem cell-derived endothelial cells. Stem Cells 31:92–103. doi:10.1002/stem.1267
    • (2013) Stem Cells , vol.31 , pp. 92-103
    • White, M.P.1    Rufaihah, A.J.2    Liu, L.3
  • 32
    • 70450192073 scopus 로고    scopus 로고
    • Transcriptional dysregulation of coding and non-coding genes in cellular models of Huntington’s disease
    • COI: 1:CAS:528:DC%2BD1MXhsVersrzK, PID: 19909260
    • Bithell A, Johnson R, Buckley NJ (2009) Transcriptional dysregulation of coding and non-coding genes in cellular models of Huntington’s disease. Biochem Soc Trans 37:1270–1275. doi:10.1042/BST0371270
    • (2009) Biochem Soc Trans , vol.37 , pp. 1270-1275
    • Bithell, A.1    Johnson, R.2    Buckley, N.J.3
  • 33
    • 84903447587 scopus 로고    scopus 로고
    • Structural and functional insight into TAF1-TAF7, a subcomplex of transcription factor II D
    • COI: 1:CAS:528:DC%2BC2cXpsVKjt7Y%3D, PID: 24927529
    • Bhattacharya S, Lou X, Hwang P et al (2014) Structural and functional insight into TAF1-TAF7, a subcomplex of transcription factor II D. Proc Natl Acad Sci USA 111:9103–9108. doi:10.1073/pnas.1408293111
    • (2014) Proc Natl Acad Sci USA , vol.111 , pp. 9103-9108
    • Bhattacharya, S.1    Lou, X.2    Hwang, P.3
  • 34
    • 0037150687 scopus 로고    scopus 로고
    • Sp1 and TAFII130 transcriptional activity disrupted in early Huntington’s disease
    • COI: 1:CAS:528:DC%2BD38XkvFGht7o%3D, PID: 11988536
    • Dunah AW, Jeong H, Griffin A et al (2002) Sp1 and TAFII130 transcriptional activity disrupted in early Huntington’s disease. Science 296:2238–2243. doi:10.1126/science.1072613
    • (2002) Science , vol.296 , pp. 2238-2243
    • Dunah, A.W.1    Jeong, H.2    Griffin, A.3
  • 35
    • 36448930958 scopus 로고    scopus 로고
    • Polyglutamine domain modulates the TBP-TFIIB interaction: implications for its normal function and neurodegeneration
    • COI: 1:CAS:528:DC%2BD2sXhtlKltLbE, PID: 17994014
    • Friedman MJ, Shah AG, Fang Z-H et al (2007) Polyglutamine domain modulates the TBP-TFIIB interaction: implications for its normal function and neurodegeneration. Nat Neurosci 10:1519–1528. doi:10.1038/nn2011
    • (2007) Nat Neurosci , vol.10 , pp. 1519-1528
    • Friedman, M.J.1    Shah, A.G.2    Fang, Z.-H.3
  • 36
    • 70350000597 scopus 로고    scopus 로고
    • Transcriptional dysregulation of TrkA associates with neurodegeneration in spinocerebellar ataxia type 17
    • COI: 1:CAS:528:DC%2BD1MXht1CrtrrN, PID: 19643914
    • Shah AG, Friedman MJ, Huang S et al (2009) Transcriptional dysregulation of TrkA associates with neurodegeneration in spinocerebellar ataxia type 17. Hum Mol Genet 18:4141–4152. doi:10.1093/hmg/ddp363
    • (2009) Hum Mol Genet , vol.18 , pp. 4141-4152
    • Shah, A.G.1    Friedman, M.J.2    Huang, S.3
  • 37
    • 0037088641 scopus 로고    scopus 로고
    • The Slp homology domain of synaptotagmin-like proteins 1–4 and Slac2 functions as a novel Rab27A binding domain
    • COI: 1:CAS:528:DC%2BD38Xitl2ksL8%3D, PID: 11773082
    • Kuroda TS, Fukuda M, Ariga H, Mikoshiba K (2002) The Slp homology domain of synaptotagmin-like proteins 1–4 and Slac2 functions as a novel Rab27A binding domain. J Biol Chem 277:9212–9218. doi:10.1074/jbc.M112414200
    • (2002) J Biol Chem , vol.277 , pp. 9212-9218
    • Kuroda, T.S.1    Fukuda, M.2    Ariga, H.3    Mikoshiba, K.4
  • 38
    • 17044383478 scopus 로고    scopus 로고
    • Versatile role of Rab27 in membrane trafficking: focus on the Rab27 effector families
    • PID: 15713878
    • Fukuda M (2005) Versatile role of Rab27 in membrane trafficking: focus on the Rab27 effector families. J Biochem 137:9–16. doi:10.1093/jb/mvi002
    • (2005) J Biochem , vol.137 , pp. 9-16
    • Fukuda, M.1
  • 39
    • 84952671422 scopus 로고    scopus 로고
    • Endocytic membrane trafficking and neurodegenerative disease
    • PID: 26721251
    • Schreij AMA, Fon EA, McPherson PS (2015) Endocytic membrane trafficking and neurodegenerative disease. Cell Mol Life Sci. doi:10.1007/s00018-015-2105-x
    • (2015) Cell Mol Life Sci
    • Schreij, A.M.A.1    Fon, E.A.2    McPherson, P.S.3
  • 40
    • 84929705678 scopus 로고    scopus 로고
    • The endosomal pathway in Parkinson’s disease
    • COI: 1:CAS:528:DC%2BC2MXjt1Sis74%3D, PID: 25701813
    • Perrett RM, Alexopoulou Z, Tofaris GK (2015) The endosomal pathway in Parkinson’s disease. Mol Cell Neurosci 66:21–28. doi:10.1016/j.mcn.2015.02.009
    • (2015) Mol Cell Neurosci , vol.66 , pp. 21-28
    • Perrett, R.M.1    Alexopoulou, Z.2    Tofaris, G.K.3
  • 41
    • 84935038727 scopus 로고    scopus 로고
    • Retromer-dependent neurotransmitter receptor trafficking to synapses is altered by the Parkinson’s disease VPS35 mutation p. D620N
    • COI: 1:CAS:528:DC%2BC2MXhsVylsb%2FI, PID: 25416282
    • Munsie LN, Milnerwood AJ, Seibler P et al (2015) Retromer-dependent neurotransmitter receptor trafficking to synapses is altered by the Parkinson’s disease VPS35 mutation p. D620N. Hum Mol Genet 24:1691–1703. doi:10.1093/hmg/ddu582
    • (2015) Hum Mol Genet , vol.24 , pp. 1691-1703
    • Munsie, L.N.1    Milnerwood, A.J.2    Seibler, P.3
  • 42
    • 80052059432 scopus 로고    scopus 로고
    • Sodium/myo-Inositol transporters: substrate transport requirements and regional brain expression in the TgCRND8 mouse model of amyloid pathology
    • COI: 1:CAS:528:DC%2BC3MXht1Sqt7vK, PID: 21887366
    • Fenili D, Weng Y-Q, Aubert I et al (2011) Sodium/myo-Inositol transporters: substrate transport requirements and regional brain expression in the TgCRND8 mouse model of amyloid pathology. PLoS ONE 6:e24032. doi:10.1371/journal.pone.0024032
    • (2011) PLoS ONE , vol.6 , pp. e24032
    • Fenili, D.1    Weng, Y.-Q.2    Aubert, I.3
  • 43
    • 84938839518 scopus 로고    scopus 로고
    • Huntington’s disease: neural dysfunction linked to inositol polyphosphate multikinase
    • COI: 1:CAS:528:DC%2BC2MXhtF2hsr3F, PID: 26195796
    • Ahmed I, Sbodio JI, Harraz MM et al (2015) Huntington’s disease: neural dysfunction linked to inositol polyphosphate multikinase. Proc Natl Acad Sci USA 112:9751–9756. doi:10.1073/pnas.1511810112
    • (2015) Proc Natl Acad Sci USA , vol.112 , pp. 9751-9756
    • Ahmed, I.1    Sbodio, J.I.2    Harraz, M.M.3
  • 44
    • 2442661362 scopus 로고    scopus 로고
    • Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome
    • COI: 1:CAS:528:DC%2BD2cXks1Cqsrw%3D, PID: 15124102
    • Wieland I, Jakubiczka S, Muschke P et al (2004) Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. Am J Hum Genet 74:1209–1215. doi:10.1086/421532
    • (2004) Am J Hum Genet , vol.74 , pp. 1209-1215
    • Wieland, I.1    Jakubiczka, S.2    Muschke, P.3
  • 45
    • 84951835643 scopus 로고    scopus 로고
    • TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations
    • PID: 26637982
    • O’Rawe JA, Wu Y, Dörfel MJ et al (2015) TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations. Am J Hum Genet 97:922–932. doi:10.1016/j.ajhg.2015.11.005
    • (2015) Am J Hum Genet , vol.97 , pp. 922-932
    • O’Rawe, J.A.1    Wu, Y.2    Dörfel, M.J.3
  • 46
    • 53249121024 scopus 로고    scopus 로고
    • Long range chromatin interactions involved in gene regulation
    • COI: 1:CAS:528:DC%2BD1cXht1egurfN, PID: 18706938
    • Bartkuhn M, Renkawitz R (2008) Long range chromatin interactions involved in gene regulation. Biochim Biophys Acta 1783:2161–2166. doi:10.1016/j.bbamcr.2008.07.011
    • (2008) Biochim Biophys Acta , vol.1783 , pp. 2161-2166
    • Bartkuhn, M.1    Renkawitz, R.2
  • 47
    • 84860487766 scopus 로고    scopus 로고
    • A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating Co-chaperone auxilin, is associated with juvenile parkinsonism
    • Edvardson S, Cinnamon Y, Ta-Shma A et al (2012) A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating Co-chaperone auxilin, is associated with juvenile parkinsonism. PLoS ONE 7:4–8. doi:10.1371/journal.pone.0036458
    • (2012) PLoS ONE , vol.7 , pp. 4-8
    • Edvardson, S.1    Cinnamon, Y.2    Ta-Shma, A.3
  • 48
    • 84874271513 scopus 로고    scopus 로고
    • DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability
    • PID: 23211418
    • Koroglu C, Baysal L, Cetinkaya M et al (2013) DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability. Parkinsonism Relat Disord 19:320–324. doi:10.1016/j.parkreldis.2012.11.006
    • (2013) Parkinsonism Relat Disord , vol.19 , pp. 320-324
    • Koroglu, C.1    Baysal, L.2    Cetinkaya, M.3
  • 49
    • 84955758470 scopus 로고    scopus 로고
    • Gene expression profiling predicts pathways and genes associated with Parkinson’s disease
    • Liu S, Zhang Y, Bian H, Li X (2016) Gene expression profiling predicts pathways and genes associated with Parkinson’s disease. Neurol Sci Off J Ital Neurol Soc Ital Soc Clin Neurophysiol 37:73–79. doi:10.1007/s10072-015-2360-5
    • (2016) Neurol Sci Off J Ital Neurol Soc Ital Soc Clin Neurophysiol , vol.37 , pp. 73-79
    • Liu, S.1    Zhang, Y.2    Bian, H.3    Li, X.4
  • 50
    • 84938739004 scopus 로고    scopus 로고
    • DNA damage in neurodegenerative diseases
    • COI: 1:CAS:528:DC%2BC2cXitVygsLzN, PID: 26255941
    • Coppede F, Migliore L (2015) DNA damage in neurodegenerative diseases. Mutat Res 776:84–97. doi:10.1016/j.mrfmmm.2014.11.010
    • (2015) Mutat Res , vol.776 , pp. 84-97
    • Coppede, F.1    Migliore, L.2
  • 51
    • 84906306620 scopus 로고    scopus 로고
    • Slowing of neurodegeneration in Parkinson’s disease and Huntington’s disease: future therapeutic perspectives
    • COI: 1:CAS:528:DC%2BC2cXhtVanu7jL
    • Schapira AHV, Olanow CW, Greenamyre JT, Bezard E (2014) Slowing of neurodegeneration in Parkinson’s disease and Huntington’s disease: future therapeutic perspectives. Lancet (London, England) 384:545–555. doi:10.1016/S0140-6736(14)61010-2
    • (2014) Lancet (London, England) , vol.384 , pp. 545-555
    • Schapira, A.H.V.1    Olanow, C.W.2    Greenamyre, J.T.3    Bezard, E.4
  • 52
    • 0037147268 scopus 로고    scopus 로고
    • Basic helix-loop-helix protein DEC1 promotes chondrocyte differentiation at the early and terminal stages
    • COI: 1:CAS:528:DC%2BD38XpsFarsr4%3D, PID: 12384505
    • Shen M (2002) Basic helix-loop-helix protein DEC1 promotes chondrocyte differentiation at the early and terminal stages. J Biol Chem 277:50112–50120. doi:10.1074/jbc.M206771200
    • (2002) J Biol Chem , vol.277 , pp. 50112-50120
    • Shen, M.1
  • 53
    • 41449091585 scopus 로고    scopus 로고
    • DEC1, a basic helix-loop-helix transcription factor and a novel target gene of the p53 family, mediates p53-dependent premature senescence
    • COI: 1:CAS:528:DC%2BD1cXhtVSltro%3D, PID: 18025081
    • Qian Y, Zhang J, Yan B, Chen X (2008) DEC1, a basic helix-loop-helix transcription factor and a novel target gene of the p53 family, mediates p53-dependent premature senescence. J Biol Chem 283:2896–2905. doi:10.1074/jbc.M708624200
    • (2008) J Biol Chem , vol.283 , pp. 2896-2905
    • Qian, Y.1    Zhang, J.2    Yan, B.3    Chen, X.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.