메뉴 건너뛰기




Volumn 128, Issue 4, 2010, Pages 453-459

Age at onset in Huntington's disease is modified by the autophagy pathway: Implication of the V471A polymorphism in Atg7

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; NUCLEOTIDE; THYMOCYTE ANTIBODY; VALINE; ATG7 PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

EID: 77957565855     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-010-0873-9     Document Type: Article
Times cited : (84)

References (47)
  • 1
    • 33846436448 scopus 로고    scopus 로고
    • Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds
    • DOI 10.1136/jmg.2006.045153
    • JM Andresen J Gayán SS Cherny D Brocklebank G Alkorta-Aranburu EA Addis US-Venezuela Collaborative Research Group LR Cardon DE Housman NS Wexler 2007 Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds J Med Genet 44 44 50 10.1136/jmg.2006.045153 17018562 1:CAS:528:DC%2BD2sXhvVGis7o%3D (Pubitemid 46142838)
    • (2007) Journal of Medical Genetics , vol.44 , Issue.1 , pp. 44-50
    • Andresen, J.M.1    Gayan, J.2    Cherny, S.S.3    Brocklebank, D.4    Alkorta-Aranburu, G.5    Addis, E.A.6    Cardon, L.R.7    Housman, D.E.8    Wexler, N.S.9
  • 3
    • 15444363304 scopus 로고    scopus 로고
    • NR2A and NR2B receptor gene variations modify age at onset in Huntington disease
    • DOI 10.1007/s10048-004-0198-8
    • L Arning PH Kraus S Valentin C Saft J Andricj JT Epplen 2005 NR2A and NR2B receptor gene variations modify age at onset in Huntington disease Neurogenetics 6 25 28 10.1007/s10048-004-0198-8 15742215 1:CAS:528: DC%2BD2MXhslGgu7Y%3D (Pubitemid 40394827)
    • (2005) Neurogenetics , vol.6 , Issue.1 , pp. 25-28
    • Arning, L.1    Kraus, P.H.2    Valentin, S.3    Saft, C.4    Andrich, J.5    Epplen, J.T.6
  • 4
    • 0030935035 scopus 로고    scopus 로고
    • The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size
    • 9150168 1:CAS:528:DyaK2sXjtlOqs70%3D
    • RR Brinkman MM Mezei J Theilman E Almqvist MR Hayden 1997 The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size Am J Hum Genet 60 1202 1210 9150168 1:CAS:528:DyaK2sXjtlOqs70%3D
    • (1997) Am J Hum Genet , vol.60 , pp. 1202-1210
    • Brinkman, R.R.1    Mezei, M.M.2    Theilman, J.3    Almqvist, E.4    Hayden, M.R.5
  • 5
    • 0034908554 scopus 로고    scopus 로고
    • Nomenclature for the description of human sequence variations
    • DOI 10.1007/s004390100505
    • JT den Dunnen SE Antonarakis 2001 Nomenclature for the description of human sequence variations Hum Genet 109 121 124 10.1007/s004390100505 1:CAS:528:DC%2BD3MXltlGqtLw%3D (Pubitemid 32743202)
    • (2001) Human Genetics , vol.109 , Issue.1 , pp. 121-124
    • Den Dunnen, J.T.1    Antonarakis, E.2
  • 7
    • 0030752709 scopus 로고    scopus 로고
    • Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain
    • DOI 10.1126/science.277.5334.1990
    • M DiFiglia E Sapp KO Chase SW Davies GP Bates JP Vonsattel N Aronin 1997 Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain Science 277 1990 1993 10.1126/science.277.5334.1990 9302293 1:CAS:528:DyaK2sXmt12rurs%3D (Pubitemid 27449140)
    • (1997) Science , vol.277 , Issue.5334 , pp. 1990-1993
    • DiFiglia, M.1    Sapp, E.2    Chase, K.O.3    Davies, S.W.4    Bates, G.P.5    Vonsattel, J.P.6    Aronin, N.7
  • 11
    • 0033280667 scopus 로고    scopus 로고
    • Vacuolar import of proteins and organelles from the cytoplasm
    • DOI 10.1146/annurev.cellbio.15.1.1
    • DJ Klionsky Y Ohsumi 1999 Vascular import of proteins and organelles from the cytoplasm Annu Rev Cell Dev Biol 15 1 32 10.1146/annurev.cellbio.15.1.1 10611955 1:CAS:528:DC%2BD3cXhtVSntbg%3D (Pubitemid 32250369)
    • (1999) Annual Review of Cell and Developmental Biology , vol.15 , pp. 1-32
    • Klionsky, D.J.1    Ohsumi, Y.2
  • 16
    • 37649005234 scopus 로고    scopus 로고
    • Autophagy in the pathogenesis of disease
    • 10.1016/j.cell.2007.12.018 18191218 1:CAS:528:DC%2BD1cXhtFehtb8%3D
    • B Levine G Kroemer 2008 Autophagy in the pathogenesis of disease Cell 132 27 42 10.1016/j.cell.2007.12.018 18191218 1:CAS:528:DC%2BD1cXhtFehtb8%3D
    • (2008) Cell , vol.132 , pp. 27-42
    • Levine, B.1    Kroemer, G.2
  • 17
    • 1242338856 scopus 로고    scopus 로고
    • Huntingtin-protein interactions and the pathogenesis of Huntington's disease
    • DOI 10.1016/j.tig.2004.01.008
    • SH Li XJ Li 2004 Huntingtin-protein interactions and the pathogenesis of Huntington's disease Trends Genet 20 146 154 10.1016/j.tig.2004.01.008 15036808 1:CAS:528:DC%2BD2cXhsV2nu7g%3D (Pubitemid 38230029)
    • (2004) Trends in Genetics , vol.20 , Issue.3 , pp. 146-154
    • Li, S.-H.1    Li, X.-J.2
  • 19
    • 24144463983 scopus 로고    scopus 로고
    • Metabolic control through the PGC-1 family of transcription coactivators
    • DOI 10.1016/j.cmet.2005.05.004, PII S1550413105001427
    • J Lin C Handschin BM Spiegelman 2005 Metabolic control through the PGC-1 family of transcription coactivators Cell Metab 1 361 370 10.1016/j.cmet.2005. 05.004 16054085 1:CAS:528:DC%2BD2MXlslajsL4%3D (Pubitemid 43960626)
    • (2005) Cell Metabolism , vol.1 , Issue.6 , pp. 361-370
    • Lin, J.1    Handschin, C.2    Spiegelman, B.M.3
  • 22
    • 77951665859 scopus 로고    scopus 로고
    • Cargo recognition failure is responsible for inefficient autophagy in Huntington's disease
    • 10.1038/nn.2528 20383138 1:CAS:528:DC%2BC3cXksFarsr4%3D
    • M Martinez-Vicente Z Talloczy E Wong G Tang H Koga S Kaushik R de Vries E Arias S Harris D Sulzer, et al. 2010 Cargo recognition failure is responsible for inefficient autophagy in Huntington's disease Nat Neurosci 13 567 576 10.1038/nn.2528 20383138 1:CAS:528:DC%2BC3cXksFarsr4%3D
    • (2010) Nat Neurosci , vol.13 , pp. 567-576
    • Martinez-Vicente, M.1    Talloczy, Z.2    Wong, E.3    Tang, G.4    Koga, H.5    Kaushik, S.6    De Vries, R.7    Arias, E.8    Harris, S.9    Sulzer, D.10
  • 23
    • 33645642673 scopus 로고    scopus 로고
    • Interaction of Huntingtin-associated protein-1 with kinesin light chain: Implications in intracellular trafficking in neurons
    • DOI 10.1074/jbc.M509806200
    • JR McGuire J Rong SH Li XJ Li 2006 Interaction of Huntingtin-associated protein-1 with kinesin light chain: implications in intracellular trafficking in neurons J Biol Chem 281 3552 3559 10.1074/jbc.M509806200 16339760 1:CAS:528:DC%2BD28XhtFSmtr0%3D (Pubitemid 43845972)
    • (2006) Journal of Biological Chemistry , vol.281 , Issue.6 , pp. 3552-3559
    • McGuire, J.R.1    Rong, J.2    Li, S.-H.3    Li, X.-J.4
  • 27
    • 0037008355 scopus 로고    scopus 로고
    • Mutation analysis and association studies of the ubiquitin carboxy-terminal hydrolase L1 gene in Huntington's disease
    • DOI 10.1016/S0304-3940(02)00231-8, PII S0304394002002318
    • P Naze I Vuillaume A Destee F Pasquier B Sablonniere 2002 Mutation analysis and association studies of the ubiquitin carboxy-terminal hydrolase L1 gene in Huntington's disease Neurosci Lett 328 1 4 10.1016/S0304-3940(02)00231-8 12123845 1:CAS:528:DC%2BD38Xlt12mtLk%3D (Pubitemid 34786029)
    • (2002) Neuroscience Letters , vol.328 , Issue.1 , pp. 1-4
    • Naze, P.1    Vuillaume, I.2    Destee, A.3    Pasquier, F.4    Sablonniere, B.5
  • 28
    • 0036566266 scopus 로고    scopus 로고
    • Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy
    • 10.1093/hmg/11.9.1107 11978769 1:CAS:528:DC%2BD38XjvFSntbo%3D
    • B Ravikumar R Duden DC Rubinsztein 2002 Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy Hum Mol Genet 11 1107 1117 10.1093/hmg/11.9.1107 11978769 1:CAS:528:DC%2BD38XjvFSntbo%3D
    • (2002) Hum Mol Genet , vol.11 , pp. 1107-1117
    • Ravikumar, B.1    Duden, R.2    Rubinsztein, D.C.3
  • 30
    • 33645112812 scopus 로고    scopus 로고
    • Rapamycin pre-treatment protects against apoptosis
    • 10.1093/hmg/ddl036 16497721 1:CAS:528:DC%2BD28Xis1Shs70%3D
    • B Ravikumar Z Berger C Vacher CJ O'Kane DC Rubinsztein 2006 Rapamycin pre-treatment protects against apoptosis Hum Mol Genet 15 1209 1216 10.1093/hmg/ddl036 16497721 1:CAS:528:DC%2BD28Xis1Shs70%3D
    • (2006) Hum Mol Genet , vol.15 , pp. 1209-1216
    • Ravikumar, B.1    Berger, Z.2    Vacher, C.3    O'Kane, C.J.4    Rubinsztein, D.C.5
  • 35
    • 60849109499 scopus 로고    scopus 로고
    • PGC-1alpha as modifier of onset age in Huntington disease
    • 10.1186/1750-1326-4-10 19200361 1:CAS:528:DC%2BD1MXlt1aiu7s%3D
    • E Taherzadeh-Fard C Saft J Andrich S Wieczorek L Arning 2009 PGC-1alpha as modifier of onset age in Huntington disease Mol Neurodegener 4 10 10.1186/1750-1326-4-10 19200361 1:CAS:528:DC%2BD1MXlt1aiu7s%3D
    • (2009) Mol Neurodegener , vol.4 , pp. 10
    • Taherzadeh-Fard, E.1    Saft, C.2    Andrich, J.3    Wieczorek, S.4    Arning, L.5
  • 36
    • 78650059716 scopus 로고    scopus 로고
    • Age at onset in Huntington's disease: Replication study on the associations of ADORA2A, HAP1 and OGG1
    • (Epub ahead of print)
    • Taherzadeh-Fard E, Saft C, Wieczorek S, Epplen JT, Arning L (2010) Age at onset in Huntington's disease: replication study on the associations of ADORA2A, HAP1 and OGG1. Neurogenetics (Epub ahead of print)
    • (2010) Neurogenetics
    • Taherzadeh-Fard, E.1    Saft, C.2    Wieczorek, S.3    Epplen, J.T.4    Arning, L.5
  • 37
    • 0041963057 scopus 로고    scopus 로고
    • Huntingtin and huntingtin-associated protein 1 influence neuronal calcium signaling mediated by inositol-(1,4,5) triphosphate receptor type 1
    • DOI 10.1016/S0896-6273(03)00366-0
    • TS Tang H Tu EY Chan A Maximov Z Wang CL Wellington MR Hayden I Bezprozvanny 2003 Huntingtin and huntingtin-associated protein 1 influence neuronal calcium signaling mediated by inositol-(1,4,5) triphosphate receptor type 1 Neuron 39 227 239 10.1016/S0896-6273(03)00366-0 12873381 1:CAS:528:DC%2BD3sXlvFyrs7Y%3D (Pubitemid 36897546)
    • (2003) Neuron , vol.39 , Issue.2 , pp. 227-239
    • Tang, T.-S.1    Tu, H.2    Chan, E.Y.W.3    Maximov, A.4    Wang, Z.5    Wellington, C.L.6    Hayden, M.R.7    Bezprozvanny, I.8
  • 38
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is unstable on Huntington's disease chromosomes
    • The Huntington's Disease Collaborative Research Group
    • The Huntington's Disease Collaborative Research Group 1993 A novel gene containing a trinucleotide repeat that is unstable on Huntington's disease chromosomes Cell 26 971 983
    • (1993) Cell , vol.26 , pp. 971-983
  • 40
    • 0037108725 scopus 로고    scopus 로고
    • Aggregate formation inhibits proteasomal degradation of polyglutamine proteins
    • 10.1093/hmg/11.22.2689 12374759 1:CAS:528:DC%2BD38XotVSjsb4%3D
    • LG Verhoef K Lindsten MG Masucci NP Dantuma 2002 Aggregate formation inhibits proteasomal degradation of polyglutamine proteins Hum Mol Genet 11 2689 2700 10.1093/hmg/11.22.2689 12374759 1:CAS:528:DC%2BD38XotVSjsb4%3D
    • (2002) Hum Mol Genet , vol.11 , pp. 2689-2700
    • Verhoef, L.G.1    Lindsten, K.2    Masucci, M.G.3    Dantuma, N.P.4
  • 41
    • 0031747231 scopus 로고    scopus 로고
    • Genetic polymorphisms adjacent to the CAG repeat influence clinical features at onset in Huntington's disease
    • 10.1136/jnnp.64.6.758 9647305 1:STN:280:DyaK1czgvFGhsg%3D%3D
    • I Vuillaume P Vermersch A Destee H Petit B Sablonniere 1998 Genetic polymorphisms adjacent to the CAG repeat influence clinical features at onset in Huntington's disease J Neurol Neurosurg Psychiatry 64 758 762 10.1136/jnnp.64.6.758 9647305 1:STN:280:DyaK1czgvFGhsg%3D%3D
    • (1998) J Neurol Neurosurg Psychiatry , vol.64 , pp. 758-762
    • Vuillaume, I.1    Vermersch, P.2    Destee, A.3    Petit, H.4    Sablonniere, B.5
  • 42
    • 33846225133 scopus 로고    scopus 로고
    • Huntington's disease
    • DOI 10.1016/S0140-6736(07)60111-1, PII S0140673607601111
    • FO Walker 2007 Huntington's disease Lancet 369 218 228 10.1016/S0140-6736(07)60111-1 17240289 1:CAS:528:DC%2BD2sXntlCntg%3D%3D (Pubitemid 46107685)
    • (2007) Lancet , vol.369 , Issue.9557 , pp. 218-228
    • Walker, F.O.1
  • 44
    • 0030613177 scopus 로고    scopus 로고
    • Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion
    • 10.1038/ng1297-404 9398841 1:CAS:528:DyaK2sXnvFWku7k%3D
    • JK White W Auerbach MP Duyao JP Vonsattel JF Gusella AL Joyner ME MacDonald 1997 Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion Nat Genet 17 404 410 10.1038/ng1297-404 9398841 1:CAS:528:DyaK2sXnvFWku7k%3D
    • (1997) Nat Genet , vol.17 , pp. 404-410
    • White, J.K.1    Auerbach, W.2    Duyao, M.P.3    Vonsattel, J.P.4    Gusella, J.F.5    Joyner, A.L.6    MacDonald, M.E.7
  • 45
    • 74949090299 scopus 로고    scopus 로고
    • An overview of the molecular mechanism of autophagy
    • 10.1007/978-3-642-00302-8-1 19802558 1:CAS:528:DC%2BC3cXisVamt7k%3D
    • Z Yang DJ Klionsky 2009 An overview of the molecular mechanism of autophagy Curr Top Microbiol Immunol 335 1 32 10.1007/978-3-642-00302-8-1 19802558 1:CAS:528:DC%2BC3cXisVamt7k%3D
    • (2009) Curr Top Microbiol Immunol , vol.335 , pp. 1-32
    • Yang, Z.1    Klionsky, D.J.2
  • 46
    • 0025342419 scopus 로고
    • Excitatory amino acid receptors in the brain: membrane binding and receptor autoradiographic approaches
    • DOI 10.1016/0165-6147(90)90199-I
    • AB Young GE Fagg 1990 Excitatory amino acid receptors in the brain: membrane binding and receptor autoradiographic approaches Trends Pharmacol Sci 11 126 133 10.1016/0165-6147(90)90199-I 1966569 1:STN:280:DyaK3Mzns12jsA%3D%3D (Pubitemid 20091412)
    • (1990) Trends in Pharmacological Sciences , vol.11 , Issue.3 , pp. 126-133
    • Young, A.B.1    Fagg, G.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.