-
1
-
-
0021028244
-
A polymorphic DNA marker genetically linked to Huntington's disease
-
Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, et al. (1983) A polymorphic DNA marker genetically linked to Huntington's disease. Nature 306: 234-238.
-
(1983)
Nature
, vol.306
, pp. 234-238
-
-
Gusella, J.F.1
Wexler, N.S.2
Conneally, P.M.3
Naylor, S.L.4
Anderson, M.A.5
-
2
-
-
33846225133
-
Huntington's disease
-
Walker FO, (2007) Huntington's disease. Lancet 369: 218-228.
-
(2007)
Lancet
, vol.369
, pp. 218-228
-
-
Walker, F.O.1
-
3
-
-
0023779388
-
Huntington disease in Georgia: age at onset
-
Adams P, Falek A, Arnold J, (1988) Huntington disease in Georgia: age at onset. Am J Hum Genet 43: 695-704.
-
(1988)
Am J Hum Genet
, vol.43
, pp. 695-704
-
-
Adams, P.1
Falek, A.2
Arnold, J.3
-
4
-
-
0033022687
-
Differences in duration of Huntington's disease based on age at onset
-
Foroud T, Gray J, Ivashina J, Conneally PM, (1999) Differences in duration of Huntington's disease based on age at onset. J Neurol Neurosurg Psychiatry 66: 52-56.
-
(1999)
J Neurol Neurosurg Psychiatry
, vol.66
, pp. 52-56
-
-
Foroud, T.1
Gray, J.2
Ivashina, J.3
Conneally, P.M.4
-
5
-
-
0019466370
-
A life table for onset of Huntington's chorea
-
Newcombe RG, (1981) A life table for onset of Huntington's chorea. Ann Hum Genet 45: 375-385.
-
(1981)
Ann Hum Genet
, vol.45
, pp. 375-385
-
-
Newcombe, R.G.1
-
6
-
-
0027468861
-
Duration of illness in Huntington's disease is not related to age at onset
-
Roos RA, Hermans J, Vegter-van der Vlis M, van Ommen GJ, Bruyn GW, (1993) Duration of illness in Huntington's disease is not related to age at onset. J Neurol Neurosurg Psychiatry 56: 98-100.
-
(1993)
J Neurol Neurosurg Psychiatry
, vol.56
, pp. 98-100
-
-
Roos, R.A.1
Hermans, J.2
Vegter-van der Vlis, M.3
van Ommen, G.J.4
Bruyn, G.W.5
-
7
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group
-
HDCRG
-
HDCRG (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group. Cell 72: 971-983.
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
-
8
-
-
11144357398
-
Specific caspase interactions and amplification are involved in selective neuronal vulnerability in Huntington's disease
-
Hermel E, Gafni J, Propp SS, Leavitt BR, Wellington CL, et al. (2004) Specific caspase interactions and amplification are involved in selective neuronal vulnerability in Huntington's disease. Cell Death Differ 11: 424-438.
-
(2004)
Cell Death Differ
, vol.11
, pp. 424-438
-
-
Hermel, E.1
Gafni, J.2
Propp, S.S.3
Leavitt, B.R.4
Wellington, C.L.5
-
9
-
-
9344227302
-
Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract
-
Goldberg YP, Nicholson DW, Rasper DM, Kalchman MA, Koide HB, et al. (1996) Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nat Genet 13: 442-449.
-
(1996)
Nat Genet
, vol.13
, pp. 442-449
-
-
Goldberg, Y.P.1
Nicholson, D.W.2
Rasper, D.M.3
Kalchman, M.A.4
Koide, H.B.5
-
10
-
-
0034163497
-
Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice
-
Wheeler VC, White JK, Gutekunst CA, Vrbanac V, Weaver M, et al. (2000) Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice. Hum Mol Genet 9: 503-513.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 503-513
-
-
Wheeler, V.C.1
White, J.K.2
Gutekunst, C.A.3
Vrbanac, V.4
Weaver, M.5
-
11
-
-
78149487690
-
Cleavage at the 586 amino acid caspase-6 site in mutant huntingtin influences caspase-6 activation in vivo
-
Graham RK, Deng Y, Carroll J, Vaid K, Cowan C, et al. (2006) Cleavage at the 586 amino acid caspase-6 site in mutant huntingtin influences caspase-6 activation in vivo. J Neurosci 30: 15019-15029.
-
(2006)
J Neurosci
, vol.30
, pp. 15019-15029
-
-
Graham, R.K.1
Deng, Y.2
Carroll, J.3
Vaid, K.4
Cowan, C.5
-
12
-
-
0035947372
-
Impairment of the ubiquitin-proteasome system by protein aggregation
-
Bence NF, Sampat RM, Kopito RR, (2001) Impairment of the ubiquitin-proteasome system by protein aggregation. Science 292: 1552-1555.
-
(2001)
Science
, vol.292
, pp. 1552-1555
-
-
Bence, N.F.1
Sampat, R.M.2
Kopito, R.R.3
-
13
-
-
77951665859
-
Cargo recognition failure is responsible for inefficient autophagy in Huntington's disease
-
Martinez-Vicente M, Talloczy Z, Wong E, Tang G, Koga H, et al. (2010) Cargo recognition failure is responsible for inefficient autophagy in Huntington's disease. Nat Neurosci 13: 567-576.
-
(2010)
Nat Neurosci
, vol.13
, pp. 567-576
-
-
Martinez-Vicente, M.1
Talloczy, Z.2
Wong, E.3
Tang, G.4
Koga, H.5
-
14
-
-
0034703874
-
Intranuclear huntingtin increases the expression of caspase-1 and induces apoptosis
-
Li SH, Lam S, Cheng AL, Li XJ, (2000) Intranuclear huntingtin increases the expression of caspase-1 and induces apoptosis. Hum Mol Genet 9: 2859-2867.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2859-2867
-
-
Li, S.H.1
Lam, S.2
Cheng, A.L.3
Li, X.J.4
-
15
-
-
0029875381
-
Mitochondrial defect in Huntington's disease caudate nucleus
-
Gu M, Gash MT, Mann VM, Javoy-Agid F, Cooper JM, et al. (1996) Mitochondrial defect in Huntington's disease caudate nucleus. Ann Neurol 39: 385-389.
-
(1996)
Ann Neurol
, vol.39
, pp. 385-389
-
-
Gu, M.1
Gash, M.T.2
Mann, V.M.3
Javoy-Agid, F.4
Cooper, J.M.5
-
16
-
-
41149120252
-
Systematic assessment of BDNF and its receptor levels in human cortices affected by Huntington's disease
-
Zuccato C, Marullo M, Conforti P, MacDonald ME, Tartari M, et al. (2008) Systematic assessment of BDNF and its receptor levels in human cortices affected by Huntington's disease. Brain Pathol 18: 225-238.
-
(2008)
Brain Pathol
, vol.18
, pp. 225-238
-
-
Zuccato, C.1
Marullo, M.2
Conforti, P.3
MacDonald, M.E.4
Tartari, M.5
-
17
-
-
27344444843
-
Dysfunction of the cholesterol biosynthetic pathway in Huntington's disease
-
Valenza M, Rigamonti D, Goffredo D, Zuccato C, Fenu S, et al. (2005) Dysfunction of the cholesterol biosynthetic pathway in Huntington's disease. J Neurosci 25: 9932-9939.
-
(2005)
J Neurosci
, vol.25
, pp. 9932-9939
-
-
Valenza, M.1
Rigamonti, D.2
Goffredo, D.3
Zuccato, C.4
Fenu, S.5
-
18
-
-
34047100940
-
N-methyl-D-aspartate (NMDA) receptor function and excitotoxicity in Huntington's disease
-
Fan MM, Raymond LA, (2007) N-methyl-D-aspartate (NMDA) receptor function and excitotoxicity in Huntington's disease. Prog Neurobiol 81: 272-293.
-
(2007)
Prog Neurobiol
, vol.81
, pp. 272-293
-
-
Fan, M.M.1
Raymond, L.A.2
-
19
-
-
0034702030
-
Decreased expression of striatal signaling genes in a mouse model of Huntington's disease
-
Luthi-Carter R, Strand A, Peters NL, Solano SM, Hollingsworth ZR, et al. (2000) Decreased expression of striatal signaling genes in a mouse model of Huntington's disease. Hum Mol Genet 9: 1259-1271.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1259-1271
-
-
Luthi-Carter, R.1
Strand, A.2
Peters, N.L.3
Solano, S.M.4
Hollingsworth, Z.R.5
-
20
-
-
77952316271
-
Transcriptional changes in Huntington disease identified using genome-wide expression profiling and cross-platform analysis
-
Becanovic K, Pouladi MA, Lim RS, Kuhn A, Pavlidis P, et al. (2010) Transcriptional changes in Huntington disease identified using genome-wide expression profiling and cross-platform analysis. Hum Mol Genet 19: 1438-1452.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 1438-1452
-
-
Becanovic, K.1
Pouladi, M.A.2
Lim, R.S.3
Kuhn, A.4
Pavlidis, P.5
-
21
-
-
41749121925
-
Brain gene expression correlates with changes in behavior in the R6/1 mouse model of Huntington's disease
-
Hodges A, Hughes G, Brooks S, Elliston L, Holmans P, et al. (2008) Brain gene expression correlates with changes in behavior in the R6/1 mouse model of Huntington's disease. Genes Brain Behav 7: 288-299.
-
(2008)
Genes Brain Behav
, vol.7
, pp. 288-299
-
-
Hodges, A.1
Hughes, G.2
Brooks, S.3
Elliston, L.4
Holmans, P.5
-
22
-
-
0032833981
-
Aberrant interactions of transcriptional repressor proteins with the Huntington's disease gene product, huntingtin
-
Boutell JM, Thomas P, Neal JW, Weston VJ, Duce J, et al. (1999) Aberrant interactions of transcriptional repressor proteins with the Huntington's disease gene product, huntingtin. Hum Mol Genet 8: 1647-1655.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1647-1655
-
-
Boutell, J.M.1
Thomas, P.2
Neal, J.W.3
Weston, V.J.4
Duce, J.5
-
23
-
-
0031662269
-
Huntingtin interacts with a family of WW domain proteins
-
Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF, et al. (1998) Huntingtin interacts with a family of WW domain proteins. Hum Mol Genet 7: 1463-1474.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1463-1474
-
-
Faber, P.W.1
Barnes, G.T.2
Srinidhi, J.3
Chen, J.4
Gusella, J.F.5
-
24
-
-
12944263711
-
The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription
-
Steffan JS, Kazantsev A, Spasic-Boskovic O, Greenwald M, Zhu YZ, et al. (2000) The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription. Proc Natl Acad Sci U S A 97: 6763-6768.
-
(2000)
Proc Natl Acad Sci U S A
, vol.97
, pp. 6763-6768
-
-
Steffan, J.S.1
Kazantsev, A.2
Spasic-Boskovic, O.3
Greenwald, M.4
Zhu, Y.Z.5
-
25
-
-
0036173896
-
Interaction of Huntington disease protein with transcriptional activator Sp1
-
Li SH, Cheng AL, Zhou H, Lam S, Rao M, et al. (2002) Interaction of Huntington disease protein with transcriptional activator Sp1. Mol Cell Biol 22: 1277-1287.
-
(2002)
Mol Cell Biol
, vol.22
, pp. 1277-1287
-
-
Li, S.H.1
Cheng, A.L.2
Zhou, H.3
Lam, S.4
Rao, M.5
-
26
-
-
3042717240
-
Cellular toxicity of polyglutamine expansion proteins: mechanism of transcription factor deactivation
-
Schaffar G, Breuer P, Boteva R, Behrends C, Tzvetkov N, et al. (2004) Cellular toxicity of polyglutamine expansion proteins: mechanism of transcription factor deactivation. Mol Cell 15: 95-105.
-
(2004)
Mol Cell
, vol.15
, pp. 95-105
-
-
Schaffar, G.1
Breuer, P.2
Boteva, R.3
Behrends, C.4
Tzvetkov, N.5
-
27
-
-
30744439549
-
Progressive phenotype and nuclear accumulation of an amino-terminal cleavage fragment in a transgenic mouse model with inducible expression of full-length mutant huntingtin
-
Tanaka Y, Igarashi S, Nakamura M, Gafni J, Torcassi C, et al. (2006) Progressive phenotype and nuclear accumulation of an amino-terminal cleavage fragment in a transgenic mouse model with inducible expression of full-length mutant huntingtin. Neurobiol Dis 21: 381-391.
-
(2006)
Neurobiol Dis
, vol.21
, pp. 381-391
-
-
Tanaka, Y.1
Igarashi, S.2
Nakamura, M.3
Gafni, J.4
Torcassi, C.5
-
28
-
-
4644231870
-
A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease
-
Goehler H, Lalowski M, Stelzl U, Waelter S, Stroedicke M, et al. (2004) A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease. Mol Cell 15: 853-865.
-
(2004)
Mol Cell
, vol.15
, pp. 853-865
-
-
Goehler, H.1
Lalowski, M.2
Stelzl, U.3
Waelter, S.4
Stroedicke, M.5
-
29
-
-
0037150687
-
Sp1 and TAFII130 transcriptional activity disrupted in early Huntington's disease
-
Dunah AW, Jeong H, Griffin A, Kim YM, Standaert DG, et al. (2002) Sp1 and TAFII130 transcriptional activity disrupted in early Huntington's disease. Science 296: 2238-2243.
-
(2002)
Science
, vol.296
, pp. 2238-2243
-
-
Dunah, A.W.1
Jeong, H.2
Griffin, A.3
Kim, Y.M.4
Standaert, D.G.5
-
30
-
-
29244462838
-
In vitro analysis of huntingtin-mediated transcriptional repression reveals multiple transcription factor targets
-
Zhai W, Jeong H, Cui L, Krainc D, Tjian R, (2005) In vitro analysis of huntingtin-mediated transcriptional repression reveals multiple transcription factor targets. Cell 123: 1241-1253.
-
(2005)
Cell
, vol.123
, pp. 1241-1253
-
-
Zhai, W.1
Jeong, H.2
Cui, L.3
Krainc, D.4
Tjian, R.5
-
31
-
-
29144483939
-
Occupancy of the Drosophila hsp70 promoter by a subset of basal transcription factors diminishes upon transcriptional activation
-
Lebedeva LA, Nabirochkina EN, Kurshakova MM, Robert F, Krasnov AN, et al. (2005) Occupancy of the Drosophila hsp70 promoter by a subset of basal transcription factors diminishes upon transcriptional activation. Proc Natl Acad Sci U S A 102: 18087-18092.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 18087-18092
-
-
Lebedeva, L.A.1
Nabirochkina, E.N.2
Kurshakova, M.M.3
Robert, F.4
Krasnov, A.N.5
-
32
-
-
0034657112
-
Wild-type huntingtin protects from apoptosis upstream of caspase-3
-
Rigamonti D, Bauer JH, De-Fraja C, Conti L, Sipione S, et al. (2000) Wild-type huntingtin protects from apoptosis upstream of caspase-3. J Neurosci 20: 3705-3713.
-
(2000)
J Neurosci
, vol.20
, pp. 3705-3713
-
-
Rigamonti, D.1
Bauer, J.H.2
De-Fraja, C.3
Conti, L.4
Sipione, S.5
-
33
-
-
33645350633
-
Brain-specific factors in combination with mutant huntingtin induce gene-specific transcriptional dysregulation
-
Gomez GT, Hu H, McCaw EA, Denovan-Wright EM, (2006) Brain-specific factors in combination with mutant huntingtin induce gene-specific transcriptional dysregulation. Mol Cell Neurosci 31: 661-675.
-
(2006)
Mol Cell Neurosci
, vol.31
, pp. 661-675
-
-
Gomez, G.T.1
Hu, H.2
McCaw, E.A.3
Denovan-Wright, E.M.4
-
35
-
-
17144386565
-
cAMP-response element-binding protein contributes to suppression of the A2A adenosine receptor promoter by mutant Huntingtin with expanded polyglutamine residues
-
Chiang MC, Lee YC, Huang CL, Chern Y, (2005) cAMP-response element-binding protein contributes to suppression of the A2A adenosine receptor promoter by mutant Huntingtin with expanded polyglutamine residues. J Biol Chem 280: 14331-14340.
-
(2005)
J Biol Chem
, vol.280
, pp. 14331-14340
-
-
Chiang, M.C.1
Lee, Y.C.2
Huang, C.L.3
Chern, Y.4
-
36
-
-
34047184385
-
Dysregulation of C/EBPalpha by mutant Huntingtin causes the urea cycle deficiency in Huntington's disease
-
Chiang MC, Chen HM, Lee YH, Chang HH, Wu YC, et al. (2007) Dysregulation of C/EBPalpha by mutant Huntingtin causes the urea cycle deficiency in Huntington's disease. Hum Mol Genet 16: 483-498.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 483-498
-
-
Chiang, M.C.1
Chen, H.M.2
Lee, Y.H.3
Chang, H.H.4
Wu, Y.C.5
-
37
-
-
33646137562
-
Decreased association of the transcription factor Sp1 with genes downregulated in Huntington's disease
-
Chen-Plotkin AS, Sadri-Vakili G, Yohrling GJ, Braveman MW, Benn CL, et al. (2006) Decreased association of the transcription factor Sp1 with genes downregulated in Huntington's disease. Neurobiol Dis 22: 233-241.
-
(2006)
Neurobiol Dis
, vol.22
, pp. 233-241
-
-
Chen-Plotkin, A.S.1
Sadri-Vakili, G.2
Yohrling, G.J.3
Braveman, M.W.4
Benn, C.L.5
-
38
-
-
54849422301
-
Huntingtin modulates transcription, occupies gene promoters in vivo, and binds directly to DNA in a polyglutamine-dependent manner
-
Benn CL, Sun T, Sadri-Vakili G, McFarland KN, DiRocco DP, et al. (2008) Huntingtin modulates transcription, occupies gene promoters in vivo, and binds directly to DNA in a polyglutamine-dependent manner. J Neurosci 27: 10720-10733.
-
(2008)
J Neurosci
, vol.27
, pp. 10720-10733
-
-
Benn, C.L.1
Sun, T.2
Sadri-Vakili, G.3
McFarland, K.N.4
DiRocco, D.P.5
-
39
-
-
33749042331
-
Transcriptional repression of PGC-1alpha by mutant huntingtin leads to mitochondrial dysfunction and neurodegeneration
-
Cui L, Jeong H, Borovecki F, Parkhurst CN, Tanese N, et al. (2006) Transcriptional repression of PGC-1alpha by mutant huntingtin leads to mitochondrial dysfunction and neurodegeneration. Cell 127: 59-69.
-
(2006)
Cell
, vol.127
, pp. 59-69
-
-
Cui, L.1
Jeong, H.2
Borovecki, F.3
Parkhurst, C.N.4
Tanese, N.5
-
40
-
-
27544477225
-
Contribution of nuclear and extranuclear polyQ to neurological phenotypes in mouse models of Huntington's disease
-
Benn CL, Landles C, Li H, Strand AD, Woodman B, et al. (2005) Contribution of nuclear and extranuclear polyQ to neurological phenotypes in mouse models of Huntington's disease. Hum Mol Genet 14: 3065-3078.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 3065-3078
-
-
Benn, C.L.1
Landles, C.2
Li, H.3
Strand, A.D.4
Woodman, B.5
-
41
-
-
78149487690
-
Cleavage at the 586 amino acid caspase-6 site in mutant huntingtin influences caspase-6 activation in vivo
-
Graham RK, Deng Y, Carroll J, Vaid K, Cowan C, et al. (2010) Cleavage at the 586 amino acid caspase-6 site in mutant huntingtin influences caspase-6 activation in vivo. J Neurosci 30: 15019-15029.
-
(2010)
J Neurosci
, vol.30
, pp. 15019-15029
-
-
Graham, R.K.1
Deng, Y.2
Carroll, J.3
Vaid, K.4
Cowan, C.5
-
42
-
-
79959376288
-
Kinase inhibitors modulate huntingtin cell localization and toxicity
-
Atwal RS, Desmond CR, Caron N, Maiuri T, Xia J, et al. (2011) Kinase inhibitors modulate huntingtin cell localization and toxicity. Nat Chem Biol 7: 453-460.
-
(2011)
Nat Chem Biol
, vol.7
, pp. 453-460
-
-
Atwal, R.S.1
Desmond, C.R.2
Caron, N.3
Maiuri, T.4
Xia, J.5
|