-
2
-
-
7244236320
-
Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death
-
DOI 10.1038/nature02998
-
Arrasate M, Mitra S, Schweitzer ES, Segal MR, Finkbeiner S (2004) Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death. Nature 431:805-810. (Pubitemid 39434070)
-
(2004)
Nature
, vol.431
, Issue.7010
, pp. 805-810
-
-
Arrasate, M.1
Mitra, S.2
Schweitzer, E.S.3
Segal, M.R.4
Finkbeiner, S.5
-
3
-
-
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, Sathasivam K, Li SH, Ghazi-Noori S, Hockly E, Faruque SM, Cha JH, Sharpe PT, Olson JM, Li XJ, Bates GP (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
Sathasivam, K.6
Li, S.H.7
Ghazi-Noori, S.8
Hockly, E.9
Faruque, S.M.10
Cha, J.H.11
Sharpe, P.T.12
Olson, J.M.13
Li, X.J.14
Bates, G.P.15
-
4
-
-
13244258435
-
Global impairment of the ubiquitin-proteasome system by nuclear or cytoplasmic protein aggregates precedes inclusion body formation
-
Bennett EJ, Bence NF, Jayakumar R, Kopito RR (2005) Global impairment of the ubiquitin-proteasome system by nuclear or cytoplasmic protein aggregates precedes inclusion body formation. Mol Cell 17:351-365.
-
(2005)
Mol Cell
, vol.17
, pp. 351-365
-
-
Bennett, E.J.1
Bence, N.F.2
Jayakumar, R.3
Kopito, R.R.4
-
6
-
-
0037551741
-
Protofibrils, pores, fibrils, and neurodegeneration: Separating the responsible protein aggregates from the innocent bystanders
-
Caughey B, Lansbury PT (2003) Protofibrils, pores, fibrils, and neurodegeneration: separating the responsible protein aggregates from the innocent bystanders. Annu Rev Neurosci 26:267-298.
-
(2003)
Annu Rev Neurosci
, vol.26
, pp. 267-298
-
-
Caughey, B.1
Lansbury, P.T.2
-
7
-
-
0037062561
-
Amyloidlike features of polyglutamine aggregates and their assembly kinetics
-
Chen S, Berthelier V, Hamilton JB, O'Nuallain B, Wetzel R (2002) Amyloidlike features of polyglutamine aggregates and their assembly kinetics. Biochemistry 41:7391-7399.
-
(2002)
Biochemistry
, vol.41
, pp. 7391-7399
-
-
Chen, S.1
Berthelier, V.2
Hamilton, J.B.3
O'Nuallain, B.4
Wetzel, R.5
-
8
-
-
13244270234
-
Heterogeneous cellular environments modulate one-hit neuronal death kinetics
-
Clarke G, Lumsden CJ (2005a) Heterogeneous cellular environments modulate one-hit neuronal death kinetics. Brain Res Bull 65:59-67.
-
(2005)
Brain Res Bull
, vol.65
, pp. 59-67
-
-
Clarke, G.1
Lumsden, C.J.2
-
9
-
-
14644443519
-
Scale-free neurodegeneration: Cellular heterogeneity and the stretched exponential kinetics of cell death
-
Clarke G, Lumsden CJ (2005b) Scale-free neurodegeneration: cellular heterogeneity and the stretched exponential kinetics of cell death. J Theor Biol 233:515-525.
-
(2005)
J Theor Biol
, vol.233
, pp. 515-525
-
-
Clarke, G.1
Lumsden, C.J.2
-
10
-
-
0034644203
-
A one-hit model of cell death in inherited neuronal degenerations
-
Clarke G, Collins RA, Leavitt BR, Andrews DF, Hayden MR, Lumsden CJ, McInnes RR (2000) A one-hit model of cell death in inherited neuronal degenerations. Nature 406:195-199.
-
(2000)
Nature
, vol.406
, pp. 195-199
-
-
Clarke, G.1
Collins, R.A.2
Leavitt, B.R.3
Andrews, D.F.4
Hayden, M.R.5
Lumsden, C.J.6
McInnes, R.R.7
-
11
-
-
33646884427
-
Stochastic kinetics of intracellular huntingtin aggregate formation
-
Colby DW, Cassady JP, Lin GC, Ingram VM, Wittrup KD (2006) Stochastic kinetics of intracellular huntingtin aggregate formation. Nat Chem Biol 2:319-323.
-
(2006)
Nat Chem Biol
, vol.2
, pp. 319-323
-
-
Colby, D.W.1
Cassady, J.P.2
Lin, G.C.3
Ingram, V.M.4
Wittrup, K.D.5
-
12
-
-
0033391428
-
Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamineinduced pathology in SCA1 mice
-
Cummings CJ, Reinstein E, Sun Y, Antalffy B, Jiang Y, Ciechanover A, Orr HT, Beaudet AL, Zoghbi HY (1999) Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamineinduced pathology in SCA1 mice. Neuron 24:879-892.
-
(1999)
Neuron
, vol.24
, pp. 879-892
-
-
Cummings, C.J.1
Reinstein, E.2
Sun, Y.3
Antalffy, B.4
Jiang, Y.5
Ciechanover, A.6
Orr, H.T.7
Beaudet, A.L.8
Zoghbi, H.Y.9
-
13
-
-
33745239787
-
Biologically active molecules that reduce polyglutamine aggregation and toxicity
-
Desai UA, Pallos J, Ma AA, Stockwell BR, Thompson LM, Marsh JL, Diamond MI (2006) Biologically active molecules that reduce polyglutamine aggregation and toxicity. Hum Mol Genet 15:2114-2124.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 2114-2124
-
-
Desai, U.A.1
Pallos, J.2
Ma, A.A.3
Stockwell, B.R.4
Thompson, L.M.5
Marsh, J.L.6
Diamond, M.I.7
-
14
-
-
0030752709
-
Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain
-
DiFiglia M, Sapp E, Chase KO, Davies SW, Bates GP, Vonsattel JP, Aronin N (1997) Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 277:1990-1993.
-
(1997)
Science
, vol.277
, 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
-
15
-
-
38749118671
-
Does the effect of PM10 on mortality depend on PM nickel and vanadium content? A reanalysis of the NMMAPS data
-
Dominici F, Peng RD, Ebisu K, Zeger SL, Samet JM, Bell ML (2007) Does the effect of PM10 on mortality depend on PM nickel and vanadium content? A reanalysis of the NMMAPS data. Environ Health Perspect 115:1701-1703.
-
(2007)
Environ Health Perspect
, vol.115
, pp. 1701-1703
-
-
Dominici, F.1
Peng, R.D.2
Ebisu, K.3
Zeger, S.L.4
Samet, J.M.5
Bell, M.L.6
-
16
-
-
0029040355
-
In situ evidence for DNA fragmentation in Huntington's disease striatum and Alzheimer's disease temporal lobes
-
Dragunow M, Faull RL, Lawlor P, Beilharz EJ, Singleton K, Walker EB, Mee E (1995) In situ evidence for DNA fragmentation in Huntington's disease striatum and Alzheimer's disease temporal lobes. Neuroreport 6:1053-1057.
-
(1995)
Neuroreport
, vol.6
, pp. 1053-1057
-
-
Dragunow, M.1
Faull, R.L.2
Lawlor, P.3
Beilharz, E.J.4
Singleton, K.5
Walker, E.B.6
Mee, E.7
-
18
-
-
33644850056
-
Progressive disruption of cellular protein folding in models of polyglutamine diseases
-
Gidalevitz T, Ben-Zvi A, Ho KH, Brignull HR, Morimoto RI (2006) Progressive disruption of cellular protein folding in models of polyglutamine diseases. Science 311:1471-1474.
-
(2006)
Science
, vol.311
, pp. 1471-1474
-
-
Gidalevitz, T.1
Ben-Zvi, A.2
Ho, K.H.3
Brignull, H.R.4
Morimoto, R.I.5
-
19
-
-
33344463679
-
Common mechanisms of amyloid oligomer pathogenesis in degenerative disease
-
Glabe CG (2006) Common mechanisms of amyloid oligomer pathogenesis in degenerative disease. Neurobiol Aging 27:570-575.
-
(2006)
Neurobiol Aging
, vol.27
, pp. 570-575
-
-
Glabe, C.G.1
-
20
-
-
0033119123
-
Nuclear and neuropil aggregates in Huntington's disease: Relationship to neuropathology
-
Gutekunst CA, Li SH, Yi H, Mulroy JS, Kuemmerle S, Jones R, Rye D, Ferrante RJ, Hersch SM, Li XJ (1999) Nuclear and neuropil aggregates in Huntington's disease: relationship to neuropathology. J Neurosci 19:2522-2534.
-
(1999)
J Neurosci
, vol.19
, pp. 2522-2534
-
-
Gutekunst, C.A.1
Li, S.H.2
Yi, H.3
Mulroy, J.S.4
Kuemmerle, S.5
Jones, R.6
Rye, D.7
Ferrante, R.J.8
Hersch, S.M.9
Li, X.J.10
-
21
-
-
20244378556
-
RNA interference improves motor and neuropathological abnormalities in a Huntington's disease mouse model
-
Harper SQ, Staber PD, He X, Eliason SL, Martins IH, Mao Q, Yang L, Kotin RM, Paulson HL, Davidson BL (2005) RNA interference improves motor and neuropathological abnormalities in a Huntington's disease mouse model. Proc Natl Acad Sci U S A 102:5820-5825.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 5820-5825
-
-
Harper, S.Q.1
Staber, P.D.2
He, X.3
Eliason, S.L.4
Martins, I.H.5
Mao, Q.6
Yang, L.7
Kotin, R.M.8
Paulson, H.L.9
Davidson, B.L.10
-
22
-
-
0036083379
-
The IGF-1/Akt pathway is neuroprotective in Huntington's disease and involves huntingtin phosphorylation by Akt
-
Humbert S, Bryson EA, Cordelières FP, Connors NC, Datta SR, Finkbeiner S, Greenberg ME, Saudou F (2002) The IGF-1/Akt pathway is neuroprotective in Huntington's disease and involves huntingtin phosphorylation by Akt. Dev Cell 2:831-837.
-
(2002)
Dev Cell
, vol.2
, pp. 831-837
-
-
Humbert, S.1
Bryson, E.A.2
Cordelières, F.P.3
Connors, N.C.4
Datta, S.R.5
Finkbeiner, S.6
Greenberg, M.E.7
Saudou, F.8
-
23
-
-
8744220663
-
Permeabilization of lipid bilayers is a common conformation-dependent activity of soluble amyloid oligomers in protein misfolding diseases
-
Kayed R, Sokolov Y, Edmonds B, McIntire TM, Milton SC, Hall JE, Glabe CG (2004) Permeabilization of lipid bilayers is a common conformation-dependent activity of soluble amyloid oligomers in protein misfolding diseases. J Biol Chem 279:46363-46366.
-
(2004)
J Biol Chem
, vol.279
, pp. 46363-46366
-
-
Kayed, R.1
Sokolov, Y.2
Edmonds, B.3
McIntire, T.M.4
Milton, S.C.5
Hall, J.E.6
Glabe, C.G.7
-
24
-
-
0032590053
-
Huntingtin aggregates may not predict neuronal death in Huntington's disease
-
Kuemmerle S, Gutekunst CA, Klein AM, Li XJ, Li SH, Beal MF, Hersch SM, Ferrante RJ (1999) Huntingtin aggregates may not predict neuronal death in Huntington's disease. Ann Neurol 46:842-849.
-
(1999)
Ann Neurol
, vol.46
, pp. 842-849
-
-
Kuemmerle, S.1
Gutekunst, C.A.2
Klein, A.M.3
Li, X.J.4
Li, S.H.5
Beal, M.F.6
Hersch, S.M.7
Ferrante, R.J.8
-
25
-
-
69249139853
-
Monoclonal antibodies recognize distinct conformational epitopes formed by polyglutamine in a mutant huntingtin fragment
-
Legleiter J, Lotz GP, Miller J, Ko J, Ng C, Williams GL, Finkbeiner S, Patterson PH, Muchowski PJ (2009) Monoclonal antibodies recognize distinct conformational epitopes formed by polyglutamine in a mutant huntingtin fragment. J Biol Chem 284:21647-21658.
-
(2009)
J Biol Chem
, vol.284
, pp. 21647-21658
-
-
Legleiter, J.1
Lotz, G.P.2
Miller, J.3
Ko, J.4
Ng, C.5
Williams, G.L.6
Finkbeiner, S.7
Patterson, P.H.8
Muchowski, P.J.9
-
26
-
-
2342485108
-
Proteasome degrades soluble expanded polyglutamine completely and efficiently
-
Michalik A, Van Broeckhoven C (2004) Proteasome degrades soluble expanded polyglutamine completely and efficiently. Neurobiol Dis 16:202-211.
-
(2004)
Neurobiol Dis
, vol.16
, pp. 202-211
-
-
Michalik, A.1
Van Broeckhoven, C.2
-
27
-
-
63249135140
-
Single neuron ubiquitinproteasome dynamics accompanying inclusion body formation in Huntington's disease
-
Mitra S, Tsvetkov AS, Finkbeiner S (2009) Single neuron ubiquitinproteasome dynamics accompanying inclusion body formation in Huntington's disease. J Biol Chem 284:4398-4403.
-
(2009)
J Biol Chem
, vol.284
, pp. 4398-4403
-
-
Mitra, S.1
Tsvetkov, A.S.2
Finkbeiner, S.3
-
28
-
-
0023865274
-
Clinical and neuropathologic assessment of severity in Huntington's disease
-
Myers RH, Vonsattel JP, Stevens TJ, Cupples LA, Richardson EP, Martin JB, Bird ED (1988) Clinical and neuropathologic assessment of severity in Huntington's disease. Neurology 38:341-347.
-
(1988)
Neurology
, vol.38
, pp. 341-347
-
-
Myers, R.H.1
Vonsattel, J.P.2
Stevens, T.J.3
Cupples, L.A.4
Richardson, E.P.5
Martin, J.B.6
Bird, E.D.7
-
29
-
-
34247247115
-
A toxic monomeric conformer of the polyglutamine protein
-
Nagai Y, Inui T, Popiel HA, Fujikake N, Hasegawa K, Urade Y, Goto Y, Naiki H, Toda T (2007) A toxic monomeric conformer of the polyglutamine protein. Nat Struct Mol Biol 14:332-340.
-
(2007)
Nat Struct Mol Biol
, vol.14
, pp. 332-340
-
-
Nagai, Y.1
Inui, T.2
Popiel, H.A.3
Fujikake, N.4
Hasegawa, K.5
Urade, Y.6
Goto, Y.7
Naiki, H.8
Toda, T.9
-
30
-
-
34547692622
-
Trinucleotide repeat disorders
-
Orr HT, Zoghbi HY (2007) Trinucleotide repeat disorders. Annu Rev Neurosci 30:575-621.
-
(2007)
Annu Rev Neurosci
, vol.30
, pp. 575-621
-
-
Orr, H.T.1
Zoghbi, H.Y.2
-
31
-
-
52649139552
-
The relationship between CAG repeat length and clinical progression in Huntington's disease
-
Ravina B, Romer M, Constantinescu R, Biglan K, Brocht A, Kieburtz K, Shoulson I, McDermott MP (2008) The relationship between CAG repeat length and clinical progression in Huntington's disease. Mov Disord 23:1223-1237.
-
(2008)
Mov Disord
, vol.23
, pp. 1223-1237
-
-
Ravina, B.1
Romer, M.2
Constantinescu, R.3
Biglan, K.4
Brocht, A.5
Kieburtz, K.6
Shoulson, I.7
McDermott, M.P.8
-
32
-
-
0001589776
-
Differential loss of striatal projection neurons in Huntington disease
-
Reiner A, Albin RL, Anderson KD, D'Amato CJ, Penney JB, Young AB (1988) Differential loss of striatal projection neurons in Huntington disease. Proc Natl Acad Sci U S A 85:5733-5737.
-
(1988)
Proc Natl Acad Sci U S A
, vol.85
, pp. 5733-5737
-
-
Reiner, A.1
Albin, R.L.2
Anderson, K.D.3
D'Amato, C.J.4
Penney, J.B.5
Young, A.B.6
-
33
-
-
0029586383
-
Preferential loss of preproenkephalin versus preprotachykinin neurons from the striatum of Huntington's disease patients
-
Richfield EK, Maguire-Zeiss KA, Vonkeman HE, Voorn P (1995) Preferential loss of preproenkephalin versus preprotachykinin neurons from the striatum of Huntington's disease patients. Ann Neurol 38:852-861.
-
(1995)
Ann Neurol
, vol.38
, pp. 852-861
-
-
Richfield, E.K.1
Maguire-Zeiss, K.A.2
Vonkeman, H.E.3
Voorn, P.4
-
34
-
-
33646085784
-
The association of CAG repeat length with clinical progression in Huntington disease
-
Rosenblatt A, Liang KY, Zhou H, Abbott MH, Gourley LM, Margolis RL, Brandt J, Ross CA (2006) The association of CAG repeat length with clinical progression in Huntington disease. Neurology 66:1016-1020.
-
(2006)
Neurology
, vol.66
, pp. 1016-1020
-
-
Rosenblatt, A.1
Liang, K.Y.2
Zhou, H.3
Abbott, M.H.4
Gourley, L.M.5
Margolis, R.L.6
Brandt, J.7
Ross, C.A.8
-
35
-
-
38849104546
-
Longitudinal analysis of regional gray matter loss in Huntington disease: Effects of the length of the expanded CAG repeat
-
Ruocco HH, Bonilha L, Li LM, Lopes-Cendes I, Cendes F (2008) Longitudinal analysis of regional gray matter loss in Huntington disease: effects of the length of the expanded CAG repeat. J Neurol Neurosurg Psychiatry 79:130-135.
-
(2008)
J Neurol Neurosurg Psychiatry
, vol.79
, pp. 130-135
-
-
Ruocco, H.H.1
Bonilha, L.2
Li, L.M.3
Lopes-Cendes, I.4
Cendes, F.5
-
36
-
-
0028873186
-
Evidence for a preferential loss of enkephalin immunoreactivity in the external globus pallidus in low grade Huntington's disease using high resolution image analysis
-
Sapp E, Ge P, Aizawa H, Bird E, Penney J, Young AB, Vonsattel JP, DiFiglia M (1995) Evidence for a preferential loss of enkephalin immunoreactivity in the external globus pallidus in low grade Huntington's disease using high resolution image analysis. Neuroscience 64:397-404.
-
(1995)
Neuroscience
, vol.64
, pp. 397-404
-
-
Sapp, E.1
Ge, P.2
Aizawa, H.3
Bird, E.4
Penney, J.5
Young, A.B.6
Vonsattel, J.P.7
DiFiglia, M.8
-
37
-
-
0030771894
-
Huntingtin localization in brains of normal and Huntington's disease patients
-
Sapp E, Schwarz C, Chase K, Bhide PG, Young AB, Penney J, Vonsattel JP, Aronin N, DiFiglia M (1997) Huntingtin localization in brains of normal and Huntington's disease patients. Ann Neurol 42:604-612.
-
(1997)
Ann Neurol
, vol.42
, pp. 604-612
-
-
Sapp, E.1
Schwarz, C.2
Chase, K.3
Bhide, P.G.4
Young, A.B.5
Penney, J.6
Vonsattel, J.P.7
Aronin, N.8
DiFiglia, M.9
-
38
-
-
0032475931
-
Huntingtin acts in the nucleus to induce apoptosis, but death does not correlate with the formation of intranuclear inclusions
-
Saudou F, Finkbeiner S, Devys D, Greenberg ME (1998) Huntingtin acts in the nucleus to induce apoptosis, but death does not correlate with the formation of intranuclear inclusions. Cell 95:55-66.
-
(1998)
Cell
, vol.95
, pp. 55-66
-
-
Saudou, F.1
Finkbeiner, S.2
Devys, D.3
Greenberg, M.E.4
-
39
-
-
3042717240
-
Cellular toxicity of polyglutamine expansion proteins: Mechanism of transcription factor deactivation
-
Schaffar G, Breuer P, Boteva R, Behrends C, Tzvetkov N, Strippel N, Sakahira H, Siegers K, Hayer-Hartl M, Hartl FU (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
Strippel, N.6
Sakahira, H.7
Siegers, K.8
Hayer-Hartl, M.9
Hartl, F.U.10
-
40
-
-
4344636957
-
Nuclear-targeting of mutant huntingtin fragments produces Huntington's disease-like phenotypes in transgenic mice
-
Schilling G, Savonenko AV, Klevytska A, Morton JL, Tucker SM, Poirier M, Gale A, Chan N, Gonzales V, Slunt HH, Coonfield ML, Jenkins NA, Copeland NG, Ross CA, Borchelt DR (2004) Nuclear-targeting of mutant huntingtin fragments produces Huntington's disease-like phenotypes in transgenic mice. Hum Mol Genet 13:1599-1610.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 1599-1610
-
-
Schilling, G.1
Savonenko, A.V.2
Klevytska, A.3
Morton, J.L.4
Tucker, S.M.5
Poirier, M.6
Gale, A.7
Chan, N.8
Gonzales, V.9
Slunt, H.H.10
Coonfield, M.L.11
Jenkins, N.A.12
Copeland, N.G.13
Ross, C.A.14
Borchelt, D.R.15
-
41
-
-
11244324114
-
Early onset Huntington disease: A neuronal degeneration syndrome
-
Seneca S, Fagnart D, Keymolen K, Lissens W, Hasaerts D, Debulpaep S, Desprechins B, Liebaers I, De Meirleir L (2004) Early onset Huntington disease: a neuronal degeneration syndrome. Eur J Pediatr 163:717-721.
-
(2004)
Eur J Pediatr
, vol.163
, pp. 717-721
-
-
Seneca, S.1
Fagnart, D.2
Keymolen, K.3
Lissens, W.4
Hasaerts, D.5
Debulpaep, S.6
Desprechins, B.7
Liebaers, I.8
De Meirleir, L.9
-
42
-
-
0033037919
-
Huntington's disease intranuclear inclusions contain truncated, ubiquitinated huntingtin protein
-
Sieradzan KA, Mechan AO, Jones L, Wanker EE, Nukina N, Mann DM (1999) Huntington's disease intranuclear inclusions contain truncated, ubiquitinated huntingtin protein. Exp Neurol 156:92-99.
-
(1999)
Exp Neurol
, vol.156
, pp. 92-99
-
-
Sieradzan, K.A.1
Mechan, A.O.2
Jones, L.3
Wanker, E.E.4
Nukina, N.5
Mann, D.M.6
-
43
-
-
23844472610
-
Absence of behavioral abnormalities and neurodegeneration in vivo despite widespread neuronal huntingtin inclusions
-
Slow EJ, Graham RK, Osmand AP, Devon RS, Lu G, Deng Y, Pearson J, Vaid K, Bissada N, Wetzel R, Leavitt BR, Hayden MR (2005) Absence of behavioral abnormalities and neurodegeneration in vivo despite widespread neuronal huntingtin inclusions. Proc Natl Acad Sci U S A 102:11402-11407.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 11402-11407
-
-
Slow, E.J.1
Graham, R.K.2
Osmand, A.P.3
Devon, R.S.4
Lu, G.5
Deng, Y.6
Pearson, J.7
Vaid, K.8
Bissada, N.9
Wetzel, R.10
Leavitt, B.R.11
Hayden, M.R.12
-
44
-
-
0027261537
-
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease
-
Snell RG, MacMillan JC, Cheadle JP, Fenton I, Lazarou LP, Davies P, MacDonald ME, Gusella JF, Harper PS, Shaw DJ (1993) Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet 4:393-397.
-
(1993)
Nat Genet
, vol.4
, pp. 393-397
-
-
Snell, R.G.1
MacMillan, J.C.2
Cheadle, J.P.3
Fenton, I.4
Lazarou, L.P.5
Davies, P.6
MacDonald, M.E.7
Gusella, J.F.8
Harper, P.S.9
Shaw, D.J.10
-
45
-
-
0033941655
-
Atypical movement disorders in the early stages of Huntington's disease: Clinical and genetic analysis
-
Squitieri F, Berardelli A, Nargi E, Castellotti B, Mariotti C, Cannella M, Lavitrano ML, de Grazia U, Gellera C, Ruggieri S (2000) Atypical movement disorders in the early stages of Huntington's disease: clinical and genetic analysis. Clin Genet 58:50-56.
-
(2000)
Clin Genet
, vol.58
, pp. 50-56
-
-
Squitieri, F.1
Berardelli, A.2
Nargi, E.3
Castellotti, B.4
Mariotti, C.5
Cannella, M.6
Lavitrano, M.L.7
De Grazia, U.8
Gellera, C.9
Ruggieri, S.10
-
46
-
-
0037379416
-
Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course
-
Squitieri F, Gellera C, Cannella M, Mariotti C, Cislaghi G, Rubinsztein DC, Almqvist EW, Turner D, Bachoud-Lévi AC, Simpson SA, Delatycki M, Maglione V, Hayden MR, Donato SD (2003) Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course. Brain 126:946-955.
-
(2003)
Brain
, vol.126
, pp. 946-955
-
-
Squitieri, F.1
Gellera, C.2
Cannella, M.3
Mariotti, C.4
Cislaghi, G.5
Rubinsztein, D.C.6
Almqvist, E.W.7
Turner, D.8
Bachoud-Lévi, A.C.9
Simpson, S.A.10
Delatycki, M.11
Maglione, V.12
Hayden, M.R.13
Donato, S.D.14
-
47
-
-
31544447731
-
Juvenile Huntington's disease: Does a dosage-effect pathogenic mechanism differ from the classical adult disease?
-
Squitieri F, Frati L, Ciarmiello A, Lastoria S, Quarrell O (2006) Juvenile Huntington's disease: does a dosage-effect pathogenic mechanism differ from the classical adult disease? Mech Ageing Dev 127:208-212.
-
(2006)
Mech Ageing Dev
, vol.127
, pp. 208-212
-
-
Squitieri, F.1
Frati, L.2
Ciarmiello, A.3
Lastoria, S.4
Quarrell, O.5
-
48
-
-
68749086183
-
Nucleation of protein aggregation kinetics as a basis for genotype-phenotype correlations in polyglutamine diseases
-
Sugaya K, Matsubara S (2009) Nucleation of protein aggregation kinetics as a basis for genotype-phenotype correlations in polyglutamine diseases. Mol Neurodegener 4:29.
-
(2009)
Mol Neurodegener
, vol.4
, pp. 29
-
-
Sugaya, K.1
Matsubara, S.2
-
50
-
-
0022395922
-
Neuropathological classification of Huntington's disease
-
Vonsattel JP, Myers RH, Stevens TJ, Ferrante RJ, Bird ED, Richardson EP Jr (1985) Neuropathological classification of Huntington's disease. J Neuropathol Exp Neurol 44:559-577.
-
(1985)
J Neuropathol Exp Neurol
, vol.44
, pp. 559-577
-
-
Vonsattel, J.P.1
Myers, R.H.2
Stevens, T.J.3
Ferrante, R.J.4
Bird, E.D.5
Richardson Jr., E.P.6
-
51
-
-
16544383250
-
Hsp70 and Hsp40 attenuate formation of spherical and annular polyglutamine oligomers by partitioning monomer
-
Wacker JL, Zareie MH, Fong H, Sarikaya M, Muchowski PJ (2004) Hsp70 and Hsp40 attenuate formation of spherical and annular polyglutamine oligomers by partitioning monomer. Nat Struct Mol Biol 11:1215-1222.
-
(2004)
Nat Struct Mol Biol
, vol.11
, pp. 1215-1222
-
-
Wacker, J.L.1
Zareie, M.H.2
Fong, H.3
Sarikaya, M.4
Muchowski, P.J.5
-
52
-
-
20444448900
-
Huntingtin phosphorylation on serine 421 is significantly reduced in the striatum and by polyglutamine expansion in vivo
-
Warby SC, Chan EY, Metzler M, Gan L, Singaraja RR, Crocker SF, Robertson HA, Hayden MR (2005) Huntingtin phosphorylation on serine 421 is significantly reduced in the striatum and by polyglutamine expansion in vivo. Hum Mol Genet 14:1569-1577.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1569-1577
-
-
Warby, S.C.1
Chan, E.Y.2
Metzler, M.3
Gan, L.4
Singaraja, R.R.5
Crocker, S.F.6
Robertson, H.A.7
Hayden, M.R.8
-
53
-
-
0034737299
-
Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease
-
Yamamoto A, Lucas JJ, Hen R (2000) Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease. Cell 101:57-66.
-
(2000)
Cell
, vol.101
, pp. 57-66
-
-
Yamamoto, A.1
Lucas, J.J.2
Hen, R.3
-
54
-
-
0037421691
-
SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity
-
Yoo SY, Pennesi ME, Weeber EJ, Xu B, Atkinson R, Chen S, Armstrong DL, Wu SM, Sweatt JD, Zoghbi HY (2003) SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity. Neuron 37:383-401.
-
(2003)
Neuron
, vol.37
, pp. 383-401
-
-
Yoo, S.Y.1
Pennesi, M.E.2
Weeber, E.J.3
Xu, B.4
Atkinson, R.5
Chen, S.6
Armstrong, D.L.7
Wu, S.M.8
Sweatt, J.D.9
Zoghbi, H.Y.10
-
55
-
-
0346993604
-
Long-term lentiviral-mediated expression of ciliary neurotrophic factor in the striatum of Huntington's disease transgenic mice
-
Zala D, Bensadoun JC, Pereira de Almeida L, Leavitt BR, Gutekunst CA, Aebischer P, Hayden MR, Déglon N (2004) Long-term lentiviral-mediated expression of ciliary neurotrophic factor in the striatum of Huntington's disease transgenic mice. Exp Neurol 185:26-35.
-
(2004)
Exp Neurol
, vol.185
, pp. 26-35
-
-
Zala, D.1
Bensadoun, J.C.2
Pereira De Almeida, L.3
Leavitt, B.R.4
Gutekunst, C.A.5
Aebischer, P.6
Hayden, M.R.7
Déglon, N.8
-
56
-
-
20044390015
-
A potent small molecule inhibits polyglutamine aggregation in Huntington's disease neurons and suppresses neurodegeneration in vivo
-
Zhang X, Smith DL, Meriin AB, Engemann S, Russel DE, Roark M, Washington SL, Maxwell MM, Marsh JL, Thompson LM, Wanker EE, Young AB, Housman DE, Bates GP, Sherman MY, Kazantsev AG (2005) A potent small molecule inhibits polyglutamine aggregation in Huntington's disease neurons and suppresses neurodegeneration in vivo. Proc Natl Acad Sci U S A 102:892-897.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 892-897
-
-
Zhang, X.1
Smith, D.L.2
Meriin, A.B.3
Engemann, S.4
Russel, D.E.5
Roark, M.6
Washington, S.L.7
Maxwell, M.M.8
Marsh, J.L.9
Thompson, L.M.10
Wanker, E.E.11
Young, A.B.12
Housman, D.E.13
Bates, G.P.14
Sherman, M.Y.15
Kazantsev, A.G.16
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