-
1
-
-
0027714831
-
Mapping and cloning of the critical region for the spinocerebellar ataxia type 1 gene (SCA1) in a yeast artificial chromosome contig spanning 1.2 Mb.
-
Banfi S, Chung MY, Kwiatkowski TJ Jr, Ranum LP, McCall AE, Chinault AC, Orr HT, Zoghbi HY (1993) Mapping and cloning of the critical region for the spinocerebellar ataxia type 1 gene (SCA1) in a yeast artificial chromosome contig spanning 1.2 Mb. Genomics 18:627-635
-
(1993)
Genomics
, vol.18
, pp. 627-635
-
-
Banfi, S.1
Chung, M.Y.2
Kwiatkowski T.J., Jr.3
Ranum, L.P.4
McCall, A.E.5
Chinault, A.C.6
Orr, H.T.7
Zoghbi, H.Y.8
-
2
-
-
0028017992
-
Identification and characterization of the gene causing type 1 spinocerebellar ataxia
-
Banfi S, Servadio A, Chung MY, Kwiatkowski TJ Jr, McCall AE, Duvick LA, Shen Y, Roth EJ, Orr HT, Zoghbi HY (1994) Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet 7:513-520
-
(1994)
Nat Genet
, vol.7
, pp. 513-520
-
-
Banfi, S.1
Servadio, A.2
Chung, M.Y.3
Kwiatkowski T.J., Jr.4
Duvick, L.A.5
Shen, Y.6
Roth, E.J.7
Orr, H.T.8
Zoghbi, H.Y.9
-
3
-
-
0031918640
-
Intranuclear neuronal inclusions in Huntington's disease and dentatorubral and pallidoluysian atrophy: Correlation between the density of inclusions and IT15 CAG triplet repeat length
-
Becher MW, Kotzuk JA, Sharp AH, Davies SW, Bates GP, Price DL, Ross CA (1998) Intranuclear neuronal inclusions in Huntington's disease and dentatorubral and pallidoluysian atrophy: correlation between the density of inclusions and IT15 CAG triplet repeat length. Neurobiol Dis 4:387-397
-
(1998)
Neurobiol Dis
, vol.4
, pp. 387-397
-
-
Becher, M.W.1
Kotzuk, J.A.2
Sharp, A.H.3
Davies, S.W.4
Bates, G.P.5
Price, D.L.6
Ross, C.A.7
-
4
-
-
0028353818
-
Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I
-
Benomar A, LeGuern E, Dürr A, Ouhabi H, Stevanin G, Yahyaoui M, Chkili T, Agid Y, Brice A (1994) Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I. Ann Neurol 35:439-444
-
(1994)
Ann Neurol
, vol.35
, pp. 439-444
-
-
Benomar, A.1
LeGuern, E.2
Dürr, A.3
Ouhabi, H.4
Stevanin, G.5
Yahyaoui, M.6
Chkili, T.7
Agid, Y.8
Brice, A.9
-
5
-
-
0029031694
-
The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1
-
Benomar A, Krols L, Stevanin G, Cancel G, LeGuern E, David G, Ouhabi H, Martin JJ, Dürr A, Zaim A (1995) The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nat Genet 10: 84-88
-
(1995)
Nat Genet
, vol.10
, pp. 84-88
-
-
Benomar, A.1
Krols, L.2
Stevanin, G.3
Cancel, G.4
LeGuern, E.5
David, G.6
Ouhabi, H.7
Martin, J.J.8
Dürr, A.9
Zaim, A.10
-
6
-
-
0031714729
-
Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype
-
Benton CS, deSilva R, Rutledge SL, Bohlega S, Ashizawa T, Zoghbi HY (1998) Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype. Neurology 51:1081-1086
-
(1998)
Neurology
, vol.51
, pp. 1081-1086
-
-
Benton, C.S.1
DeSilva, R.2
Rutledge, S.L.3
Bohlega, S.4
Ashizawa, T.5
Zoghbi, H.Y.6
-
7
-
-
0028878844
-
Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice
-
Bingham PM, Scott MO, Wang S, McPhaul MJ, Wilson EM, Garbern JY, Merry DE, Fischbeck KH (1995) Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice. Nat Genet 9:191-196
-
(1995)
Nat Genet
, vol.9
, pp. 191-196
-
-
Bingham, P.M.1
Scott, M.O.2
Wang, S.3
McPhaul, M.J.4
Wilson, E.M.5
Garbern, J.Y.6
Merry, D.E.7
Fischbeck, K.H.8
-
8
-
-
0029664992
-
Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH
-
Burke JR, Enghild JJ, Martin ME, Jou YS, Myers RM, Roses AD, Vance JM, Strittmatter WJ (1996) Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH. Nat Med 2:347-350
-
(1996)
Nat Med
, vol.2
, pp. 347-350
-
-
Burke, J.R.1
Enghild, J.J.2
Martin, M.E.3
Jou, Y.S.4
Myers, R.M.5
Roses, A.D.6
Vance, J.M.7
Strittmatter, W.J.8
-
9
-
-
0029163222
-
SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat
-
Burright EN, Clark HB, Servadio A, Matilla T, Feddersen RM, Yunis WS, Duvick LA, Zoghbi HY, Orr HT (1995) SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell 82:937-948
-
(1995)
Cell
, vol.82
, pp. 937-948
-
-
Burright, E.N.1
Clark, H.B.2
Servadio, A.3
Matilla, T.4
Feddersen, R.M.5
Yunis, W.S.6
Duvick, L.A.7
Zoghbi, H.Y.8
Orr, H.T.9
-
10
-
-
0030933679
-
Identification of a self-association region within the SCA1 gene product, ataxin-1
-
Burright EN, Davidson JD, Duvick LA, Koshy B, Zoghbi HY, Orr HT (1997) Identification of a self-association region within the SCA1 gene product, ataxin-1. Hum Mol Genet 6:513-518
-
(1997)
Hum Mol Genet
, vol.6
, pp. 513-518
-
-
Burright, E.N.1
Davidson, J.D.2
Duvick, L.A.3
Koshy, B.4
Zoghbi, H.Y.5
Orr, H.T.6
-
11
-
-
0033030565
-
Evidence for proteasome involvement in polyglutamine disease: Localization to nuclear inclusions in SCA3/MJD and suppression of polyglutamine aggregation in vitro
-
Chai Y, Koppenhafer SL, Shoesmith SJ, Perez MK, Paulson HL (1999a) Evidence for proteasome involvement in polyglutamine disease: localization to nuclear inclusions in SCA3/MJD and suppression of polyglutamine aggregation in vitro. Hum Mol Genet 8:673-682
-
(1999)
Hum Mol Genet
, vol.8
, pp. 673-682
-
-
Chai, Y.1
Koppenhafer, S.L.2
Shoesmith, S.J.3
Perez, M.K.4
Paulson, H.L.5
-
12
-
-
0033499931
-
Analysis of the role of heat shock protein (Hsp) molecular chaperones in polyglutamine disease
-
Chai Y, Koppenhafer SL, Bonini NM, Paulson HL (1999b) Analysis of the role of heat shock protein (Hsp) molecular chaperones in polyglutamine disease. J Neurosci 19:10338-10347
-
(1999)
J Neurosci
, vol.19
, pp. 10338-10347
-
-
Chai, Y.1
Koppenhafer, S.L.2
Bonini, N.M.3
Paulson, H.L.4
-
13
-
-
0027495515
-
Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I
-
Chung MY, Ranum LP, Duvick LA, Servadio A, Zoghbi HY, Orr HT (1993) Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nat Genet 5:254-258
-
(1993)
Nat Genet
, vol.5
, pp. 254-258
-
-
Chung, M.Y.1
Ranum, L.P.2
Duvick, L.A.3
Servadio, A.4
Zoghbi, H.Y.5
Orr, H.T.6
-
14
-
-
0028018268
-
The ubiquitin-proteasome proteolytic pathway
-
Ciechanover A (1997) The ubiquitin-proteasome proteolytic pathway. Cell 79:13-21
-
(1997)
Cell
, vol.79
, pp. 13-21
-
-
Ciechanover, A.1
-
15
-
-
0026543380
-
Immunohistochemical labeling of androgen receptors in the brain of rat and monkey
-
Clancy AN, Bonsall RW, Michael RP (1992) Immunohistochemical labeling of androgen receptors in the brain of rat and monkey. Life Sci 50:409-417
-
(1992)
Life Sci
, vol.50
, pp. 409-417
-
-
Clancy, A.N.1
Bonsall, R.W.2
Michael, R.P.3
-
16
-
-
0030864463
-
Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations
-
Clark HB, Burright EN, Yunis WS, Larson S, Wilcox C, Hartman B, Matilla A, Zoghbi HY, Orr HT (1997) Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations. J Neurosci 17:7385-7395
-
(1997)
J Neurosci
, vol.17
, pp. 7385-7395
-
-
Clark, H.B.1
Burright, E.N.2
Yunis, W.S.3
Larson, S.4
Wilcox, C.5
Hartman, B.6
Matilla, A.7
Zoghbi, H.Y.8
Orr, H.T.9
-
17
-
-
7144253143
-
Truncated N-terminal fragments of huntingtin with expanded glutamine repeats form nuclear and cytoplasmic aggregates in cell culture
-
Cooper JK, Schilling G, Peters MF, Herring WJ, Sharp AH, Kaminsky Z, Masone J, Khan FA, Delanoy M, Borchelt DR, Dawson VL, Dawson TM, Ross CA (1998) Truncated N-terminal fragments of huntingtin with expanded glutamine repeats form nuclear and cytoplasmic aggregates in cell culture. Hum Mol Genet 7:783-790
-
(1998)
Hum Mol Genet
, vol.7
, pp. 783-790
-
-
Cooper, J.K.1
Schilling, G.2
Peters, M.F.3
Herring, W.J.4
Sharp, A.H.5
Masone, J.6
Khan, F.A.7
Delanoy, M.8
Borchelt, D.R.9
Dawson, V.L.10
Dawson, T.M.11
Ross, C.A.12
-
18
-
-
0031838352
-
Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1
-
Cummings CJ, Mancini MA, Antalffy B, DeFranco DB, Orr HT, Zoghbi HY (1998) Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1. Nat Genet 19:148-154
-
(1998)
Nat Genet
, vol.19
, pp. 148-154
-
-
Cummings, C.J.1
Mancini, M.A.2
Antalffy, B.3
DeFranco, D.B.4
Orr, H.T.5
Zoghbi, H.Y.6
-
19
-
-
16944364511
-
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
-
David G, Abbas N, Stevanin G, Dürr A, Yvert G, Cancel G, Weber C, Imbert G, Saudou F, Antoniou E, Drabkin H, Gemmill R, Giunti P, Benomar A, Wood N, Ruberg M, Agid Y, Mandel JL, Brice A (1997) Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 17:65-70
-
(1997)
Nat Genet
, vol.17
, pp. 65-70
-
-
David, G.1
Abbas, N.2
Stevanin, G.3
Dürr, A.4
Yvert, G.5
Cancel, G.6
Weber, C.7
Imbert, G.8
Saudou, F.9
Antoniou, E.10
Drabkin, H.11
Gemmill, R.12
Giunti, P.13
Benomar, A.14
Wood, N.15
Ruberg, M.16
Agid, Y.17
Mandel, J.L.18
Brice, A.19
-
20
-
-
6844254538
-
Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy
-
David G, Dürr A, Stevanin G, Cancel G, Abbas N, Benomar A, Belai S, Lebre AS, Abada-Bendib M, Grid D, Holmberg M, Yahyaoui M, Hentati F, Chkili T, Agid Y, Brice A (1998) Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy. Hum Mol Genet 7:165-170
-
(1998)
Hum Mol Genet
, vol.7
, pp. 165-170
-
-
David, G.1
Dürr, A.2
Stevanin, G.3
Cancel, G.4
Abbas, N.5
Benomar, A.6
Belai, S.7
Lebre, A.S.8
Abada-Bendib, M.9
Grid, D.10
Holmberg, M.11
Yahyaoui, M.12
Hentati, F.13
Chkili, T.14
Agid, Y.15
Brice, A.16
-
21
-
-
18544410106
-
Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation
-
Davies SW, Turmaine M, Cozens BA, DiFiglia M, Sharp AH, Ross CA, Scherzinger E, Wanker EE, Mangiarini L, Bates GP (1997) Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 90:537-548
-
(1997)
Cell
, vol.90
, pp. 537-548
-
-
Davies, S.W.1
Turmaine, M.2
Cozens, B.A.3
DiFiglia, M.4
Sharp, A.H.5
Ross, C.A.6
Scherzinger, E.7
Wanker, E.E.8
Mangiarini, L.9
Bates, G.P.10
-
22
-
-
6844239536
-
Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion
-
Del-Favero J, Krols L, Michalik A, Theuns J, Lofgren A, Goossens D, Wehnert A, Van den Bossche D, Van Zand K, Backhovens H, van Regenmorter N, Martin JJ, Van Broeckhoven C (1998) Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion. Hum Mol Genet 7:177-186
-
(1998)
Hum Mol Genet
, vol.7
, pp. 177-186
-
-
Del-Favero, J.1
Krols, L.2
Michalik, A.3
Theuns, J.4
Lofgren, A.5
Goossen, D.6
Wehnert, A.7
Van Den Bossche, D.8
Van Zand, K.9
Backhoven, H.10
Van Regenmorter, N.11
Martin, J.J.12
Van Broeckhoven, C.13
-
23
-
-
0343457526
-
Reversible phosphorylation of Bc12 following interleukin 3 or bryostatin 1 is mediated by direct interaction with protein phosphatase 2A
-
Deng X, Ito T, Carr B, Mumby M, May WS Jr (1998) Reversible phosphorylation of Bc12 following interleukin 3 or bryostatin 1 is mediated by direct interaction with protein phosphatase 2A. J Biol Chem 273:34157-34163
-
(1998)
J Biol Chem
, vol.273
, pp. 34157-34163
-
-
Deng, X.1
Ito, T.2
Carr, B.3
Mumby, M.4
May W.S., Jr.5
-
24
-
-
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
-
25
-
-
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
-
26
-
-
0029611008
-
Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families
-
Dürr A, Smadja D, Cancel G, Lezin A, Stevanin G, Mikol J, Bellance R, Buisson GG, Chneiweiss H, Dellanave J, Agid Y, Brice A, Vernant JC (1995) Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families. Brain 118:1573-1581
-
(1995)
Brain
, vol.118
, pp. 1573-1581
-
-
Dürr, A.1
Smadja, D.2
Cancel, G.3
Lezin, A.4
Stevanin, G.5
Mikol, J.6
Bellance, R.7
Buisson, G.G.8
Chneiweiss, H.9
Dellanave, J.10
Agid, Y.11
Brice, A.12
Vernant, J.C.13
-
27
-
-
9244225693
-
Spinocerebellar ataxia 3 and Machado-Joseph disease: Clinical, molecular, and neuropathological features
-
Dürr A, Stevanin G, Cancel G, Duyckaerts C, Abbas N, Didierjean O, Chneiweiss H, Benomar A, Lyon-Caen O, Julien J, Serdaru M, Penet C, Agid Y, Brice A (1996) Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol 39:490-499
-
(1996)
Ann Neurol
, vol.39
, pp. 490-499
-
-
Dürr, A.1
Stevanin, G.2
Cancel, G.3
Duyckaerts, C.4
Abbas, N.5
Didierjean, O.6
Chneiweiss, H.7
Benomar, A.8
Lyon-Caen, O.9
Julien, J.10
Serdaru, O.11
Penet, C.12
Agid, Y.13
Brice, A.14
-
28
-
-
0029082383
-
Inactivation of the mouse Huntington's disease gene homolog Hdh
-
Duyao MP, Auerbach AB, Ryan A, Persichetti F, Barnes GT, McNeil SM, Ge P, Vonsattel JP, Gusella JF, Joyner AL, MacDonald ME (1995) Inactivation of the mouse Huntington's disease gene homolog Hdh. Science 269:407-410
-
(1995)
Science
, vol.269
, pp. 407-410
-
-
Duyao, M.P.1
Auerbach, A.B.2
Ryan, A.3
Persichetti, F.4
Barnes, G.T.5
McNeil, S.M.6
Ge, P.7
Vonsattel, J.P.8
Gusella, J.F.9
Joyner, A.L.10
MacDonald, M.E.11
-
29
-
-
0032898311
-
Kennedy's disease: Caspase cleavage of the androgen receptor is a crucial event in cytotoxicity
-
Ellerby LM, Hackam AS, Propp SS, Ellerby HM, Rabizadeh S, Cashman NR, Trifiro MA, Pinsky L, Wellington CL, Salvesen GS, Hayden MR, Bredesen DE (1999a) Kennedy's disease: caspase cleavage of the androgen receptor is a crucial event in cytotoxicity. J Neurochem 72:185-195
-
(1999)
J Neurochem
, vol.72
, pp. 185-195
-
-
Ellerby, L.M.1
Hackam, A.S.2
Propp, S.S.3
Ellerby, H.M.4
Rabizadeh, S.5
Cashman, N.R.6
Trifiro, M.A.7
Pinsky, L.8
Wellington, C.L.9
Salvesen, G.S.10
Hayden, M.R.11
Bredesen, D.E.12
-
30
-
-
0033605746
-
Cleavage of atrophin-1 at caspase site aspartic acid 109 modulates cytotoxicity
-
Ellerby LM, Andrusiak RL, Wellington CL, Hackam AS, Propp SS, Wood JD, Sharp AH, Margolis RL, Ross CA, Salvesen GS, Hayden MR, Bredesen DE (1999b) Cleavage of atrophin-1 at caspase site aspartic acid 109 modulates cytotoxicity. J Biol Chem 274:8730-8736
-
(1999)
J Biol Chem
, vol.274
, pp. 8730-8736
-
-
Ellerby, L.M.1
Andrusiak, R.L.2
Wellington, C.L.3
Hackam, A.S.4
Propp, S.S.5
Wood, J.D.6
Sharp, A.H.7
Margolis, R.L.8
Ross, C.A.9
Salvesen, G.S.10
Hayden, M.R.11
Bredesen, D.E.12
-
31
-
-
0022497852
-
Genetic control of programmed cell death in the nematode C. elegans
-
Ellis HM, Horvitz HR (1986) Genetic control of programmed cell death in the nematode C. elegans. Cell 44:817-829
-
(1986)
Cell
, vol.44
, pp. 817-829
-
-
Ellis, H.M.1
Horvitz, H.R.2
-
33
-
-
0345436080
-
High level expression of expanded full-length ataxin-3 in vitro causes cell death and formation of intranuclear inclusions in neuronal cells
-
Evert BO, Wüllner U, Schulz JB, Weller M, Groscurth P, Trottier Y, Brice A, Klockgether T (1999) High level expression of expanded full-length ataxin-3 in vitro causes cell death and formation of intranuclear inclusions in neuronal cells. Hum Mol Genet 8:1169-1176
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1169-1176
-
-
Evert, B.O.1
Wüllner, U.2
Schulz, J.B.3
Weller, M.4
Groscurth, P.5
Trottier, Y.6
Brice, A.7
Klockgether, T.8
-
34
-
-
0023025386
-
Localization of the gene for X-linked spinal muscular atrophy
-
Fischbeck KH, Ionasescu V, Ritter AW, Ionasescu R, Davies K, Ball S, Bosch P, Burns T, Hausmanowa-Petrusewicz I, Borkowska J, Ringel SP, Stern LZ (1986) Localization of the gene for X-linked spinal muscular atrophy. Neurology 36: 1595-1598
-
(1986)
Neurology
, vol.36
, pp. 1595-1598
-
-
Fischbeck, K.H.1
Ionasescu, V.2
Ritter, A.W.3
Ionasescu, R.4
Davies, K.5
Ball, S.6
Bosch, P.7
Burns, T.8
Hausmanowa-Petrusewicz, I.9
Borkowska, J.10
Ringel, S.P.11
Stern, L.Z.12
-
35
-
-
9044229711
-
Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript
-
Goldberg YP, Kalchman MA, Metzler M, Nasir J, Zeisler J, Graham R, Koide HB, O'Kusky J, Sharp AH, Ross CA, Jirik F, Hayden MR (1996a) Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript. Hum Mol Genet 5:177-185
-
(1996)
Hum Mol Genet
, vol.5
, pp. 177-185
-
-
Goldberg, Y.P.1
Kalchman, M.A.2
Metzler, M.3
Nasir, J.4
Zeisler, J.5
Graham, R.6
Koide, H.B.7
O'Kusky, J.8
Sharp, A.H.9
Ross, C.A.10
Jirik, F.11
Hayden, M.R.12
-
36
-
-
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, Graham RK, Bromm M, Kazemi-Esfarjani P, Thornberry NA, Vaillancourt JP, Hayden MR (1996b) 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
Graham, R.K.6
Bromm, M.7
Kazemi-Esfarjani, P.8
Thornberry, N.A.9
Vaillancourt, J.P.10
Hayden, M.R.11
-
37
-
-
0021028244
-
A polymorphic DNA marker genetically linked to Huntington's disease
-
Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins PC, Ottina K, Wallace MR, Sakaguchi AY, Young AB, Shoulson I, Bonilla E, Martin JB (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
Tanzi, R.E.6
Watkins, P.C.7
Ottina, K.8
Wallace, M.R.9
Sakaguchi, A.Y.10
Young, A.B.11
Shoulson, I.12
Bonilla, E.13
Martin, J.B.14
-
38
-
-
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
-
39
-
-
0032946228
-
In vitro evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease
-
Hackam AS, Singaraja R, Zhang T, Gan L, Hayden MR (1999) In vitro evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease. Hum Mol Genet 8:25-33
-
(1999)
Hum Mol Genet
, vol.8
, pp. 25-33
-
-
Hackam, A.S.1
Singaraja, R.2
Zhang, T.3
Gan, L.4
Hayden, M.R.5
-
40
-
-
0027342814
-
Clinical features and classification of inherited ataxias
-
Harding AE (1993) Clinical features and classification of inherited ataxias. Adv Neurol 61:1-14
-
(1993)
Adv Neurol
, vol.61
, pp. 1-14
-
-
Harding, A.E.1
-
41
-
-
0020457362
-
X-linked recessive bulbospinal neuropathy: A report often cases
-
Harding AE, Thomas PK, Baraitser M, Bradbury PG, Morgan-Hughes JA, Ponsford JR (1982) X-linked recessive bulbospinal neuropathy: a report often cases. J Neurol Neurosurg Psychiatry 45:1012-1019
-
(1982)
J Neurol Neurosurg Psychiatry
, vol.45
, pp. 1012-1019
-
-
Harding, A.E.1
Thomas, P.K.2
Baraitser, M.3
Bradbury, P.G.4
Morgan-Hughes, J.A.5
Ponsford, J.R.6
-
42
-
-
0029054377
-
snRNP Sm proteins share two evolutionarily conserved sequence motifs which are involved in Sm protein-protein interactions
-
Hermann H, Fabrizio P, Raker VA, Foulaki K, Hornig H, Brahms H, Luhrmann R (1995) snRNP Sm proteins share two evolutionarily conserved sequence motifs which are involved in Sm protein-protein interactions. EMBO J 14:2076-2088
-
(1995)
EMBO J
, vol.14
, pp. 2076-2088
-
-
Hermann, H.1
Fabrizio, P.2
Raker, V.A.3
Foulaki, K.4
Hornig, H.5
Brahms, H.6
Luhrmann, R.7
-
43
-
-
10544222019
-
Human huntingtin derived from YAC transgenes compensates for loss of murine huntingtin by rescue of the embryonic lethal phenotype
-
Hodgson JG, Smith DJ, McCutcheon K, Koide HB, Nishiyama K, Dinulos MB, Stevens ME, Bissada N, Nasir J, Kanazawa I, Disteche CM, Rubin EM, Hayden MR (1996) Human huntingtin derived from YAC transgenes compensates for loss of murine huntingtin by rescue of the embryonic lethal phenotype. Hum Mol Genet 5:1875-1885
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1875-1885
-
-
Hodgson, J.G.1
Smith, D.J.2
McCutcheon, K.3
Koide, H.B.4
Nishiyama, K.5
Dinulos, M.B.6
Stevens, M.E.7
Bissada, N.8
Nasir, J.9
Kanazawa, I.10
Disteche, C.M.11
Rubin, E.M.12
Hayden, M.R.13
-
44
-
-
0029117960
-
Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1
-
Holmberg M, Johansson J, Forsgren L, Heijbel J, Sandgren O, Holmgren G (1995) Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1. Hum Mol Genet 4:1441-1445
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1441-1445
-
-
Holmberg, M.1
Johansson, J.2
Forsgren, L.3
Heijbel, J.4
Sandgren, O.5
Holmgren, G.6
-
45
-
-
7144229376
-
Spinocerebellar ataxia type 7 (SCA7): A neurodegenerative disorder with neuronal intranuclear inclusions
-
Holmberg L, Duyckaerts C, Dürr A, Cancel G, Gourfinkel-An I, Damier P, Faucheux B, Trottier Y, Hirsch EC, Agid Y, Brice A (1998) Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions. Hum Mol Genet 7:913-918
-
(1998)
Hum Mol Genet
, vol.7
, pp. 913-918
-
-
Holmberg, L.1
Duyckaerts, C.2
Dürr, A.3
Cancel, G.4
Gourfinkel-An, I.5
Damier, P.6
Faucheux, B.7
Trottier, Y.8
Hirsch, E.C.9
Agid, Y.10
Brice, A.11
-
46
-
-
0032727249
-
Expansion of a novel CAG trinucleotide repeat in the 5-prime region of PPP2R2B is associated with SCA12
-
Holmes SE, O'Hearn EE, McInnis MG, Gorelick-Feldman DA, Kleiderlein JJ, Callahan C, Kwak NG, Ingersoll-Ashworth RG, Sherr M, Sumner AJ, Sharp AH, Ananth U, Seltzer WK, Boss MA, Vieria-Saecker AM, Epplen JT, Riess O, Ross CA, Margolis RL (1999) Expansion of a novel CAG trinucleotide repeat in the 5-prime region of PPP2R2B is associated with SCA12. Nat Genet 23:391-392
-
(1999)
Nat Genet
, vol.23
, pp. 391-392
-
-
Holmes, S.E.1
O'Hearn, E.E.2
McInnis, M.G.3
Gorelick-Feldman, D.A.4
Kleiderlein, J.J.5
Callahan, C.6
Kwak, N.G.7
Ingersoll-Ashworth, R.G.8
Sherr, M.9
Sumner, A.J.10
Sharp, A.H.11
Ananth, U.12
Seltzer, W.K.13
Boss, M.A.14
Vieria-Saecker, A.M.15
Epplen, J.T.16
Riess, O.17
Ross, C.A.18
Margolis, R.L.19
-
47
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
Huntington's Disease Collaborative Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72:971-983
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
-
48
-
-
0033044001
-
Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2
-
Huynh DP, Del Bigio MR, Ho DH, Pulst SM (1999) Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2. Ann Neurol 45:232-241
-
(1999)
Ann Neurol
, vol.45
, pp. 232-241
-
-
Huynh, D.P.1
Del Bigio, M.R.2
Ho, D.H.3
Pulst, S.M.4
-
49
-
-
17344362229
-
Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch
-
Igarashi S, Koide R, Shimohata T, Yamada M, Hayashi Y, Takano H, Date H, Oyake M, Sato T, Sato A, Egawa S, Ikeuchi T, Tanaka H, Nakano R, Tanaka K, Hozumi I, Inuzuka T, Takahashi H, Tsuji S (1998) Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch. Nat Genet 18:111-117
-
(1998)
Nat Genet
, vol.18
, pp. 111-117
-
-
Igarashi, S.1
Koide, R.2
Shimohata, T.3
Yamada, M.4
Hayashi, Y.5
Takano, H.6
Date, H.7
Oyake, M.8
Sato, T.9
Sato, A.10
Egawa, S.11
Ikeuchi, T.12
Tanaka, R.13
Nakano, R.14
Tanaka, K.15
Hozumi, I.16
Inuzuka, T.17
Takahashi, H.18
Tsuji, S.19
-
50
-
-
0030058208
-
Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo
-
Ikeda H, Yamaguchi M, Sugai S, Aze Y, Narumiya S, Kakizuka A (1996) Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nat Genet 13:196-202
-
(1996)
Nat Genet
, vol.13
, pp. 196-202
-
-
Ikeda, H.1
Yamaguchi, M.2
Sugai, S.3
Aze, Y.4
Narumiya, S.5
Kakizuka, A.6
-
51
-
-
0030294345
-
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
-
Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, Weber C, Mandel JL, Cancel G, Abbas N, Durr A, Didierjean O, Stevanin G, Agid Y, Brice A (1996) Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 14:285-291
-
(1996)
Nat Genet
, vol.14
, pp. 285-291
-
-
Imbert, G.1
Saudou, F.2
Yvert, G.3
Devys, D.4
Trottier, Y.5
Garnier, J.M.6
Weber, C.7
Mandel, J.L.8
Cancel, G.9
Abbas, N.10
Durr, A.11
Didierjean, O.12
Stevanin, G.13
Agid, Y.14
Brice, A.15
-
52
-
-
16944366032
-
Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1
-
Ishikawa K, Tanaka H, Saito M, Ohkoshi N, Fujita T, Yoshizawa K, Ikeuchi T, Watanabe M, Hayashi A, Takiyama Y, Nishizawa M, Nakano I, Matsubayashi K, Miwa M, Shoji S, Kanazawa I, Tsuji S, Mizusawa H (1997) Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1. Am J Hum Genet 61:336-346
-
(1997)
Am J Hum Genet
, vol.61
, pp. 336-346
-
-
Ishikawa, K.1
Tanaka, H.2
Saito, M.3
Ohkoshi, N.4
Fujita, T.5
Yoshizawa, K.6
Ikeuchi, T.7
Watanabe, M.8
Hayashi, A.9
Takiyama, Y.10
Nishizawa, M.11
Nakano, I.12
Matsubayashi, K.13
Miwa, M.14
Shoji, S.15
Kanazawa, I.16
Tsuji, S.17
Mizusawa, H.18
-
53
-
-
0032769095
-
Abundant expression and cytoplasmic aggregations of α1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6
-
Ishikawa K, Fujigasaki H, Saegusa H, Ohwada K, Fujita T, Iwamoto H, Komatsuzaki Y, Toru S, Toriyama H, Watanabe M, Ohkoshi N, Shoji S, Kanazawa I, Tsutomu T, Mizusawa H (1999) Abundant expression and cytoplasmic aggregations of α1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6. Hum Mol Genet 8:1185-1193
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1185-1193
-
-
Ishikawa, K.1
Fujigasaki, H.2
Saegusa, H.3
Ohwada, K.4
Fujita, T.5
Iwamoto, H.6
Komatsuzaki, Y.7
Toru, S.8
Toriyama, H.9
Watanabe, M.10
Ohkoshi, N.11
Shoji, S.12
Kanazawa, I.13
Tsutomu, T.14
Mizusawa, H.15
-
54
-
-
0031963416
-
Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: Effect of CAG repeat length on the clinical manifestation
-
Johansson J, Forsgren L, Sandgren O, Brice A, Holmgren G, Holmberg M (1998) Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation. Hum Mol Genet 7: 171-176
-
(1998)
Hum Mol Genet
, vol.7
, pp. 171-176
-
-
Johansson, J.1
Forsgren, L.2
Sandgren, O.3
Brice, A.4
Holmgren, G.5
Holmberg, M.6
-
55
-
-
0029856046
-
Peptides containing glutamine repeats as substrates for transglutaminase-catalyzed cross-linking: Relevance to diseases of the nervous system
-
Kahlem P, Terre C, Green H, Dijan P (1996) Peptides containing glutamine repeats as substrates for transglutaminase-catalyzed cross-linking: relevance to diseases of the nervous system. Proc Natl Acad Sci U S A 93:14580-14585
-
(1996)
Proc Natl Acad Sci U S A
, vol.93
, pp. 14580-14585
-
-
Kahlem, P.1
Terre, C.2
Green, H.3
Dijan, P.4
-
56
-
-
9444239187
-
Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme
-
Kalchman MA, Graham RK, Xia G, Koide HB, Hodgson JG, Graham KC, Goldberg YP, Gietz RD, Pickart CM, Hayden MR (1996) Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme. J Biol Chem 271:19385-19394
-
(1996)
J Biol Chem
, vol.271
, pp. 19385-19394
-
-
Kalchman, M.A.1
Graham, R.K.2
Xia, G.3
Koide, H.B.4
Hodgson, J.G.5
Goldberg, Y.P.6
Gietz, R.D.7
Pickart, C.M.8
Hayden, M.R.9
-
57
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama H, Nakamura S, Nishimura M, Akiguchi I, Kimura J, Narumiya S, Kakizuka A (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 8:221-227
-
(1994)
Nat Genet
, vol.8
, pp. 221-227
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
Aizawa, M.4
Inoue, M.5
Katayama, H.6
Nakamura, S.7
Nishimura, M.8
Akiguchi, I.9
Kimura, J.10
Narumiya, S.11
Kakizuka, A.12
-
58
-
-
0032858212
-
Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7
-
Kaytor MD, Duvick LA, Skinner PJ, Koob MD, Ranum LPW, Orr HT (1999) Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7. Hum Mol Genet 8:1657-1664
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1657-1664
-
-
Kaytor, M.D.1
Duvick, L.A.2
Skinner, P.J.3
Koob, M.D.4
Ranum, L.P.W.5
Orr, H.T.6
-
59
-
-
0014310582
-
Progressive proximal spinal and bulbar muscular atrophy of late onset: A sex-linked recessive trait
-
Kennedy WR, Alter M, Sung JH (1968) Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex-linked recessive trait. Neurology 18:671-680
-
(1968)
Neurology
, vol.18
, pp. 671-680
-
-
Kennedy, W.R.1
Alter, M.2
Sung, J.H.3
-
60
-
-
0015383455
-
Apoptosis: A basic biological phenomenon with wide-ranging implications in tissue kinetics
-
Kerr JFR, Wyllie AH, Currie AR (1972) Apoptosis: a basic biological phenomenon with wide-ranging implications in tissue kinetics. Br J Cancer 26:239-257
-
(1972)
Br J Cancer
, vol.26
, pp. 239-257
-
-
Kerr, J.F.R.1
Wyllie, A.H.2
Currie, A.R.3
-
61
-
-
0033081766
-
Mutant huntingtin expression in clonal striatal cells: Dissociation of inclusion formation and neuronal survival by caspase inhibition
-
Kirn M, Lee HS, LaForet G, McIntyre C, Martin EJ, Chang P, Kim TW, Williams M, Reddy PH, Tagle D, Boyce FM, Won L, Heller A, Aronin N, DiFiglia M (1999) Mutant huntingtin expression in clonal striatal cells: dissociation of inclusion formation and neuronal survival by caspase inhibition. J Neurosci 19:964-973
-
(1999)
J Neurosci
, vol.19
, pp. 964-973
-
-
Kirn, M.1
Lee, H.S.2
LaForet, G.3
McIntyre, C.4
Martin, E.J.5
Chang, P.6
Kim, T.W.7
Williams, M.8
Reddy, P.H.9
Tagle, D.10
Boyce, F.M.11
Won, L.12
Heller, A.13
Aronin, N.14
DiFiglia, M.15
-
62
-
-
0032475941
-
Ataxin-1 localization and aggregation: Role in polyglutamine-induced disease in SCA1 transgenic mice
-
Klement IA, Skinner PJ, Kaytor MD, Yi H, Hersch SM, Clark HB, Zoghbi HY, Orr HT (1998) Ataxin-1 localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell 95:41-53
-
(1998)
Cell
, vol.95
, pp. 41-53
-
-
Klement, I.A.1
Skinner, P.J.2
Kaytor, M.D.3
Yi, H.4
Hersch, S.M.5
Clark, H.B.6
Zoghbi, H.Y.7
Orr, H.T.8
-
63
-
-
0031928862
-
Genes involved in hereditary ataxias
-
Klockgether T, Evert B (1998) Genes involved in hereditary ataxias. Trends Neurosci 21:413-418
-
(1998)
Trends Neurosci
, vol.21
, pp. 413-418
-
-
Klockgether, T.1
Evert, B.2
-
64
-
-
0034708793
-
Chaperones Hsp70 and Hsp40 suppress aggregate formation and apoptosis in cultured neuronal cells expressing truncated androgen receptor protein with expanded polyglutamine tract
-
Kobayashi Y, Kume A, Li M, Doyu M, Hata M, Ohtsuka K, Sobue G (2000) Chaperones Hsp70 and Hsp40 suppress aggregate formation and apoptosis in cultured neuronal cells expressing truncated androgen receptor protein with expanded polyglutamine tract. J Biol Chem 275:8772-8778
-
(2000)
J Biol Chem
, vol.275
, pp. 8772-8778
-
-
Kobayashi, Y.1
Kume, A.2
Li, M.3
Doyu, M.4
Hata, M.5
Ohtsuka, K.6
Sobue, G.7
-
65
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
-
Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, Kondo R, Ishikawa A, Hayashi T, Saito M, Tomoda A, Miike T, Naito H, Ikuta F, Tsuji S (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 6:9-13
-
(1994)
Nat Genet
, vol.6
, pp. 9-13
-
-
Koide, R.1
Ikeuchi, T.2
Onodera, O.3
Tanaka, H.4
Igarashi, S.5
Endo, K.6
Tomoda, A.7
Kondo, R.8
Ishikawa, A.9
Hayashi, T.10
Saito, M.11
Tomoda, A.12
Miike, T.13
Naito, H.14
Ikuta, F.15
Tsuji, S.16
-
66
-
-
0032885515
-
A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: A new polyglutamine disease?
-
Koide R, Kobayashi S, Shimohata T, Ikeuchi T, Maruyama M, Saito M, Yamada M, Takahashi H, Tsuji S (1999) A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? Hum Mol Genet 8:2047-2053
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2047-2053
-
-
Koide, R.1
Kobayashi, S.2
Shimohata, T.3
Ikeuchi, T.4
Maruyama, M.5
Saito, M.6
Yamada, M.7
Takahashi, H.8
Tsuji, S.9
-
67
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
LaSpada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 353:77-79
-
(1991)
Nature
, vol.353
, pp. 77-79
-
-
LaSpada, A.R.1
Wilson, E.M.2
Lubahn, D.B.3
Harding, A.E.4
Fischbeck, K.H.5
-
68
-
-
0028803757
-
A huntingtin-associated protein enriched in brain and implications for pathology
-
Li XJ, Li SH, Sharp AH, Nucifora FC Jr, Schilling G, Lanahan A, Worley P, Snyder SH, Ross CA (1995) A huntingtin-associated protein enriched in brain and implications for pathology. Nature 378:398-402
-
(1995)
Nature
, vol.378
, pp. 398-402
-
-
Li, X.J.1
Li, S.H.2
Sharp, A.H.3
Nucifora F.C., Jr.4
Schilling, G.5
Lanahan, A.6
Worley, P.7
Snyder, S.H.8
Ross, C.A.9
-
69
-
-
15144342225
-
Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy
-
Li M, Miwa S, Kobayashi Y, Merry DE, Yamamoto M, Tanaka F, Doyu M, Hashizume Y, Fischbeck KH, Sobue G (1998) Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy. Ann Neurol 44:249-254
-
(1998)
Ann Neurol
, vol.44
, pp. 249-254
-
-
Li, M.1
Miwa, S.2
Kobayashi, Y.3
Merry, D.E.4
Yamamoto, M.5
Tanaka, F.6
Doyu, M.7
Hashizume, Y.8
Fischbeck, K.H.9
Sobue, G.10
-
70
-
-
0033168302
-
Cellular defects and altered gene expression in PC12 cells stably expressing mutant huntingtin
-
Li SH, Li AL, Li XJ (1999a) Cellular defects and altered gene expression in PC12 cells stably expressing mutant huntingtin. J Neurosci 19:5159-5172
-
(1999)
J Neurosci
, vol.19
, pp. 5159-5172
-
-
Li, S.H.1
Li, A.L.2
Li, X.J.3
-
71
-
-
0032811511
-
Ultrastructural localization and progressive formation of neuropil aggregates in Huntington's disease transgenic mice
-
Li H, Li SH, Cheng AL, Mangiarini L, Bates GP, Li XJ (1999b) Ultrastructural localization and progressive formation of neuropil aggregates in Huntington's disease transgenic mice. Hum Mol Genet 8:1227-1236
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1227-1236
-
-
Li, H.1
Li, S.H.2
Cheng, A.L.3
Mangiarini, L.4
Bates, G.P.5
Li, X.J.6
-
72
-
-
0001388128
-
Expression of polyglutamine-expanded huntingtin activates the SEK1-JNK pathway and induces apoptosis in a hippocampal cell line
-
Liu YF (1998) Expression of polyglutamine-expanded huntingtin activates the SEK1-JNK pathway and induces apoptosis in a hippocampal cell line. J Biol Chem 273:28873-28877
-
(1998)
J Biol Chem
, vol.273
, pp. 28873-28877
-
-
Liu, Y.F.1
-
73
-
-
0031680014
-
A cellular model that recapitulates major pathogenic steps of Huntington's disease
-
Lunkes A, Mandel JL (1998) A cellular model that recapitulates major pathogenic steps of Huntington's disease. Hum Mol Genet 7:1355-1361
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1355-1361
-
-
Lunkes, A.1
Mandel, J.L.2
-
74
-
-
16044373842
-
Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice
-
Mangiarini L, Sathasivam K, Seller M, Cozens B, Harper A, Hetherington C, Lawton M, Trottier Y, Lehrach H, Davies SW, Bates GP (1996) Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87:493-506
-
(1996)
Cell
, vol.87
, pp. 493-506
-
-
Mangiarini, L.1
Sathasivam, K.2
Seller, M.3
Cozens, B.4
Harper, A.5
Hetherington, C.6
Lawton, M.7
Trottier, Y.8
Lehrach, H.9
Davies, S.W.10
Bates, G.P.11
-
75
-
-
0029125701
-
Protease activation during apoptosis: Death by a thousand cuts?
-
Martin SJ, Green DR (1995) Protease activation during apoptosis: death by a thousand cuts? Cell 82:349-352
-
(1995)
Cell
, vol.82
, pp. 349-352
-
-
Martin, S.J.1
Green, D.R.2
-
76
-
-
0028067442
-
On an autsomal dominant form of retinol-cerebellar degeneration: An autopsy study of five patients in one family
-
Martin JJ, Van Regemorter N, Krols L, Brucher JM, de Barcy T, Szliwowski H, Evrard P, Ceuterick C, Tassignon MJ, Smet-Dieleman H, Hayez-Delatte F, Willems PJ, Van Broeckhoven C (1994) On an autsomal dominant form of retinol-cerebellar degeneration: an autopsy study of five patients in one family. Acta Neuropathol 88:277-286
-
(1994)
Acta Neuropathol
, vol.88
, pp. 277-286
-
-
Martin, J.J.1
Van Regemorter, N.2
Krols, L.3
Brucher, J.M.4
De Barcy, T.5
Szliwowski, H.6
Evrard, P.7
Ceuterick, C.8
Tassignon, M.J.9
Smet-Dieleman, H.10
Hayez-Delatte, F.11
Willems, P.J.12
Van Broeckhoven, C.13
-
77
-
-
17344363559
-
Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates
-
Martindale D, Hackam A, Wieczorek A, Ellerby L, Wellington C, McCutcheon K, Singaraja R, Kazemi-Esfarjani P, Devon R, Kim SU, Bredesen DE, Tufaro F, Hayden MR (1998) Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates. Nat Genet 18: 150-154
-
(1998)
Nat Genet
, vol.18
, pp. 150-154
-
-
Martindale, D.1
Hackam, A.2
Wieczorek, A.3
Ellerby, L.4
Wellington, C.5
McCutcheon, K.6
Singaraja, R.7
Kazemi-Esfarjani, P.8
Devon, R.9
Kim, S.U.10
Bredesen, D.E.11
Tufaro, F.12
Hayden, M.R.13
-
78
-
-
0030716768
-
The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1
-
Matilla A, Koshy BT, Cummings CJ, Isobe T, Orr HT, Zoghbi HY (1997) The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1. Nature 389:974-978
-
(1997)
Nature
, vol.389
, pp. 974-978
-
-
Matilla, A.1
Koshy, B.T.2
Cummings, C.J.3
Isobe, T.4
Orr, H.T.5
Zoghbi, H.Y.6
-
79
-
-
0032528167
-
Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation
-
Matilla A, Roberson ED, Banfi S, Morales J, Armstrong DL, Burright EN, Orr HT, Sweatt JD, Zoghbi HY, Matzuk MM (1998) Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation. J Neurosci 18: 5508-5516
-
(1998)
J Neurosci
, vol.18
, pp. 5508-5516
-
-
Matilla, A.1
Roberson, E.D.2
Banfi, S.3
Morales, J.4
Armstrong, D.L.5
Burright, E.N.6
Orr, H.T.7
Sweatt, J.D.8
Zoghbi, H.Y.9
Matzuk, M.M.10
-
80
-
-
0027179523
-
Identification of androgen receptor in the rat spinal motoneurons. Immunohistochemical and immunoblotting analyses with monoclonal antibody
-
Matsuura T, Ogata A, Demura T, Moriwaka F, Tashiro K, Koyanagi T, Nagashima K (1993) Identification of androgen receptor in the rat spinal motoneurons. Immunohistochemical and immunoblotting analyses with monoclonal antibody. Neurosci Lett 158:5-8
-
(1993)
Neurosci Lett
, vol.158
, pp. 5-8
-
-
Matsuura, T.1
Ogata, A.2
Demura, T.3
Moriwaka, F.4
Tashiro, K.5
Koyanagi, T.6
Nagashima, K.7
-
81
-
-
0027450386
-
The 55 kd regulatory subunit of Drosophila protein phosphatase 2A is required for anaphase
-
Mayer-Jaekel RE, Ohkura H, Gomes R, Sunkel CE, Baumgartner S, Hemmings BA, Glover DM (1993) The 55 kd regulatory subunit of Drosophila protein phosphatase 2A is required for anaphase. Cell 72:621-633
-
(1993)
Cell
, vol.72
, pp. 621-633
-
-
Mayer-Jaekel, R.E.1
Ohkura, H.2
Gomes, R.3
Sunkel, C.E.4
Baumgartner, S.5
Hemmings, B.A.6
Glover, D.M.7
-
82
-
-
0031037856
-
The C-terminal domain of RNA polymerase II couples mRNA processing to transcription
-
McCracken S, Fong N, Yankulov K, Ballantyne S, Pan G, Greenblatt J, Patterson SD, Wickens M, Bentley DL (1997) The C-terminal domain of RNA polymerase II couples mRNA processing to transcription. Nature 385:357-361
-
(1997)
Nature
, vol.385
, pp. 357-361
-
-
McCracken, S.1
Fong, N.2
Yankulov, K.3
Ballantyne, S.4
Pan, G.5
Greenblatt, J.6
Patterson, S.D.7
Wickens, M.8
Bentley, D.L.9
-
83
-
-
0031948607
-
Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy
-
Merry DE, Kobayashi Y, Bailey CK, Taye AA, Fischbeck KH (1998) Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy. Hum Mol Genet 7:693-701
-
(1998)
Hum Mol Genet
, vol.7
, pp. 693-701
-
-
Merry, D.E.1
Kobayashi, Y.2
Bailey, C.K.3
Taye, A.A.4
Fischbeck, K.H.5
-
84
-
-
0027366138
-
Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy
-
Mhatre AN, Trifiro MA, Kaufman M, Kazemi-Esfarjani P, Figlewicz D, Rouleau G, Pinsky L (1993) Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy. Nat Genet 5:184-188
-
(1993)
Nat Genet
, vol.5
, pp. 184-188
-
-
Mhatre, A.N.1
Trifiro, M.A.2
Kaufman, M.3
Kazemi-Esfarjani, P.4
Figlewicz, D.5
Rouleau, G.6
Pinsky, L.7
-
85
-
-
0030670816
-
Dentatorubral pallidoluysian atrophy (DRPLA) protein is cleaved by caspase-3 during apoptosis
-
Miyashita T, Okamura-Oho Y, Mito Y, Nagafuchi S, Yamada M (1997) Dentatorubral pallidoluysian atrophy (DRPLA) protein is cleaved by caspase-3 during apoptosis. J Biol Chem 272: 29238-29242
-
(1997)
J Biol Chem
, vol.272
, pp. 29238-29242
-
-
Miyashita, T.1
Okamura-Oho, Y.2
Mito, Y.3
Nagafuchi, S.4
Yamada, M.5
-
86
-
-
0028335386
-
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG tri-nucleotide on chromosome 12p
-
Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M, Takeda T, Tadokoro K, Kondo I, Murayama N, Tanaka Y, Kikushima H, Umino K, Kurosawa H, Furukawa T, Nihei K, Inoue T, Sano A, Komure O, Takahashi M, Yoshizawa T, Kanazawa I, Yamada M (1994a) Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG tri-nucleotide on chromosome 12p. Nat Genet 6:14-18
-
(1994)
Nat Genet
, vol.6
, pp. 14-18
-
-
Nagafuchi, S.1
Yanagisawa, H.2
Sato, K.3
Shirayama, T.4
Ohsaki, E.5
Bundo, M.6
Takeda, T.7
Tadokoro, K.8
Kondo, I.9
Murayama, N.10
Tanaka, Y.11
Kikushima, H.12
Umino, K.13
Kurosawa, H.14
Furukawa, T.15
Nihei, K.16
Inoue, T.17
Sano, A.18
Komure, O.19
Takahashi, M.20
Yoshizawa, T.21
Kanazawa, I.22
Yamada, M.23
more..
-
87
-
-
0028060244
-
Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA)
-
Nagafuchi S, Yanagisawa H, Ohsaki E, Shirayama T, Tadokoro K, Inoue T, Yamada M (1994b) Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA). Nat Genet 8:177-182
-
(1994)
Nat Genet
, vol.8
, pp. 177-182
-
-
Nagafuchi, S.1
Yanagisawa, H.2
Ohsaki, E.3
Shirayama, T.4
Tadokoro, K.5
Inoue, T.6
Yamada, M.7
-
88
-
-
0023791805
-
Familial bulbo-spinal muscular atrophy associated with testicular atrophy and sensory neuropathy (Kennedy-Alter-Sung syndrome). Autopsy case report of two brothers
-
Nagashima T, Seko K, Hirose K, Mannen T, Yoshimura S, Arima R, Nagashima K, Morimatsu Y (1988) Familial bulbo-spinal muscular atrophy associated with testicular atrophy and sensory neuropathy (Kennedy-Alter-Sung syndrome). Autopsy case report of two brothers. J Neurol Sci 87:141-152
-
(1988)
J Neurol Sci
, vol.87
, pp. 141-152
-
-
Nagashima, T.1
Seko, K.2
Hirose, K.3
Mannen, T.4
Yoshimura, S.5
Arima, R.6
Nagashima, K.7
Morimatsu, Y.8
-
89
-
-
0029055717
-
Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes
-
Nasir J, Floresco SB, O'Kusky JR, Diewert VM, Richman JM, Zeisler J, Borowski A, Marth JD, Phillips AG, Hayden MR (1995) Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell 81:811-823
-
(1995)
Cell
, vol.81
, pp. 811-823
-
-
Nasir, J.1
Floresco, S.B.2
O'Kusky, J.R.3
Diewert, V.M.4
Richman, J.M.5
Zeisler, J.6
Borowski, A.7
Marth, J.D.8
Phillips, A.G.9
Hayden, M.R.10
-
90
-
-
0030004280
-
Genetic mapping of the spinocerebellar ataxia type 2 gene on human chromosome 12
-
Nechiporuk A, Lopes-Cendes I, Nechiporuk T, Starkman S, Andermann E, Rouleau GA, Weissenbach JS, Kort E, Pulst SM (1996) Genetic mapping of the spinocerebellar ataxia type 2 gene on human chromosome 12. Neurology 46:1731-1735
-
(1996)
Neurology
, vol.46
, pp. 1731-1735
-
-
Nechiporuk, A.1
Lopes-Cendes, I.2
Nechiporuk, T.3
Starkman, S.4
Andermann, E.5
Rouleau, G.A.6
Weissenbach, J.S.7
Kort, E.8
Pulst, S.M.9
-
91
-
-
0031883849
-
Ataxin-2, global regulators of bacterial gene expression, and spliceosomal snRNP proteins share a conserved domain
-
Neuwald AF, Koonin EV (1998) Ataxin-2, global regulators of bacterial gene expression, and spliceosomal snRNP proteins share a conserved domain. J Mol Med 76:3-5
-
(1998)
J Mol Med
, vol.76
, pp. 3-5
-
-
Neuwald, A.F.1
Koonin, E.V.2
-
92
-
-
0033587128
-
Inhibition of caspase-1 slows disease progression in a mouse model of Huntington's disease
-
Ona VO, Li M, Vonsattel JP, Andrews LJ, Khan SQ, Chung WM, Frey AS, Menon AS, Li XJ, Stieg PE, Yuan J, Penney JB, Young AB, Cha JH, Friedlander RM (1999) Inhibition of caspase-1 slows disease progression in a mouse model of Huntington's disease. Nature 399:263-267
-
(1999)
Nature
, vol.399
, pp. 263-267
-
-
Ona, V.O.1
Li, M.2
Vonsattel, J.P.3
Andrews, L.J.4
Khan, S.Q.5
Chung, W.M.6
Frey, A.S.7
Menon, A.S.8
Li, X.J.9
Stieg, P.E.10
Yuan, J.11
Penney, J.B.12
Young, A.B.13
Cha, J.H.14
Friedlander, R.M.15
-
93
-
-
0031469707
-
Ectopically expressed CAG repeats cause intranuclear inclusions and a progressive late onset neurological phenotype in the mouse
-
Ordway JM, Tallaksen-Greene S, Gutekunst CA, Bernstein EM, Cearley JA, Wiener HW, Dure LS IV, Lindsey R, Hersch SM, Jope RS, Albin RL, Detloff PJ (1997) Ectopically expressed CAG repeats cause intranuclear inclusions and a progressive late onset neurological phenotype in the mouse. Cell 91: 753-763
-
(1997)
Cell
, vol.91
, pp. 753-763
-
-
Ordway, J.M.1
Tallaksen-Greene, S.2
Gutekunst, C.A.3
Bernstein, E.M.4
Cearley, J.A.5
Wiener, H.W.6
Dure L.S. IV7
Lindsey, R.8
Hersch, S.M.9
Jope, R.S.10
Albin, R.L.11
Detloff, P.J.12
-
94
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr HT, Chung MY, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 4:221-226
-
(1993)
Nat Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.Y.2
Banfi, S.3
Kwiatkowski T.J., Jr.4
Servadio, A.5
Beaudet, A.L.6
McCall, A.E.7
Duvick, L.A.8
Ranum, L.P.9
Zoghbi, H.Y.10
-
95
-
-
0030936575
-
Machado-Joseph disease gene product is a cytoplasmic protein widely expressed in brain
-
Paulson HL, Das SS, Crino PB, Perez MK, Patel SC, Gotsdiner D, Fischbeck KH, Pittman RN (1997a) Machado-Joseph disease gene product is a cytoplasmic protein widely expressed in brain. Ann Neurol 41:453-462
-
(1997)
Ann Neurol
, vol.41
, pp. 453-462
-
-
Paulson, H.L.1
Das, S.S.2
Crino, P.B.3
Perez, M.K.4
Patel, S.C.5
Gotsdiner, D.6
Fischbeck, K.H.7
Pittman, R.N.8
-
96
-
-
0030850412
-
Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3
-
Paulson HL, Perez MK, Trottier Y, Trojanowski JQ, Subramony SH, Das SS, Vig P, Mandel JL, Fischbeck KH, Pittman RN (1997b) Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron 19:333-344
-
(1997)
Neuron
, vol.19
, pp. 333-344
-
-
Paulson, H.L.1
Perez, M.K.2
Trottier, Y.3
Trojanowski, J.Q.4
Subramony, S.H.5
Das, S.S.6
Vig, P.7
Mandel, J.L.8
Fischbeck, K.H.9
Pittman, R.N.10
-
97
-
-
0032517816
-
Recruitment and the role of nuclear localization in polyglutamine-mediated aggregation
-
Perez MK, Paulson HL, Pendse SJ, Saionz SJ, Bonini NM, Pittman RN (1998) Recruitment and the role of nuclear localization in polyglutamine-mediated aggregation. J Cell Biol 143:1457-1470
-
(1998)
J Cell Biol
, vol.143
, pp. 1457-1470
-
-
Perez, M.K.1
Paulson, H.L.2
Pendse, S.J.3
Saionz, S.J.4
Bonini, N.M.5
Pittman, R.N.6
-
98
-
-
0028283985
-
Glutamine repeats as polar zippers: Their possible role in inherited neurodegenerative diseases
-
Perutz MF, Johnson T, Suzuki M, Finch JT (1994) Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases. Proc Natl Acad Sci U S A 91:5355-5358
-
(1994)
Proc Natl Acad Sci U S A
, vol.91
, pp. 5355-5358
-
-
Perutz, M.F.1
Johnson, T.2
Suzuki, M.3
Finch, J.T.4
-
99
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, Pearlman S, Starkman S, Orozco-Diaz G, Lunkes A, DeJong P, Rouleau GA, Auburger G, Korenberg JR, Figueroa C, Sahba S (1996) Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 14:269-276
-
(1996)
Nat Genet
, vol.14
, pp. 269-276
-
-
Pulst, S.M.1
Nechiporuk, A.2
Nechiporuk, T.3
Gispert, S.4
Chen, X.N.5
Lopes-Cendes, I.6
Pearlman, S.7
Starkman, S.8
Orozco-Diaz, G.9
Lunkes, A.10
DeJong, P.11
Rouleau, G.A.12
Auburger, G.13
Korenberg, J.R.14
Figueroa, C.15
Sahba, S.16
-
100
-
-
0025887289
-
Localization of the autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) locus, in two kindreds, within an 8-cM subregion of chromosome 6p
-
Ranum LP, Duvick LA, Rich SS, Schul LJ, Litt M, Orr HT (1991) Localization of the autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) locus, in two kindreds, within an 8-cM subregion of chromosome 6p. Am J Hum Genet 49:31-41
-
(1991)
Am J Hum Genet
, vol.49
, pp. 31-41
-
-
Ranum, L.P.1
Duvick, L.A.2
Rich, S.S.3
Schul, L.J.4
Litt, M.5
Orr, H.T.6
-
101
-
-
17344367977
-
Behavioural abnormalities and selective neuronal loss in HD transgenic mice expressing mutated full-length HD cDNA
-
Reddy PH, Williams M, Charles V, Garrett L, Pike-Buchanan L, Whetsell WO Jr, Miller G, Tagle DA (1998) Behavioural abnormalities and selective neuronal loss in HD transgenic mice expressing mutated full-length HD cDNA. Nat Genet 20: 198-202
-
(1998)
Nat Genet
, vol.20
, pp. 198-202
-
-
Reddy, P.H.1
Williams, M.2
Charles, V.3
Garrett, L.4
Pike-Buchanan, L.5
Whetsell W.O., Jr.6
Miller, G.7
Tagle, D.A.8
-
102
-
-
8544235014
-
SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene
-
Riess O, Schols L, Bottger H, Nolte D, Vieira-Saecker AM, Schiniming C, Kreuz F, Macek M Jr, Krebsova A, Macek M Sen, Klockgether T, Zuhlke C, Laccone FA (1997) SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene. Hum Mol Genet 6:1289-1293
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1289-1293
-
-
Riess, O.1
Schols, L.2
Bottger, H.3
Nolte, D.4
Vieira-Saecker, A.M.5
Schiniming, C.6
Kreuz, F.7
Macek M., Jr.8
Krebsova, A.9
Macek, M.10
Klockgether, T.11
Zuhlke, C.12
Laccone, F.A.13
-
103
-
-
0026708036
-
Machado-Joseph disease: An autosomal dominant motor system degeneration
-
Rosenberg RN (1992) Machado-Joseph disease: an autosomal dominant motor system degeneration. Mov Disord 7:193-203
-
(1992)
Mov Disord
, vol.7
, pp. 193-203
-
-
Rosenberg, R.N.1
-
104
-
-
0031446233
-
Intranuclear neuronal inclusions: A common pathogenic mechanism for glutamine mechanism for glutamine-repeat neurodegenerative diseases?
-
Ross AC (1997) Intranuclear neuronal inclusions: a common pathogenic mechanism for glutamine mechanism for glutamine-repeat neurodegenerative diseases? Neuron 19:1147-1150
-
(1997)
Neuron
, vol.19
, pp. 1147-1150
-
-
Ross, A.C.1
-
105
-
-
0032006106
-
Genomic structure of the human gene for spinocerebellar ataxia type 2 (SCA2) on chromosome 12q24.1
-
Sahba S, Nechiporuk A, Figueroa KP, Nechiporuk T, Pulst SM (1998) Genomic structure of the human gene for spinocerebellar ataxia type 2 (SCA2) on chromosome 12q24.1. Genomics 47:359-64
-
(1998)
Genomics
, vol.47
, pp. 359-364
-
-
Sahba, S.1
Nechiporuk, A.2
Figueroa, K.P.3
Nechiporuk, T.4
Pulst, S.M.5
-
106
-
-
0033103523
-
Caspase-8 is required for cell death induced by expanded polyglutamine repeats
-
Sanchez I, Xu CJ, Juo P, Kakizaka A, Blenis J, Yuan J (1999) Caspase-8 is required for cell death induced by expanded polyglutamine repeats. Neuron 22:623-633
-
(1999)
Neuron
, vol.22
, pp. 623-633
-
-
Sanchez, I.1
Xu, C.J.2
Juo, P.3
Kakizaka, A.4
Blenis, J.5
Yuan, J.6
-
107
-
-
0030292368
-
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
-
Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, Wakisaka A, Tashiro K, Ishida Y, Ikeuchi T, Koide R, Saito M, Sato A, Tanaka T, Hanyu S, Takiyama Y, Nishizawa M, Shimizu N, Nomura Y, Segawa M, Iwabuchi K, Eguchi I, Tanaka H, Takahashi H, Tsuji S (1996) Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 14:277-284
-
(1996)
Nat Genet
, vol.14
, pp. 277-284
-
-
Sanpei, K.1
Takano, H.2
Igarashi, S.3
Sato, T.4
Oyake, M.5
Sasaki, H.6
Wakisaka, A.7
Tashiro, K.8
Ishida, Y.9
Ikeuchi, T.10
Koide, R.11
Saito, M.12
Sato, A.13
Tanaka, T.14
Hanyu, S.15
Takiyama, Y.16
Nishizawa, M.17
Shimizu, N.18
Nomura, Y.19
Segawa, M.20
Iwabuchi, K.21
Eguchi, I.22
Tanaka, H.23
Takahashi, H.24
Tsuji, S.25
more..
-
108
-
-
14444273908
-
Regulation of protein phosphatase 2A activity by caspase-3 during apoptosis
-
Santoro MF, Annand RR, Robertson MM, Peng YW, Brady MJ, Mankovich JA, Hackett MC, Ghayur T, Walter G, Wong WW, Giegel DA (1998) Regulation of protein phosphatase 2A activity by caspase-3 during apoptosis. J Biol Chem 273:13119-13128
-
(1998)
J Biol Chem
, vol.273
, pp. 13119-13128
-
-
Santoro, M.F.1
Annand, R.R.2
Robertson, M.M.3
Peng, Y.W.4
Brady, M.J.5
Mankovich, J.A.6
Hackett, M.C.7
Ghayur, T.8
Walter, G.9
Wong, W.W.10
Giegel, D.A.11
-
109
-
-
0033046477
-
Adenovirus-mediated expression of mutant DRPLA proteins with expanded polyglutamine stretches in neuronally differentiated PC12 cells. Preferential intranuclear aggregate formation and apoptosis
-
Sato A, Shimohata T, Koide R, Takano H, Sato T, Oyake M, Igarashi S, Tanaka K, Inuzuka T, Nawa H, Tsuji S (1999) Adenovirus-mediated expression of mutant DRPLA proteins with expanded polyglutamine stretches in neuronally differentiated PC12 cells. Preferential intranuclear aggregate formation and apoptosis. Hum Mol Genet 8:997-1006
-
(1999)
Hum Mol Genet
, vol.8
, pp. 997-1006
-
-
Sato, A.1
Shimohata, T.2
Koide, R.3
Takano, H.4
Sato, T.5
Oyake, M.6
Igarashi, S.7
Tanaka, K.8
Inuzuka, T.9
Nawa, H.10
Tsuji, S.11
-
110
-
-
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
-
111
-
-
18544400323
-
Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo
-
Scherzinger E, Lurz R, Turmaine M, Mangiarini L, Hollenbach B, Hasenbank R, Bates GB, Davies SW, Lehrach H, Wanker EE (1997) Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo. Cell 90: 549-558
-
(1997)
Cell
, vol.90
, pp. 549-558
-
-
Scherzinger, E.1
Lurz, R.2
Turmaine, M.3
Mangiarini, L.4
Hollenbach, B.5
Hasenbank, R.6
Bates, G.B.7
Davies, S.W.8
Lehrach, H.9
Wanker, E.E.10
-
112
-
-
0033054555
-
Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin
-
Schilling G, Becher MW, Sharp AH, Jinnah HA, Duan K, Kotzuk JA, Slunt HH, Ratovitski T, Cooper JK, Jenkins NA, Copeland NG, Price DL, Ross CA, Borchelt DR (1999) Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin. Hum Mol Genet 8:397-407
-
(1999)
Hum Mol Genet
, vol.8
, pp. 397-407
-
-
Schilling, G.1
Becher, M.W.2
Sharp, A.H.3
Jinnah, H.A.4
Duan, K.5
Kotzuk, J.A.6
Slunt, H.H.7
Ratovitski, T.8
Cooper, J.K.9
Jenkins, N.A.10
Copeland, N.G.11
Price, D.L.12
Ross, C.A.13
Borchelt, D.R.14
-
113
-
-
7344234800
-
An isoform of ataxin-3 accumulates in the nucleus of neuronal cells in affected brain regions of SCA3 patients
-
Schmidt T, Landwehrmeyer GB, Schmitt I, Trottier Y, Auburger G, Laccone F, Klockgether T, Völpel M, Epplen JT, Schöls L, Riess O (1998) An isoform of ataxin-3 accumulates in the nucleus of neuronal cells in affected brain regions of SCA3 patients. Brain Pathol 8:669-679
-
(1998)
Brain Pathol
, vol.8
, pp. 669-679
-
-
Schmidt, T.1
Landwehrmeyer, G.B.2
Schmitt, I.3
Trottier, Y.4
Auburger, G.5
Laccone, F.6
Klockgether, T.7
Völpel, M.8
Epplen, J.T.9
Schöls, L.10
Riess, O.11
-
114
-
-
0029014180
-
Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals
-
Servadio A, Koshy B, Armstrong D, Antalffy B, Orr HT, Zoghbi HY (1995) Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nat Genet 10:94-98
-
(1995)
Nat Genet
, vol.10
, pp. 94-98
-
-
Servadio, A.1
Koshy, B.2
Armstrong, D.3
Antalffy, B.4
Orr, H.T.5
Zoghbi, H.Y.6
-
115
-
-
0032186107
-
SH3GL3 associates with the Huntingtin exon 1 protein and promotes the formation of polgln-containing protein aggregates
-
Sittler A, Walter S, Wedemeyer N, Hasenbank R, Scherzinger E, Eickhoff H, Bates GP, Lehrach H, Wanker EE (1998) SH3GL3 associates with the Huntingtin exon 1 protein and promotes the formation of polgln-containing protein aggregates. Mol Cell 2:427-436
-
(1998)
Mol Cell
, vol.2
, pp. 427-436
-
-
Sittler, A.1
Walter, S.2
Wedemeyer, N.3
Hasenbank, R.4
Scherzinger, E.5
Eickhoff, H.6
Bates, G.P.7
Lehrach, H.8
Wanker, E.E.9
-
116
-
-
0030666001
-
Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures
-
Skinner PJ, Koshy BT, Cummings CJ, Klement IA, Helin K, Servadio A, Zoghbi HY, Orr HT (1997) Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature 389:971-974
-
(1997)
Nature
, vol.389
, pp. 971-974
-
-
Skinner, P.J.1
Koshy, B.T.2
Cummings, C.J.3
Klement, I.A.4
Helin, K.5
Servadio, A.6
Zoghbi, H.Y.7
Orr, H.T.8
-
117
-
-
0033520355
-
Molecular interactions among protein phosphatase 2A, tau, and microtubules
-
Sontag E, Nunbhakdi-Craig V, Lee G, Brandt R, Kamibayashi C, Kuret J, White CL III, Mumby MC, Bloom GS (1999) Molecular interactions among protein phosphatase 2A, tau, and microtubules. J Biol Chem 274:25490-25498
-
(1999)
J Biol Chem
, vol.274
, pp. 25490-25498
-
-
Sontag, E.1
Nunbhakdi-Craig, V.2
Lee, G.3
Brandt, R.4
Kamibayashi, C.5
Kuret, J.6
White C.L. III7
Mumby, M.C.8
Bloom, G.S.9
-
118
-
-
0032945938
-
Polyglutamine-expanded androgen receptors form aggregates that sequester heat shock proteins, proteasome components and SRC-1, and are suppressed by the HDJ-2 chaperone
-
Stenoien DL, Cummings CJ, Adams HP, Mancini MG, Patel K, DeMartino GN, Marcelli M, Weigel NL, Mancini MA (1999) Polyglutamine-expanded androgen receptors form aggregates that sequester heat shock proteins, proteasome components and SRC-1, and are suppressed by the HDJ-2 chaperone. Hum Mol Genet 8:731-741
-
(1999)
Hum Mol Genet
, vol.8
, pp. 731-741
-
-
Stenoien, D.L.1
Cummings, C.J.2
Adams, H.P.3
Mancini, M.G.4
Patel, K.5
DeMartino, G.N.6
Marcelli, M.7
Weigel, N.L.8
Mancini, M.A.9
-
119
-
-
0029882009
-
Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, Machado-Joseph disease, or dentato-rubro-pallido-luysian atrophy locus
-
Subramony SH, Fratkin JD, Manyam BV, Currier RD (1996) Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, Machado-Joseph disease, or dentato-rubro-pallido-luysian atrophy locus. Mov Disord 11:174-180
-
(1996)
Mov Disord
, vol.11
, pp. 174-180
-
-
Subramony, S.H.1
Fratkin, J.D.2
Manyam, B.V.3
Currier, R.D.4
-
120
-
-
0027279503
-
The gene for Machado-Joseph disease maps to human chromosome 14q
-
Takiyama Y, Nishizawa M, Tanaka H, Kawashima S, Sakamoto H, Karube Y, Shiniazaki H, Soutome M, Endo K, Ohta S, Kagawa Y, Kanazawa I, Mizuno Y, Yoshida M, Yuasa T, Horikawa Y, Oyanagi K, Nagai H, Kondo T, Inuzuka T, Onodera O, Tsuji S (1993) The gene for Machado-Joseph disease maps to human chromosome 14q. Nat Genet 4:300-304
-
(1993)
Nat Genet
, vol.4
, pp. 300-304
-
-
Takiyama, Y.1
Nishizawa, M.2
Tanaka, H.3
Kawashima, S.4
Sakamoto, H.5
Karube, Y.6
Shiniazaki, H.7
Soutome, M.8
Endo, K.9
Ohta, S.10
Kagawa, Y.11
Kanazawa, I.12
Mizuno, Y.13
Yoshida, M.14
Yuasa, T.15
Horikawa, Y.16
Oyanagi, K.17
Nagai, H.18
Kondo, T.19
Inuzuka, T.20
Onodera, O.21
Tsuji, S.22
more..
-
121
-
-
0028141691
-
A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q
-
Takiyama Y, Oyanagi S, Kawashima S, Sakamoto H, Saito K, Yoshida M, Tsuji S, Mizuno Y, Nishizawa M (1994) A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q. Neurology 44:1302-1308
-
(1994)
Neurology
, vol.44
, pp. 1302-1308
-
-
Takiyama, Y.1
Oyanagi, S.2
Kawashima, S.3
Sakamoto, H.4
Saito, K.5
Yoshida, M.6
Tsuji, S.7
Mizuno, Y.8
Nishizawa, M.9
-
122
-
-
0028943734
-
Apoptosis in the pathogenesis and treatment of disease
-
Thompson C (1995) Apoptosis in the pathogenesis and treatment of disease. Science 267:1456-1462
-
(1995)
Science
, vol.267
, pp. 1456-1462
-
-
Thompson, C.1
-
123
-
-
0030849093
-
A combinatorial approach defines specificities of members of the caspase family and granzyme B
-
Thornberry NA, Rano TA, Peterson EP, Rasper DM, Timkey T, Garcia-Calvo M, Houtzager VM, Nordstrom PA, Ray S, Vaillancourt JP, Capman KT, Nicholson DW (1997) A combinatorial approach defines specificities of members of the caspase family and granzyme B. J Biol Chem 272:17907-17911
-
(1997)
J Biol Chem
, vol.272
, pp. 17907-17911
-
-
Thornberry, N.A.1
Rano, T.A.2
Peterson, E.P.3
Rasper, D.M.4
Timkey, T.5
Garcia-Calvo, M.6
Houtzager, V.M.7
Nordstrom, P.A.8
Ray, S.9
Vaillancourt, J.P.10
Capman, K.T.11
Nicholson, D.W.12
-
125
-
-
0028972448
-
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
-
Trottier Y, Lutz Y, Stevanin G, Imbert G, Devys D, Cancel G, Saudou F, Weber C, David G, Tora L, Agid Y, Brice A, Mandel JL (1995) Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 378:403-406
-
(1995)
Nature
, vol.378
, pp. 403-406
-
-
Trottier, Y.1
Lutz, Y.2
Stevanin, G.3
Imbert, G.4
Devys, D.5
Cancel, G.6
Saudou, F.7
Weber, C.8
David, G.9
Tora, L.10
Agid, Y.11
Brice, A.12
Mandel, J.L.13
-
126
-
-
0032425541
-
Heterogenous intracellular localization and expression of ataxin-3
-
Trottier Y, Cancel G, An-Gourfinkel I, Lutz Y, Weber C, Brice A, Hirsch E, Mandel JL (1998) Heterogenous intracellular localization and expression of ataxin-3. Neurobiol Dis 5:335-347
-
(1998)
Neurobiol Dis
, vol.5
, pp. 335-347
-
-
Trottier, Y.1
Cancel, G.2
An-Gourfinkel, I.3
Lutz, Y.4
Weber, C.5
Brice, A.6
Hirsch, E.7
Mandel, J.L.8
-
127
-
-
0031056478
-
HIP-I: A huntingtin interacting protein isolated by the yeast two-hybrid system
-
Wanker EE, Rovira C, Scherzinger E, Hasenbank R, Walter S, Tait D, Colicelli J, Lehrach H (1997) HIP-I: a huntingtin interacting protein isolated by the yeast two-hybrid system. Hum Mol Genet 6:487-495
-
(1997)
Hum Mol Genet
, vol.6
, pp. 487-495
-
-
Wanker, E.E.1
Rovira, C.2
Scherzinger, E.3
Hasenbank, R.4
Walter, S.5
Tait, D.6
Colicelli, J.7
Lehrach, H.8
-
128
-
-
18544392423
-
Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in drosophila
-
Warrick JM, Paulson HL, Gray-Board GL, Bui QT, Fischbeck KH, Pittman RN, Bonini NM (1998) Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in drosophila. Cell 93:939-949
-
(1998)
Cell
, vol.93
, pp. 939-949
-
-
Warrick, J.M.1
Paulson, H.L.2
Gray-Board, G.L.3
Bui, Q.T.4
Fischbeck, K.H.5
Pittman, R.N.6
Bonini, N.M.7
-
129
-
-
0032502715
-
Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract
-
Wellington CL, Ellerby LM, Hackam AS, Margolis RL, Trifiro MA, Singaraja R, McCutcheon K, Salvesen GS, Propp SS, Bromm M, Rowland KJ, Zhang T, Rasper D, Roy S, Thornberry N, Pinsky L, Kakizuka A, Ross CA, Nicholson DW, Bredesen DE, Hayden MR (1998) Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract. J Biol Chem 273:9158-9167
-
(1998)
J Biol Chem
, vol.273
, pp. 9158-9167
-
-
Wellington, C.L.1
Ellerby, L.M.2
Hackam, A.S.3
Margolis, R.L.4
Trifiro, M.A.5
Singaraja, R.6
McCutcheon, K.7
Salvesen, G.S.8
Propp, S.S.9
Bromm, M.10
Rowland, K.J.11
Zhang, T.12
Rasper, D.13
Roy, S.14
Thornberry, N.15
Pinsky, L.16
Kakizuka, A.17
Ross, C.A.18
Nicholson, D.W.19
Bredesen, D.E.20
Hayden, M.R.21
more..
-
130
-
-
0030613177
-
Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion
-
White JK, Auerbach W, Duyao MP, Vonsattel JP, Gusella JF, Joyner AL, MacDonald ME (1997) Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nat Genet 17:404-410
-
(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
-
132
-
-
0034646426
-
Effects of heat shock, heat shock protein 40 (HDJ-2), and proteasome inhibition on protein aggregation in cellular models of Huntington's disease
-
Wyttenbach A, Carmichael J, Swartz J, Furlong RA, Narain Y, Rankin J, Rubinsztein DC (2000) Effects of heat shock, heat shock protein 40 (HDJ-2), and proteasome inhibition on protein aggregation in cellular models of Huntington's disease. Proc Natl Acad Sci U S A 97:2898-2903
-
(2000)
Proc Natl Acad Sci U S A
, vol.97
, pp. 2898-2903
-
-
Wyttenbach, A.1
Carmichael, J.2
Swartz, J.3
Furlong, R.A.4
Narain, Y.5
Rankin, J.6
Rubinsztein, D.C.7
-
133
-
-
0029015557
-
Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain
-
Yazawa I, Nukina N, Hashida H, Goto J, Yamada M, Kanazawa I (1995) Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain. Nat Genet 10:99-103
-
(1995)
Nat Genet
, vol.10
, pp. 99-103
-
-
Yazawa, I.1
Nukina, N.2
Hashida, H.3
Goto, J.4
Yamada, M.5
Kanazawa, I.6
-
134
-
-
84993912315
-
Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue
-
Zeitlin S, Liu JP, Chapman DL, Papaioannou VE, Efstratiadis A (1995) Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue. Nat Genet 11:155-163
-
(1995)
Nat Genet
, vol.11
, pp. 155-163
-
-
Zeitlin, S.1
Liu, J.P.2
Chapman, D.L.3
Papaioannou, V.E.4
Efstratiadis, A.5
-
135
-
-
0031278715
-
CAG repeats in SCA6: Anticipating new clues
-
Zoghbi HY (1997) CAG repeats in SCA6: anticipating new clues. Neurology 49:1196-1199
-
(1997)
Neurology
, vol.49
, pp. 1196-1199
-
-
Zoghbi, H.Y.1
-
137
-
-
0025871615
-
The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds
-
Zoghbi HY, Jodice C, Sandkuijl LA, Kwiatkowski TJ Jr, McCall AE, Huntoon SA, Lulli P, Spadaro M, Litt M, Cann HM, Frontali M, Terrenato L (1991) The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds. Am J Hum Genet 49:23-30
-
(1991)
Am J Hum Genet
, vol.49
, pp. 23-30
-
-
Zoghbi, H.Y.1
Jodice, C.2
Sandkuijl, L.A.3
Kwiatkowski T.J., Jr.4
McCall, A.E.5
Huntoon, S.A.6
Lulli, P.7
Spadaro, M.8
Litt, M.9
Cann, H.M.10
Frontali, M.11
Terrenato, L.12
-
138
-
-
0031012399
-
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
-
Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 15:62-69
-
(1997)
Nat Genet
, vol.15
, pp. 62-69
-
-
Zhuchenko, O.1
Bailey, J.2
Bonnen, P.3
Ashizawa, T.4
Stockton, D.W.5
Amos, C.6
Dobyns, W.B.7
Subramony, S.H.8
Zoghbi, H.Y.9
Lee, C.C.10
|