-
1
-
-
0023243363
-
Psychiatric manifestations of homocystinuria due to cystathionine β-synthase deficiency: Prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness
-
Abbott, M. H., Folstein, S. E., Abbey, H. & Pyeritz, R. E. 1987 Psychiatric manifestations of homocystinuria due to cystathionine β-synthase deficiency: prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness. Am. J. Med. Genet. 26, 959-969.
-
(1987)
Am. J. Med. Genet.
, vol.26
, pp. 959-969
-
-
Abbott, M.H.1
Folstein, S.E.2
Abbey, H.3
Pyeritz, R.E.4
-
2
-
-
0030959244
-
Role forN-CoR and histone deacetylase in Sin3-mediated transcriptional repression
-
Alland, L., Muhle, R., Hou Jr, H., Potes, J., Chin, L., Schreiber-Agus, N. & DePinho, R. A. 1997 Role for N-CoR and histone deacetylase in Sin3-mediated transcriptional repression. Nature 387, 49-55.
-
(1997)
Nature
, vol.387
, pp. 49-55
-
-
Alland, L.1
Muhle, R.2
Hou H., Jr.3
Potes, J.4
Chin, L.5
Schreiber-Agus, N.6
DePinho, R.A.7
-
3
-
-
0026043565
-
Chronic quinolinic acid lesions in rats closely resemble Huntington's disease
-
Beal, M. F., Ferrante, R. J., Swartz, K. J. & Kowall, N. W. 1991 Chronic quinolinic acid lesions in rats closely resemble Huntington's disease. J. Neurosci. 11, 1649-1659.
-
(1991)
J. Neurosci.
, vol.11
, pp. 1649-1659
-
-
Beal, M.F.1
Ferrante, R.J.2
Swartz, K.J.3
Kowall, N.W.4
-
4
-
-
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, M. W., Kotzuk, J. A., Sharp, A. H., Davies, S. W., Bates, G. P., Price, D. L. & Ross, C. A. 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
-
5
-
-
0030878098
-
Fast transport and retrograde movement of huntingtin and HAP 1 in axons
-
Block-Galarza, J., Chase, K. O., Sapp, E., Vaughn, K. T., Vallee, R. B., DiFiglia, M. & Aronin, N. 1997 Fast transport and retrograde movement of huntingtin and HAP 1 in axons. NeuroReport 8, 2247-2251.
-
(1997)
NeuroReport
, vol.8
, pp. 2247-2251
-
-
Block-Galarza, J.1
Chase, K.O.2
Sapp, E.3
Vaughn, K.T.4
Vallee, R.B.5
DiFiglia, M.6
Aronin, N.7
-
6
-
-
0031909798
-
Huntingtin interacts with cystathionine β-synthase
-
Boutell, J. M., Wood, J. D., Harper, P. S. & Jones, A. L. 1998 Huntingtin interacts with cystathionine β-synthase. Hum. Mol. Genet. 7, 371-378.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 371-378
-
-
Boutell, J.M.1
Wood, J.D.2
Harper, P.S.3
Jones, A.L.4
-
7
-
-
0029664992
-
Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH
-
Burke, J. R., Enghild, J.J., Martin, M. E., Jou, Y. S., Myers, R. M., Roses, A. D., Vance, J. M. & Strittmatter, W. J. 1996 Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH. Nature Med. 2, 347-350.
-
(1996)
Nature 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
-
8
-
-
0031895798
-
Nuclear receptor DAX-1 recruits nuclear receptor compressor N-CoR to steroidogenic factor 1
-
Crawford, P. A., Dorn, C., Sadovsky, Y. & Milbrandt, J. 1998 Nuclear receptor DAX-1 recruits nuclear receptor compressor N-CoR to steroidogenic factor 1. Mol. Cell. Biol. 18, 2949-2956.
-
(1998)
Mol. Cell. Biol.
, vol.18
, pp. 2949-2956
-
-
Crawford, P.A.1
Dorn, C.2
Sadovsky, Y.3
Milbrandt, J.4
-
9
-
-
16944364511
-
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
-
David, G. (and 18 others) 1997 Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nature Genet. 17, 65-70.
-
(1997)
Nature Genet.
, vol.17
, pp. 65-70
-
-
David, G.1
-
10
-
-
18544410106
-
Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation
-
Davies, S. W., Turmaine. M., Cozens, B. A., DiFiglia, M., Sharp, A. H., Ross, C. A., Scherzinger, E., Wanker, E. E., Mangiarini, L. & Bates, G. P. 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
-
11
-
-
0029816724
-
Subcellular localization of the Huntington's disease gene product in cell lines by immunofluorescence and biochemical subcellular fractionation
-
De Rooij, K. E., Dorsman, J. C., Smoor, M. A., Den Dunnen, J. T. & Van Ommen, G. J. 1996 Subcellular localization of the Huntington's disease gene product in cell lines by immunofluorescence and biochemical subcellular fractionation. Hum. Mol. Genet. 5, 1093-1099.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1093-1099
-
-
De Rooij, K.E.1
Dorsman, J.C.2
Smoor, M.A.3
Den Dunnen, J.T.4
Van Ommen, G.J.5
-
12
-
-
0025363346
-
Excitotoxic injury in the neostriatum: A model for Huntington's disease
-
DiFiglia, M. 1990 Excitotoxic injury in the neostriatum: a model for Huntington's disease. Trends Neurosci. 13, 286-289.
-
(1990)
Trends Neurosci.
, vol.13
, pp. 286-289
-
-
DiFiglia, M.1
-
13
-
-
0028989602
-
Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons
-
DiFiglia, M. (and 11 others) 1995 Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons. Neuron 14, 1075-1081.
-
(1995)
Neuron
, vol.14
, pp. 1075-1081
-
-
DiFiglia, M.1
-
14
-
-
0030752709
-
Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain
-
DiFiglia, M., Sapp, E., Chase, K. O., Davies, S. W., Bates, G. P., Vonsattel, J. P. & 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
-
-
0030726894
-
Huntingtin-associated protein 1 (HAP1) interacts with the p150Glued subunit of dynactin
-
Engelender, S., Sharp, A. H., Colomer, V., Tokito, M. K., Lanahan, A., Worley, P., Holzbaur, E. L. & Ross, C. A. 1997 Huntingtin-associated protein 1 (HAP1; interacts with the p150Glued subunit of dynactin. Hum. Mol. Genet. 6, 2205-2212.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 2205-2212
-
-
Engelender, S.1
Sharp, A.H.2
Colomer, V.3
Tokito, M.K.4
Lanahan, A.5
Worley, P.6
Holzbaur, E.L.7
Ross, C.A.8
-
16
-
-
0031662269
-
Huntingtin interacts with a family of WW domain proteins
-
Faber, P. W., Barnes, G. T., Srinidhi, J., Chen, J.. Gusella, J. F. & MacDonald, M. E. 1998 Huntingtin interacts with a family of WW domain proteins. Hum. Mol. Genet. 7, 1463-1474.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1463-1474
-
-
Faber, P.W.1
Barnes, G.T.2
Srinidhi, J.3
Chen, J.4
Gusella, J.F.5
MacDonald, M.E.6
-
17
-
-
0029152808
-
Identification and localization of huntingtin in brain and human lymphoblastoid cell-lines with anti-fusion protein antibodies
-
Gutekunst, C. A., Levey, A. I., Heilman, C. J., Whaley, W. L., Yi, H., Nash, N. R., Rees, H. D., Madden, J. J. & Hersch, S. M. 1995 Identification and localization of huntingtin in brain and human lymphoblastoid cell-lines with anti-fusion protein antibodies. Proc. Natl Acad. USA 92, 8710-8714.
-
(1995)
Proc. Natl Acad. USA
, vol.92
, pp. 8710-8714
-
-
Gutekunst, C.A.1
Levey, A.I.2
Heilman, C.J.3
Whaley, W.L.4
Yi, H.5
Nash, N.R.6
Rees, H.D.7
Madden, J.J.8
Hersch, S.M.9
-
18
-
-
0031007189
-
Histone deacetylase activity is required for full transcriptional repression by mSin3A
-
Hassig, C. A., Fleischer, T. C., Billin, A. N., Schreiber, S. L. & Ayer, D. E. 1997 Histone deacetylase activity is required for full transcriptional repression by mSin3A. Cell 89, 341-347.
-
(1997)
Cell
, vol.89
, pp. 341-347
-
-
Hassig, C.A.1
Fleischer, T.C.2
Billin, A.N.3
Schreiber, S.L.4
Ayer, D.E.5
-
19
-
-
0028799793
-
Early loss of neostriatal striosome neurons in Huntington's disease
-
Hedreen, J. G. & Folstein, S. E. 1995 Early loss of neostriatal striosome neurons in Huntington's disease. J. Neuropathol. Exp. Neurol. 54, 105-120.
-
(1995)
J. Neuropathol. Exp. Neurol.
, vol.54
, pp. 105-120
-
-
Hedreen, J.G.1
Folstein, S.E.2
-
20
-
-
17744413444
-
A complex containing N-CoR, mSin3 and histone deacetylase mediates transcriptional repression
-
Heinzel, T. (and 14 others) 1997 A complex containing N-CoR, mSin3 and histone deacetylase mediates transcriptional repression. Nature 387, 43-48.
-
(1997)
Nature
, vol.387
, pp. 43-48
-
-
Heinzel, T.1
-
21
-
-
0029132202
-
Ligand-independent repression by the thyroid-hormone receptor mediated by a nuclear receptor co-repressor
-
Horlein, A. J. and 10 others) 1995 Ligand-independent repression by the thyroid-hormone receptor mediated by a nuclear receptor co-repressor. Nature 377, 397-404.
-
(1995)
Nature
, vol.377
, pp. 397-404
-
-
Horlein, A.J.1
-
22
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
Huntington's Disease Collaborative Research 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
-
-
-
23
-
-
17344362229
-
Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch
-
Igarashi, S. (and 18 others) 1998 Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch. Nature Genet. 18, 111-117.
-
(1998)
Nature Genet.
, vol.18
, pp. 111-117
-
-
Igarashi, S.1
-
24
-
-
0030294345
-
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
-
Imbert, G. (and 14 others) 1996 Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nalure Genet. 13, 285-291.
-
(1996)
Nalure Genet.
, vol.13
, pp. 285-291
-
-
Imbert, G.1
-
25
-
-
85020807649
-
Two more interactions of huntingtin
-
Jones, A. L., Boutell, J. M., Wood, J. D. & Harper, P. S. 1997 Two more interactions of huntingtin. Am. J. Hum. Genet. 61, A311.
-
(1997)
Am. J. Hum. Genet.
, vol.61
-
-
Jones, A.L.1
Boutell, J.M.2
Wood, J.D.3
Harper, P.S.4
-
26
-
-
0343924289
-
Repression by Ume6 involves recruitment of a complex containing Sin3 corepressor and Rpd3 histone deacetylase to target promoters
-
Kadosh, D. & Struhl, K. 1997 Repression by Ume6 involves recruitment of a complex containing Sin3 corepressor and Rpd3 histone deacetylase to target promoters. Cell 89, 365-371.
-
(1997)
Cell
, vol.89
, pp. 365-371
-
-
Kadosh, D.1
Struhl, K.2
-
27
-
-
9444239187
-
Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme
-
Kalchman, M. A., Graham, R. K., Xia, G., Koide, H. B., Hodgson, J. G., Graham, K. C., Goldberg, Y. P., Gietz, R. D., Pickart, C. M. & Hayden, M. R. 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
Graham, K.C.6
Goldberg, Y.P.7
Gietz, R.D.8
Pickart, C.M.9
Hayden, M.R.10
-
28
-
-
0030986659
-
HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain
-
Kalchman, M. A. (and 13 others) 1997 HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain. Nature Genet. 16, 44-53.
-
(1997)
Nature Genet.
, vol.16
, pp. 44-53
-
-
Kalchman, M.A.1
-
29
-
-
0028143527
-
CAG expansions in a novel gene for Machado Joseph disease at chromosome 14q32.1
-
Kawaguchi, Y. (and 12 others) 1994 CAG expansions in a novel gene for Machado Joseph disease at chromosome 14q32.1. Nature Genet. 8, 221-228.
-
(1994)
Nature Genet.
, vol.8
, pp. 221-228
-
-
Kawaguchi, Y.1
-
30
-
-
0032475941
-
Ataxin-1 nuclear localization and aggregation: Role in polyglutamine-induced disease in SCA1 transgenic mice
-
Klement, I. A., Skinner, P. J., Kaytor, M. D., Yi, H., Hersch, S. M., Clark, H. B., Zoghbi, H. Y. & Orr, H. T. 1998 Ataxin-1 nuclear 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
-
31
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
-
Koide, R. (and 15 others) 1991 Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet. 6, 9-13.
-
(1991)
Nature Genet.
, vol.6
, pp. 9-13
-
-
Koide, R.1
-
32
-
-
0025617207
-
Molecular analysis of cystathionine β-synthase-a gene on chromosome 21
-
Kraus, J. P. 1990 Molecular analysis of cystathionine β-synthase-a gene on chromosome 21. Prog. Clin. Biol. Res. 360, 201-214.
-
(1990)
Prog. Clin. Biol. Res.
, vol.360
, pp. 201-214
-
-
Kraus, J.P.1
-
33
-
-
0030969516
-
Histone deacetylases associated with the mSin3 corepressor mediate mad transcriptional repression
-
Laherty, C. D., Yang, W. M., Sun, J. M., Davie, J. R., Seto, E. & Eisenrnan, R. N. 1997 Histone deacetylases associated with the mSin3 corepressor mediate mad transcriptional repression. Cell 89, 349-356.
-
(1997)
Cell
, vol.89
, pp. 349-356
-
-
Laherty, C.D.1
Yang, W.M.2
Sun, J.M.3
Davie, J.R.4
Seto, E.5
Eisenrnan, R.N.6
-
34
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
La Spada, A. R., Wilson, E. M., Lubahn, D. B., Harding, A. E. & Fischbeck, K. H. 1991 Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352, 77-79.
-
(1991)
Nature
, vol.352
, pp. 77-79
-
-
La Spada, A.R.1
Wilson, E.M.2
Lubahn, D.B.3
Harding, A.E.4
Fischbeck, K.H.5
-
35
-
-
11744282298
-
Diverse signalling pathways modulate nuclear receptor recruitment of N-CoR and SMRT complexes
-
Lavinsky, R. M. (and 14 others) 1998 Diverse signalling pathways modulate nuclear receptor recruitment of N-CoR and SMRT complexes. Proc. Natl Acad. Sci. USA 95, 2920-2925.
-
(1998)
Proc. Natl Acad. Sci. USA
, vol.95
, pp. 2920-2925
-
-
Lavinsky, R.M.1
-
36
-
-
15144342225
-
Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy
-
Li, M., Miwa, S., Kobayashi, Y., Merry, D. E., Yamamoto, M., Tanaka, F., Doyu, M., Hashizume, Y., Fischbeck, K. H. & Sobue, G. 1990 Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy, Ann. Neurol. 44, 249-254.
-
(1990)
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
-
37
-
-
0028803757
-
A huntingtin-associated protein enriched in brain with implications for pathology
-
Li, X. J., Li, S. H., Sharp, A. H., Nucifora Jr, F. C., Schilling, G., Lanahan, A., Worley, P., Snyder. S. H. & Ross, C. A. 1995 A huntingtin-associated protein enriched in brain with 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
-
38
-
-
0031680014
-
A cellular model that recapitulates major pathogenic steps of Huntington's disease
-
Lunke, A. & Mandel, J.-L. 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
-
-
Lunke, A.1
Mandel, J.-L.2
-
39
-
-
37049245459
-
Homocystinuria: An enzymatic defect
-
Mudd, S. H., Finkelstein, J. D., Irreverre, F. & Laster, L. 1964 Homocystinuria: an enzymatic defect. Science 143, 1443.
-
(1964)
Science
, vol.143
, pp. 1443
-
-
Mudd, S.H.1
Finkelstein, J.D.2
Irreverre, F.3
Laster, L.4
-
40
-
-
0021894152
-
The natural history of homocystinuria due to cystathionine β-synthase deficiency
-
Mudd, S. H. (and 13 others) 1985 The natural history of homocystinuria due to cystathionine β-synthase deficiency. Am. J. Hum. Genet. 37, 1-31.
-
(1985)
Am. J. Hum. Genet.
, vol.37
, pp. 1-31
-
-
Mudd, S.H.1
-
41
-
-
0000167774
-
Disorders of transsulfuration
-
(ed. C. R. Scriver, A. L. Beaudet, W. S. Sly & D. Valle). New York: McGraw-Hill
-
Mudd, S. H., Levy, H. L. & Skovby, F. 1995 Disorders of transsulfuration. In The metabolic and molecular bases of inherited disease, 7th edn (ed. C. R. Scriver, A. L. Beaudet, W. S. Sly & D. Valle), pp. 1279-1327. New York: McGraw-Hill.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, 7th Edn
, pp. 1279-1327
-
-
Mudd, S.H.1
Levy, H.L.2
Skovby, F.3
-
42
-
-
0032526615
-
The corepressor N-CoR and its variants RIP13a and RIP13Delta1 directly interact with the basal transcription factors TFHB, TAFH32 and TAFH70
-
Muscat, G. E., Burke, L. J. & Downes, M. 1998 The corepressor N-CoR and its variants RIP13a and RIP13Delta1 directly interact with the basal transcription factors TFHB, TAFH32 and TAFH70. Nucl. Acids Res. 26, 2899-2907.
-
(1998)
Nucl. Acids Res.
, vol.26
, pp. 2899-2907
-
-
Muscat, G.E.1
Burke, L.J.2
Downes, M.3
-
43
-
-
0028335386
-
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome-12p
-
Nagafuchi, S. (and 22 others) 1994 Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome-12p. Nature Genet. 6, 14-18.
-
(1994)
Nature Genet.
, vol.6
, pp. 14-18
-
-
Nagafuchi, S.1
-
44
-
-
0030953186
-
Nuclear receptor repression mediated by a complex containing SMRT, mSin3A, and histone deacetylase
-
Nagy, L., Kao, H. Y., Chakravarti, D., Lin, R. J., Hassig. C. A., Ayer, D. E., Schreiber, S. L. & Evans, R. M. 1997 Nuclear receptor repression mediated by a complex containing SMRT, mSin3A, and histone deacetylase. Cell 89, 373-380.
-
(1997)
Cell
, vol.89
, pp. 373-380
-
-
Nagy, L.1
Kao, H.Y.2
Chakravarti, D.3
Lin, R.J.4
Hassig, C.A.5
Ayer, D.E.6
Schreiber, S.L.7
Evans, R.M.8
-
45
-
-
0015438779
-
Unusual sulfur-containing amino acids in the urine of homocystinuric patients. III. Homocysteic acid, homocysteine sulfinic acid, S-(carboxy-methylthio)homocysteine, and S-(3-hydroxy-3-carboxy-n-propyl)homocysteine
-
Omori, S., Kodama, H., Ikegami, T., Mizuhara, S., Oura, T., Isshiki, G. & Uemera, I. 1972 Unusual sulfur-containing amino acids in the urine of homocystinuric patients. III. Homocysteic acid, homocysteine sulfinic acid, S-(carboxy-methylthio)homocysteine, and S-(3-hydroxy-3-carboxy-n-propyl)homocysteine. Physiol. Chem. Phys. 4, 286-294.
-
(1972)
Physiol. Chem. Phys.
, vol.4
, pp. 286-294
-
-
Omori, S.1
Kodama, H.2
Ikegami, T.3
Mizuhara, S.4
Oura, T.5
Isshiki, G.6
Uemera, I.7
-
46
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type-1
-
Orr, H. T., Chung, M. Y., Banfi, S., Kwiatkowski, T. J., Servadio, A., Beaudet, A. L., Mccall, A. E., Duvick, L. A., Ranum, L. P. W. & Zoghbi, H. Y. 1993 Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type-1. Nature Genet. 4, 221-226.
-
(1993)
Nature Genet.
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.Y.2
Banfi, S.3
Kwiatkowski, T.J.4
Servadio, A.5
Beaudet, A.L.6
McCall, A.E.7
Duvick, L.A.8
Ranum, L.P.W.9
Zoghbi, H.Y.10
-
47
-
-
0030850412
-
Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3
-
Paulson, H. L., Perez, M. K., Trottier, Y., Trojanowski, J. Q., Subramony, S. H., Das, S. S., Vig, P., Mandel, J. L., Fischbeck, K. H. & Pittman, R. N. 1997 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
-
48
-
-
0030916336
-
What's up and down in histone deacetylation and transcription?
-
Pazin, M. J. & Kadonga, J. T. 1997 What's up and down in histone deacetylation and transcription? Cell 89, 325-328.
-
(1997)
Cell
, vol.89
, pp. 325-328
-
-
Pazin, M.J.1
Kadonga, J.T.2
-
49
-
-
0022339972
-
Radioenzymic determination of homocysteine in plasma and urine
-
Refsum, H., Helland, S. & Ueland, P. M. 1985 Radioenzymic determination of homocysteine in plasma and urine. Clin. Chem. 31. 624-628.
-
(1985)
Clin. Chem.
, vol.31
, pp. 624-628
-
-
Refsum, H.1
Helland, S.2
Ueland, P.M.3
-
50
-
-
0029089172
-
When more is less: Pathogenesis of glutamine repeat neurodegenerative diseases
-
Ross, C. A. 1995 When more is less: pathogenesis of glutamine repeat neurodegenerative diseases. Neuron 15, 493-496.
-
(1995)
Neuron
, vol.15
, pp. 493-496
-
-
Ross, C.A.1
-
51
-
-
0030771894
-
Huntingtin localization in brains of normal and Huntington's disease patients
-
Sapp, E., Schwarz, C., Chase, K., Bhide, P. G., Young, A. B., Penney, J., Vonsattel, J. P., 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
-
52
-
-
0032475931
-
Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions
-
Sandon, F., Finkbeiner, S., Devys, D. & Greenberg, M. E. 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
-
-
Sandon, F.1
Finkbeiner, S.2
Devys, D.3
Greenberg, M.E.4
-
53
-
-
0025845901
-
N-Methyl-D-aspartate receptors and CNS symptoms of homocystinuria
-
Schwarz, S. & Zhou, G. Z. 1991 N-Methyl-D-aspartate receptors and CNS symptoms of homocystinuria. Lancet 337, 1226-1227.
-
(1991)
Lancet
, vol.337
, pp. 1226-1227
-
-
Schwarz, S.1
Zhou, G.Z.2
-
54
-
-
0025079327
-
I-homocysteate stimulates [3H]MK-801 binding to the phencyclidine recognition site and thus is an agonist for the N-methyl-D-aspartate operated cation channel
-
Schwarz, S., Zhou, G. Z., Katki, A. G. & Rodbard, D. 1990 I-homocysteate stimulates [3H]MK-801 binding to the phencyclidine recognition site and thus is an agonist for the N-methyl-D-aspartate operated cation channel. Neuroscience 37, 193-200.
-
(1990)
Neuroscience
, vol.37
, pp. 193-200
-
-
Schwarz, S.1
Zhou, G.Z.2
Katki, A.G.3
Rodbard, D.4
-
55
-
-
0032052003
-
Huntingtin protein colocalizes with lesions of neurodegenerative disease: An investigation in Huntington's, Alzheimer's and Pick's diseases
-
Singhrao, S. K., Thomas, P., Wood, J. D., MacMillan, J. C., Neal, J. W., Harper, P. S. & Jones, A. L. 1998 Huntingtin protein colocalizes with lesions of neurodegenerative disease: an investigation in Huntington's, Alzheimer's and Pick's diseases. Exp. Neurol. 150, 213-222.
-
(1998)
Exp. Neurol.
, vol.150
, pp. 213-222
-
-
Singhrao, S.K.1
Thomas, P.2
Wood, J.D.3
MacMillan, J.C.4
Neal, J.W.5
Harper, P.S.6
Jones, A.L.7
-
56
-
-
0032186107
-
SH3GL3 associates with the huntingtin exon 1 protein and promotes the formation of polygln-containing protein aggregates
-
Sittler, A., Walter S., Wedemeyer, N., Hasenbank, R., Scherzinger, E., Eickhoff, H., Bates, G. P., Lehrach, H. & Wanker, E. E. 1998 SH3GL3 associates with the huntingtin exon 1 protein and promotes the formation of polygln-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
-
57
-
-
0030666001
-
Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associaied structures
-
Skinner, P. J., Koshy, B. T., Cummings, C. J., Klement, I. A., Helin, K., Servadio, A., Zoghbi, H. Y. & Orr, H. T. 1997 Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associaied 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
-
58
-
-
0021354796
-
Biosynthesis and proteolytic activation of cystathionine β-synthase in rat liver
-
Skovby, F., Kraus, J. P. & Rosenberg, L. E. 1984 Biosynthesis and proteolytic activation of cystathionine β-synthase in rat liver. J. Biol. Chem. 259, 588-593.
-
(1984)
J. Biol. Chem.
, vol.259
, pp. 588-593
-
-
Skovby, F.1
Kraus, J.P.2
Rosenberg, L.E.3
-
59
-
-
0029932598
-
A mammalian histone deacetylase related to the yeast transcriptional regulator Rpd3p
-
Taunton, J., Hassig, C. A. & Schreiber, S. L. 1996 A mammalian histone deacetylase related to the yeast transcriptional regulator Rpd3p. Science 272, 408-411.
-
(1996)
Science
, vol.272
, pp. 408-411
-
-
Taunton, J.1
Hassig, C.A.2
Schreiber, S.L.3
-
60
-
-
0029055601
-
Cellular-localization of the Huntington's disease protein and discrimination of the normal and mutated form
-
Trottier, Y., Devys, D., Imbert, C., Saudou, F., An, I., Lutz, Y., Weber, C., Agid, Y., Hirsch, E. C. & Mandel, J. L. 1995 Cellular-localization of the Huntington's disease protein and discrimination of the normal and mutated form. Nature Genet. 10, 104-110.
-
(1995)
Nature Genet.
, vol.10
, pp. 104-110
-
-
Trottier, Y.1
Devys, D.2
Imbert, C.3
Saudou, F.4
An, I.5
Lutz, Y.6
Weber, C.7
Agid, Y.8
Hirsch, E.C.9
Mandel, J.L.10
-
61
-
-
0031056478
-
HIP-1: A huntingtin interacting protein isolated by the yeast two-hybrid system
-
Wanker, E. E., Rovira, C., Scherzinger, E., Hasenbank, R., Walter, S., Tait, D., Colicelli, J. & Lehrach, H. 1997 HIP-1: 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
-
62
-
-
0032541637
-
Signal-specific co-activator domain requirements for Pit-1 activation
-
Xu, L. (and 13 others) 1998 Signal-specific co-activator domain requirements for Pit-1 activation. Nature 395, 301-306.
-
(1998)
Nature
, vol.395
, pp. 301-306
-
-
Xu, L.1
-
63
-
-
0029850458
-
Transcriptional repression by YY1 is mediated by interaction with a mammalian homolog of the yeast global regulator RPD3
-
Yang, W. M., Inouye, C., Zeng, Y., Bearss, D. & Seto, E. 1996 Transcriptional repression by YY1 is mediated by interaction with a mammalian homolog of the yeast global regulator RPD3 Proc. Natl Acad. Sci. USA 93, 12845-12850.
-
(1996)
Proc. Natl Acad. Sci. USA
, vol.93
, pp. 12845-12850
-
-
Yang, W.M.1
Inouye, C.2
Zeng, Y.3
Bearss, D.4
Seto, E.5
-
64
-
-
0030916729
-
Histone deacetylases and SAP18, a novel polypeptide, are components of a human Sin3 complex
-
Zhang, Y., Iratni, R., Erdjument-Bromage, H., Tempst, P. & Reinberg, D. 1997 Histone deacetylases and SAP18, a novel polypeptide, are components of a human Sin3 complex. Cell 89, 357-364.
-
(1997)
Cell
, vol.89
, pp. 357-364
-
-
Zhang, Y.1
Iratni, R.2
Erdjument-Bromage, H.3
Tempst, P.4
Reinberg, D.5
-
65
-
-
0031012399
-
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1a-voltage-dependent calcium channel
-
Zhuchenko, O., Bailey, J., Bonnen, P., Ashizawa, T., Stockton, D. W., Amos, C., Dobyns, W. B., Subramony, S. H., Zoghbi, H. Y. & Lee, C. C. 1997 Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel. Nature Genet. 15, 62-69.
-
(1997)
Nature 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
|