-
1
-
-
0033614742
-
Huntington's disease: a clinical, genetic and molecular model for polyglutamine repeat disorders
-
Harper PS, (1999) Huntington's disease: a clinical, genetic and molecular model for polyglutamine repeat disorders. Philos Trans R Soc Lond B Biol Sci 354: 957-961.
-
(1999)
Philos Trans R Soc Lond B Biol Sci
, vol.354
, pp. 957-961
-
-
Harper, P.S.1
-
2
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
Huntington's disease collaborative research group
-
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
-
-
-
3
-
-
84858074593
-
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion
-
Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, et al. (2012) CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology 78: 690-695.
-
(2012)
Neurology
, vol.78
, pp. 690-695
-
-
Lee, J.M.1
Ramos, E.M.2
Lee, J.H.3
Gillis, T.4
Mysore, J.S.5
-
4
-
-
0022395922
-
Neuropathological classification of Huntington's disease
-
Vonsattel JP, Myers RH, Stevens TJ, Ferrante RJ, Bird ED, et al. (1985) Neuropathological classification of Huntington's disease. J Neuropath Exp Neurol 44: 559-577.
-
(1985)
J Neuropath Exp Neurol
, vol.44
, pp. 559-577
-
-
Vonsattel, J.P.1
Myers, R.H.2
Stevens, T.J.3
Ferrante, R.J.4
Bird, E.D.5
-
5
-
-
0038476184
-
Evidence for more widespread cerebral pathology in early HD: an MRI-based morphometric analysis
-
Rosas HD, Koroshetz WJ, Chen YI, Skeuse C, Vangel M, et al. (2003) Evidence for more widespread cerebral pathology in early HD: an MRI-based morphometric analysis. Neurology 60: 1615-1620.
-
(2003)
Neurology
, vol.60
, pp. 1615-1620
-
-
Rosas, H.D.1
Koroshetz, W.J.2
Chen, Y.I.3
Skeuse, C.4
Vangel, M.5
-
6
-
-
69949102831
-
Huntington's disease: The current state of research with peripheral tissues
-
Sassone J, Colciago C, Cislaghi G, Silani V, Ciammola A, (2009) Huntington's disease: The current state of research with peripheral tissues. Exp Neurol 219: 385-397.
-
(2009)
Exp Neurol
, vol.219
, pp. 385-397
-
-
Sassone, J.1
Colciago, C.2
Cislaghi, G.3
Silani, V.4
Ciammola, A.5
-
7
-
-
79954522923
-
Molecular biology of Huntington's disease
-
McFarland KN, Cha JH, (2011) Molecular biology of Huntington's disease. Handb Clin Neurol 100: 25-81.
-
(2011)
Handb Clin Neurol
, vol.100
, pp. 25-81
-
-
McFarland, K.N.1
Cha, J.H.2
-
8
-
-
0027240431
-
Trinucleotide repeat length instability and age of onset in Huntington's disease
-
Duyao M, Ambrose C, Myers R, Novelletto A, Persichetti F, et al. (1993) Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat Genet 4: 387-392.
-
(1993)
Nat Genet
, vol.4
, pp. 387-392
-
-
Duyao, M.1
Ambrose, C.2
Myers, R.3
Novelletto, A.4
Persichetti, F.5
-
9
-
-
0027363951
-
Gametic but not somatic instability of CAG repeat length in Huntington's disease
-
MacDonald ME, Barnes G, Srinidhi J, Duyao MP, Ambrose CM, et al. (1993) Gametic but not somatic instability of CAG repeat length in Huntington's disease. J Med Genet 30: 982-986.
-
(1993)
J Med Genet
, vol.30
, pp. 982-986
-
-
MacDonald, M.E.1
Barnes, G.2
Srinidhi, J.3
Duyao, M.P.4
Ambrose, C.M.5
-
10
-
-
0027745692
-
Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene
-
Zuhlke C, Riess O, Bockel B, Lange H, Thies U, (1993) Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene. Hum Mol Genet 2: 2063-2067.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 2063-2067
-
-
Zuhlke, C.1
Riess, O.2
Bockel, B.3
Lange, H.4
Thies, U.5
-
11
-
-
0028339385
-
Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
-
Telenius H, Kremer B, Goldberg YP, Theilmann J, Andrew SE, et al. (1994) Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nat Genet 6: 409-414.
-
(1994)
Nat Genet
, vol.6
, pp. 409-414
-
-
Telenius, H.1
Kremer, B.2
Goldberg, Y.P.3
Theilmann, J.4
Andrew, S.E.5
-
12
-
-
36348940966
-
Factors Associated with HD CAG repeat instability in Huntington's disease
-
Wheeler VC, Persichetti F, McNeil S. Mysore J, Mysore S, et al. (2007) Factors Associated with HD CAG repeat instability in Huntington's disease. J Med Genet 44: 695-701.
-
(2007)
J Med Genet
, vol.44
, pp. 695-701
-
-
Wheeler, V.C.1
Persichetti, F.2
McNeil, S.3
Mysore, J.4
Mysore, S.5
-
13
-
-
0346752132
-
Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis
-
Kennedy L, Evans E, Chen C, Craven L, Detloff P, et al. (2003) Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis. Hum Mol Genet 12: 3359-3367.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 3359-3367
-
-
Kennedy, L.1
Evans, E.2
Chen, C.3
Craven, L.4
Detloff, P.5
-
14
-
-
34447324387
-
Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brain
-
Shelbourne PF, Keller-McGandy C, Bi WL, Yoon SR, Dubeau L, et al. (2007) Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brain. Hum Mol Genet 16: 1133-142.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 1133-1142
-
-
Shelbourne, P.F.1
Keller-McGandy, C.2
Bi, W.L.3
Yoon, S.R.4
Dubeau, L.5
-
15
-
-
34247567905
-
Inherited CAG.CTG allele length is a major modifier of somatic mutation length variability in Huntington disease
-
Veitch NJ, Ennis M, McAbney JP, Shelbourne PF, Monckton DG, (2007) Inherited CAG.CTG allele length is a major modifier of somatic mutation length variability in Huntington disease. DNA Repair (Amst) 6: 789-796.
-
(2007)
DNA Repair (Amst)
, vol.6
, pp. 789-796
-
-
Veitch, N.J.1
Ennis, M.2
McAbney, J.P.3
Shelbourne, P.F.4
Monckton, D.G.5
-
16
-
-
42149156593
-
DNA instability in postmitotic neurons
-
Gonitel R, Moffitt H, Sathasivam K, Woodman B, Detloff PJ, et al. (2008) DNA instability in postmitotic neurons. Proc Natl Acad Sci USA 105: 3467-3472.
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 3467-3472
-
-
Gonitel, R.1
Moffitt, H.2
Sathasivam, K.3
Woodman, B.4
Detloff, P.J.5
-
17
-
-
68049113685
-
Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset
-
Swami M, Hendricks A, Gillis T, Massood T, Mysore JS, et al. (2009) Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset. Hum Mol Genet 18, 3039-3047.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3039-3047
-
-
Swami, M.1
Hendricks, A.2
Gillis, T.3
Massood, T.4
Mysore, J.S.5
-
18
-
-
0034639711
-
Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability
-
Fortune MT, Vassilopoulos C, Coolbaugh MI, Siciliano MJ, Monckton DG, (2000) Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability. Hum Mol Genet 9: 439-445.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 439-445
-
-
Fortune, M.T.1
Vassilopoulos, C.2
Coolbaugh, M.I.3
Siciliano, M.J.4
Monckton, D.G.5
-
19
-
-
0242524440
-
Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1
-
Watase K, Venken KJ, Sun Y, Orr HT, Zoghbi HY, (2003) Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1. Hum Mol Genet 12: 2789-2795.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2789-2795
-
-
Watase, K.1
Venken, K.J.2
Sun, Y.3
Orr, H.T.4
Zoghbi, H.Y.5
-
20
-
-
77955842264
-
Motor uncoordination and neuropathology in a transgenic mouse model of Machado-Joseph disease lacking intranuclear inclusions and ataxin-3 cleavage products
-
Silva-Fernandes A, Costa Mdo C, Duarte-Silva S, Oliveira P, Botelho CM, et al. (2010) Motor uncoordination and neuropathology in a transgenic mouse model of Machado-Joseph disease lacking intranuclear inclusions and ataxin-3 cleavage products. Neurobiol Dis 40: 163-176.
-
(2010)
Neurobiol Dis
, vol.40
, pp. 163-176
-
-
Silva-Fernandes, A.1
Costa, M.C.2
Duarte-Silva, S.3
Oliveira, P.4
Botelho, C.M.5
-
21
-
-
77952255626
-
A novel approach to investigate tissue-specific trinucleotide repeat instability
-
Lee JM, Zhang J, Su AI, Walker JR, Wiltshire T, et al. (2010) A novel approach to investigate tissue-specific trinucleotide repeat instability. BMC Syst Biol, 4, 29.
-
(2010)
BMC Syst Biol
, vol.4
, pp. 29
-
-
Lee, J.M.1
Zhang, J.2
Su, A.I.3
Walker, J.R.4
Wiltshire, T.5
-
22
-
-
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, et al. (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
-
23
-
-
0032938295
-
Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse
-
Wheeler VC, Auerbach W, White JK, Srinidhi J, Auerbach,et al. (1999) Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse. Hum Mol Genet: 8, 115-122.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 115-122
-
-
Wheeler, V.C.1
Auerbach, W.2
White, J.K.3
Srinidhi, J.4
Auerbach5
-
24
-
-
80052288666
-
Quantification of Age-Dependent Somatic CAG Repeat Instability in Hdh CAG Knock-In Mice Reveals Different Expansion Dynamics in Striatum and Liver
-
Lee JM, Pinto RM, Gillis T, St Claire JC, Wheeler VC, (2011) Quantification of Age-Dependent Somatic CAG Repeat Instability in Hdh CAG Knock-In Mice Reveals Different Expansion Dynamics in Striatum and Liver. PLoS One 6: e23647.
-
(2011)
PLoS One
, vol.6
-
-
Lee, J.M.1
Pinto, R.M.2
Gillis, T.3
St Claire, J.C.4
Wheeler, V.C.5
-
25
-
-
0037321290
-
Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum
-
Wheeler VC, Lebel LA, Vrbanac V, Teed A, Te Riele H, et al. (2003) Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum. Hum Mol Genet 12: 273-281.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 273-281
-
-
Wheeler, V.C.1
Lebel, L.A.2
Vrbanac, V.3
Teed, A.4
Te Riele, H.5
-
26
-
-
57449091694
-
Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes
-
Dragileva E, Hendricks A. Teed A, Gillis T, Lopez ET, et al. (2009) Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes. Neurobiol Dis 33: 37-47.
-
(2009)
Neurobiol Dis
, vol.33
, pp. 37-47
-
-
Dragileva, E.1
Hendricks, A.2
Teed, A.3
Gillis, T.4
Lopez, E.T.5
-
27
-
-
77249113263
-
An Msh2 conditional knockout mouse for studying intestinal cancer and testing anticancer agents
-
e1001
-
Kucherlapati MH, Lee K, Nguyen AA, Clark AB, Hou H, et al. (2010) An Msh2 conditional knockout mouse for studying intestinal cancer and testing anticancer agents. Gastroenterology 138: 993-1002 e1001.
-
(2010)
Gastroenterology
, vol.138
, pp. 993-1002
-
-
Kucherlapati, M.H.1
Lee, K.2
Nguyen, A.A.3
Clark, A.B.4
Hou, H.5
-
28
-
-
20044372186
-
DARPP-32 genomic fragments drive Cre expression in postnatal striatum
-
Bogush AI, McCarthy LE, Tian C, Olm V, Gieringer T, et al. (2005) DARPP-32 genomic fragments drive Cre expression in postnatal striatum. Genesis 42: 37-46.
-
(2005)
Genesis
, vol.42
, pp. 37-46
-
-
Bogush, A.I.1
McCarthy, L.E.2
Tian, C.3
Olm, V.4
Gieringer, T.5
-
29
-
-
0036303398
-
Mouse models for human DNA mismatch-repair gene defects
-
Wei K, Kucherlapati R, Edelmann W, (2002) Mouse models for human DNA mismatch-repair gene defects. Trends Mol Med 8: 346-353.
-
(2002)
Trends Mol Med
, vol.8
, pp. 346-353
-
-
Wei, K.1
Kucherlapati, R.2
Edelmann, W.3
-
30
-
-
0034163497
-
Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice
-
Wheeler VC, White JK, Gutekunst CA, Vrbanac V, Weaver M, et al. (2000) Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice. Hum Mol Genet 9: 503-513.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 503-513
-
-
Wheeler, V.C.1
White, J.K.2
Gutekunst, C.A.3
Vrbanac, V.4
Weaver, M.5
-
31
-
-
0037087771
-
Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice
-
Wheeler VC, Gutekunst CA, Vrbanac V, Lebel LA, Schilling G, et al. (2002) Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice. Hum Mol Genet 11: 633-640.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 633-640
-
-
Wheeler, V.C.1
Gutekunst, C.A.2
Vrbanac, V.3
Lebel, L.A.4
Schilling, G.5
-
32
-
-
33745593763
-
Genetic background modifies nuclear mutant huntingtin accumulation and HD CAG repeat instability in Huntington's disease knock-in mice
-
Lloret A, Dragileva E, Teed A, Espinola J, Fossale E, et al. (2006) Genetic background modifies nuclear mutant huntingtin accumulation and HD CAG repeat instability in Huntington's disease knock-in mice. Hum Mol Genet 15: 2015-2024.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 2015-2024
-
-
Lloret, A.1
Dragileva, E.2
Teed, A.3
Espinola, J.4
Fossale, E.5
-
33
-
-
0034641887
-
Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?
-
Kennedy L, Shelbourne PF, (2000) Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease? Hum Mol Genet 9: 2539-2544.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2539-2544
-
-
Kennedy, L.1
Shelbourne, P.F.2
-
34
-
-
78951494319
-
Defining genetic factors that modulate intergenerational CAG repeat instability in Drosophila melanogaster
-
Jung J, van Jaarsveld MT, Shieh SY, Xu K, Bonini NM, (2011) Defining genetic factors that modulate intergenerational CAG repeat instability in Drosophila melanogaster. Genetics 187: 61-71.
-
(2011)
Genetics
, vol.187
, pp. 61-71
-
-
Jung, J.1
van Jaarsveld, M.T.2
Shieh, S.Y.3
Xu, K.4
Bonini, N.M.5
-
35
-
-
0032708840
-
Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice
-
Manley K, Shirley TL, Flaherty L, Messer A, (1999) Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. Nat Genet 23: 471-473.
-
(1999)
Nat Genet
, vol.23
, pp. 471-473
-
-
Manley, K.1
Shirley, T.L.2
Flaherty, L.3
Messer, A.4
-
36
-
-
25844468819
-
(CAG)(n)-hairpin DNA binds to Msh2-Msh3 and changes properties of mismatch recognition
-
Owen BA Yang Z, Lai M, Gajek M, Badger JD 2nd, et al (2005) (CAG)(n)-hairpin DNA binds to Msh2-Msh3 and changes properties of mismatch recognition. Nat Struct Mol Biol 12: 663-670.
-
(2005)
Nat Struct Mol Biol
, vol.12
, pp. 663-670
-
-
Owen, B.A.1
Yang, Z.2
Lai, M.3
Gajek, M.4
Badger II, J.D.5
-
37
-
-
74249102052
-
Stoichiometry of base excision repair proteins correlates with increased somatic CAG instability in striatum over cerebellum In Huntington's disease transgenic mice
-
Goula AV, Berquist BR, Wilson DM 3rd, Wheeler VC, et al (2009) Stoichiometry of base excision repair proteins correlates with increased somatic CAG instability in striatum over cerebellum In Huntington's disease transgenic mice. PLoS Genet 5: e1000749.
-
(2009)
PLoS Genet
, vol.5
-
-
Goula, A.V.1
Berquist, B.R.2
Wilson III, D.M.3
Wheeler, V.C.4
-
38
-
-
81855206487
-
Xpa Deficiency Reduces CAG Trinucleotide Repeat Instability in Neuronal Tissues in a SCA1 Mouse Model
-
Hubert L Jr, Lin Y, Dion V, Wilson JH, (2011) Xpa Deficiency Reduces CAG Trinucleotide Repeat Instability in Neuronal Tissues in a SCA1 Mouse Model. Hum Mol Genet 20: 4822-30.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 4822-4830
-
-
Hubert Jr., L.1
Lin, Y.2
Dion, V.3
Wilson, J.H.4
-
39
-
-
32244438870
-
Transcription promotes contraction of CAG repeat tracts in hudman cells
-
Lin Y, Dion V, Wilson JH (2006) Transcription promotes contraction of CAG repeat tracts in hudman cells. Nat Struct Mol Biol, 13, 179-180.
-
(2006)
Nat StructMol Biol
, vol.13
, pp. 179-180
-
-
Lin, Y.1
Dion, V.2
Wilson, J.H.3
-
40
-
-
34147136044
-
CREB-binding protein modulates repeat instability in a Drosophila model for polyQ disease
-
Jung J, Bonini N (2007) CREB-binding protein modulates repeat instability in a Drosophila model for polyQ disease. Science, 315, 1857-1859.
-
(2007)
Science
, vol.315
, pp. 1857-1859
-
-
Jung, J.1
Bonini, N.2
-
41
-
-
32244438870
-
Transcription promotes contraction of CAG repeat tracts in human cells
-
Lin Y, Dion V, Wilson JH, (2006) Transcription promotes contraction of CAG repeat tracts in human cells. Nat Struct Mol Biol 13: 179-180.
-
(2006)
Nat Struct Mol Biol
, vol.13
, pp. 179-180
-
-
Lin, Y.1
Dion, V.2
Wilson, J.H.3
-
42
-
-
78651099242
-
Bidirectional transcription stimulates expansion and contraction of expanded (CTG)*(CAG) repeats
-
Nakamori M, Pearson CE, Thornton CA, (2011) Bidirectional transcription stimulates expansion and contraction of expanded (CTG)*(CAG) repeats. Hum Mol Genet 20: 580-588.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 580-588
-
-
Nakamori, M.1
Pearson, C.E.2
Thornton, C.A.3
-
43
-
-
80051695536
-
A natural antisense transcript at the Huntington's disease repeat locus regulates HTT expression
-
Chung DW, Rudnicki DD, Yu L, Margolis RL, (2011) A natural antisense transcript at the Huntington's disease repeat locus regulates HTT expression. Hum Mol Genet 20: 3467-3477.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 3467-3477
-
-
Chung, D.W.1
Rudnicki, D.D.2
Yu, L.3
Margolis, R.L.4
-
44
-
-
82955233889
-
Stabilization of expanded (CTG)*(CAG) repeats by antisense oligonucleotides
-
Nakamori M, Gourdon G, Thornton CA, (2011) Stabilization of expanded (CTG)*(CAG) repeats by antisense oligonucleotides. Mol Ther 19: 2222-2227.
-
(2011)
Mol Ther
, vol.19
, pp. 2222-2227
-
-
Nakamori, M.1
Gourdon, G.2
Thornton, C.A.3
-
45
-
-
0033804719
-
Somatic Apc mutations are selected upon their capacity to inactivate the beta-catenin downregulating activity
-
Smits R, Hofland N, Edelmann W, Geugien M, Jagmohan-Changur S, et al. (2000) Somatic Apc mutations are selected upon their capacity to inactivate the beta-catenin downregulating activity. Genes Chromosomes Cancer 29: 229-239.
-
(2000)
Genes Chromosomes Cancer
, vol.29
, pp. 229-239
-
-
Smits, R.1
Hofland, N.2
Edelmann, W.3
Geugien, M.4
Jagmohan-Changur, S.5
|