-
1
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
The Huntington's Disease Collaborative Research Group
-
The 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(6):971-983.
-
(1993)
Cell
, vol.72
, Issue.6
, pp. 971-983
-
-
-
2
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352(6330):77-79. (Pubitemid 21896702)
-
(1991)
Nature
, vol.352
, Issue.6330
, pp. 77-79
-
-
La, S.A.R.1
Wilson, E.M.2
Lubahn, D.B.3
Harding, A.E.4
Fischbeck, K.H.5
-
3
-
-
84862501578
-
Polyglutamine neurodegeneration: Expanded glutamines enhance native functions
-
Orr HT (2012) Polyglutamine neurodegeneration: Expanded glutamines enhance native functions. Curr Opin Genet Dev 22(3):251-255.
-
(2012)
Curr Opin Genet Dev
, vol.22
, Issue.3
, pp. 251-255
-
-
Orr, H.T.1
-
4
-
-
77958109197
-
Mechanisms of trinucleotide repeat instability during human development
-
McMurray CT (2010) Mechanisms of trinucleotide repeat instability during human development. Nat Rev Genet 11(11):786-799.
-
(2010)
Nat Rev Genet
, vol.11
, Issue.11
, pp. 786-799
-
-
McMurray, C.T.1
-
5
-
-
25844443895
-
History of genetic disease: The molecular genetics of Huntington disease - A history
-
Bates GP (2005) History of genetic disease: The molecular genetics of Huntington disease - a history. Nat Rev Genet 6(10):766-773.
-
(2005)
Nat Rev Genet
, vol.6
, Issue.10
, pp. 766-773
-
-
Bates, G.P.1
-
6
-
-
18544400323
-
Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo
-
DOI 10.1016/S0092-8674(00)80514-0
-
Scherzinger E, et al. (1997) Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo. Cell 90(3):549-558. (Pubitemid 27347244)
-
(1997)
Cell
, vol.90
, Issue.3
, pp. 549-558
-
-
Scherzinger, E.1
Lurz, R.2
Turmaine, M.3
Mangiarini, L.4
Hollenbach, B.5
Hasenbank, R.6
Bates, G.P.7
Davies, S.W.8
Lehrach, H.9
Wanker, E.E.10
-
7
-
-
0030752709
-
Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain
-
DOI 10.1126/science.277.5334.1990
-
DiFiglia M, et al. (1997) Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 277(5334):1990-1993. (Pubitemid 27449140)
-
(1997)
Science
, vol.277
, Issue.5334
, 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
-
8
-
-
77955643169
-
Molecular mechanisms and potential therapeutical targets in Huntington's disease
-
Zuccato C, Valenza M, Cattaneo E (2010) Molecular mechanisms and potential therapeutical targets in Huntington's disease. Physiol Rev 90(3):905-981.
-
(2010)
Physiol Rev
, vol.90
, Issue.3
, pp. 905-981
-
-
Zuccato, C.1
Valenza, M.2
Cattaneo, E.3
-
9
-
-
84878552569
-
RNA toxicity in polyglutamine disorders: Concepts, models, and progress of research
-
Fiszer A, Krzyzosiak WJ (2013) RNA toxicity in polyglutamine disorders: Concepts, models, and progress of research. J Mol Med (Berl) 91(6):683-691.
-
(2013)
J Mol Med (Berl)
, vol.91
, Issue.6
, pp. 683-691
-
-
Fiszer, A.1
Krzyzosiak, W.J.2
-
10
-
-
0036165417
-
Mouse models of Huntington's disease
-
DOI 10.1016/S0165-6147(00)01884-8, PII S0165614700018848
-
Menalled LB, Chesselet MF (2002) Mouse models of Huntington's disease. Trends Pharmacol Sci 23(1):32-39. (Pubitemid 34135973)
-
(2002)
Trends in Pharmacological Sciences
, vol.23
, Issue.1
, pp. 32-39
-
-
Menalled, L.B.1
Chesselet, M.-F.2
-
11
-
-
84883388081
-
Polyglutamine domain flexibility mediates the proximity between flanking sequences in huntingtin
-
Caron NS, Desmond CR, Xia J, Truant R (2013) Polyglutamine domain flexibility mediates the proximity between flanking sequences in huntingtin. Proc Natl Acad Sci USA 110:14610-14615.
-
(2013)
Proc Natl Acad Sci USA
, vol.110
, pp. 14610-14615
-
-
Caron, N.S.1
Desmond, C.R.2
Xia, J.3
Truant, R.4
-
12
-
-
33846540080
-
The first 17 amino acids of Huntingtin modulate its sub-cellular localization, aggregation and effects on calcium homeostasis
-
DOI 10.1093/hmg/ddl440
-
Rockabrand E, et al. (2007) The first 17 amino acids of Huntingtin modulate its sub-cellular localization, aggregation and effects on calcium homeostasis. Hum Mol Genet 16(1):61-77. (Pubitemid 46156597)
-
(2007)
Human Molecular Genetics
, vol.16
, Issue.1
, pp. 61-77
-
-
Rockabrand, E.1
Slepko, N.2
Pantalone, A.3
Nukala, V.N.4
Kazantsev, A.5
Marsh, J.L.6
Sullivan, P.G.7
Steffan, J.S.8
Sensi, S.L.9
Thompson, L.M.10
-
13
-
-
35448994487
-
Huntingtin has a membrane association signal that can modulate huntingtin aggregation, nuclear entry and toxicity
-
DOI 10.1093/hmg/ddm217
-
Atwal RS, et al. (2007) Huntingtin has a membrane association signal that can modulate huntingtin aggregation, nuclear entry and toxicity. Hum Mol Genet 16(21):2600-2615. (Pubitemid 47617727)
-
(2007)
Human Molecular Genetics
, vol.16
, Issue.21
, pp. 2600-2615
-
-
Atwal, R.S.1
Xia, J.2
Pinchev, D.3
Taylor, J.4
Epand, R.M.5
Truant, R.6
-
14
-
-
84878217830
-
The interaction of polyglutamine peptides with lipid membranes is regulated by flanking sequences associated with huntingtin
-
Burke KA, Kauffman KJ, Umbaugh CS, Frey SL, Legleiter J (2013) The interaction of polyglutamine peptides with lipid membranes is regulated by flanking sequences associated with huntingtin. J Biol Chem 288(21):14993-15005.
-
(2013)
J Biol Chem
, vol.288
, Issue.21
, pp. 14993-15005
-
-
Burke, K.A.1
Kauffman, K.J.2
Umbaugh, C.S.3
Frey, S.L.4
Legleiter, J.5
-
15
-
-
79959376288
-
Kinase inhibitors modulate huntingtin cell localization and toxicity
-
Atwal RS, et al. (2011) Kinase inhibitors modulate huntingtin cell localization and toxicity. Nat Chem Biol 7(7):453-460.
-
(2011)
Nat Chem Biol
, vol.7
, Issue.7
, pp. 453-460
-
-
Atwal, R.S.1
-
16
-
-
84857744138
-
Ganglioside GM1 induces phosphorylation of mutant huntingtin and restores normal motor behavior in Huntington disease mice
-
Di Pardo A, et al. (2012) Ganglioside GM1 induces phosphorylation of mutant huntingtin and restores normal motor behavior in Huntington disease mice. Proc Natl Acad Sci USA 109(9):3528-3533.
-
(2012)
Proc Natl Acad Sci USA
, vol.109
, Issue.9
, pp. 3528-3533
-
-
Di Pardo, A.1
-
17
-
-
0036796261
-
PACSIN 1 interacts with huntingtin and is absent from synaptic varicosities in presymptomatic Huntington's disease brains
-
Modregger J, DiProspero NA, Charles V, Tagle DA, Plomann M (2002) PACSIN 1 interacts with huntingtin and is absent from synaptic varicosities in presymptomatic Huntington's disease brains. Hum Mol Genet 11(21):2547-2558. (Pubitemid 35174685)
-
(2002)
Human Molecular Genetics
, vol.11
, Issue.21
, pp. 2547-2558
-
-
Modregger, J.1
DiProspero, N.A.2
Charles, V.3
Tagle, D.A.4
Plomann, M.5
-
18
-
-
15144353034
-
PACSIN, a brain protein that is upregulated upon differentiation into neuronal cells
-
Plomann M, et al. (1998) PACSIN, a brain protein that is upregulated upon differentiation into neuronal cells. Eur J Biochem 256(1):201-211. (Pubitemid 28399114)
-
(1998)
European Journal of Biochemistry
, vol.256
, Issue.1
, pp. 201-211
-
-
Plomann, M.1
Lange, R.2
Vopper, G.3
Cremer, H.4
Heinlein, U.A.O.5
Scheff, S.6
Baldwin, S.A.7
Leitges, M.8
Cramer, M.9
Paulsson, M.10
Barthels, D.11
-
19
-
-
33745751770
-
Endocytosis and synaptic removal of NR3A-containing NMDA receptors by PACSIN1/syndapin1
-
DOI 10.1038/nn1680, PII NN1680
-
Pérez-Otaño I, et al. (2006) Endocytosis and synaptic removal of NR3A-containing NMDA receptors by PACSIN1/syndapin1. Nat Neurosci 9(5):611-621. (Pubitemid 44012258)
-
(2006)
Nature Neuroscience
, vol.9
, Issue.5
, pp. 611-621
-
-
Perez-Otano, I.1
Lujan, R.2
Tavalin, S.J.3
Plomann, M.4
Modregger, J.5
Liu, X.-B.6
Jones, E.G.7
Heinemann, S.F.8
Lo, D.C.9
Ehlers, M.D.10
-
20
-
-
84882275870
-
Suppressing aberrant GluN3A expression rescues synaptic and behavioral impairments in Huntington's disease models
-
[published online ahead of print July 14, 2013]. doi: 10.1038/nm.3246
-
Marco S, et al. (2013) Suppressing aberrant GluN3A expression rescues synaptic and behavioral impairments in Huntington's disease models [published online ahead of print July 14, 2013]. Nat Med doi: 10.1038/nm.3246.
-
(2013)
Nat Med
-
-
Marco, S.1
|