-
1
-
-
0842281551
-
Principles of protein folding, misfolding and aggregation
-
Dobson, C.M. (2004) Principles of protein folding, misfolding and aggregation. Semin. Cell Dev. Biol., 15, 3-16.
-
(2004)
Semin. Cell Dev. Biol.
, vol.15
, pp. 3-16
-
-
Dobson, C.M.1
-
2
-
-
33746099650
-
Protein aggregation in crowded environments
-
Ellis, R.J. and Minton, A.P. (2006) Protein aggregation in crowded environments. Biol. Chem., 387, 485-497.
-
(2006)
Biol. Chem.
, vol.387
, pp. 485-497
-
-
Ellis, R.J.1
Minton, A.P.2
-
3
-
-
7744232493
-
Misfolded proteins, endoplasmic reticulum stress and neurodegeneration
-
Rao, R.V. and Bredesen, D.E. (2004) Misfolded proteins, endoplasmic reticulum stress and neurodegeneration. Curr. Opin. Cell. Biol., 16, 653-662.
-
(2004)
Curr. Opin. Cell. Biol.
, vol.16
, pp. 653-662
-
-
Rao, R.V.1
Bredesen, D.E.2
-
4
-
-
16944366666
-
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
-
Ozelius, L.J., Hewett, J.W., Page, C.E., Bressman, S.B., Kramer, P.L., Shalish, C., de Leon, D., Brin, M.F., Raymond, D., Corey, D.P. et al. (1997) The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat. Genet., 17, 40-48.
-
(1997)
Nat. Genet.
, vol.17
, pp. 40-48
-
-
Ozelius, L.J.1
Hewett, J.W.2
Page, C.E.3
Bressman, S.B.4
Kramer, P.L.5
Shalish, C.6
de Leon, D.7
Brin, M.F.8
Raymond, D.9
Corey, D.P.10
-
5
-
-
0032969563
-
AAA+: a class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes
-
Neuwald, A.F., Aravind, L., Spouge, J.L. and Koonin, E.V. (1999) AAA+: a class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes. Genome Res., 9, 27-43.
-
(1999)
Genome Res.
, vol.9
, pp. 27-43
-
-
Neuwald, A.F.1
Aravind, L.2
Spouge, J.L.3
Koonin, E.V.4
-
6
-
-
21744446127
-
AAA+ proteins: have engine, will work
-
Hanson, P.I. and Whiteheart, S.W. (2005) AAA+ proteins: have engine, will work. Nat. Rev. Mol. Cell. Biol., 6, 519-529.
-
(2005)
Nat. Rev. Mol. Cell. Biol.
, vol.6
, pp. 519-529
-
-
Hanson, P.I.1
Whiteheart, S.W.2
-
7
-
-
0033572356
-
The TOR1A (DYT1) gene family and its role in early onset torsion dystonia
-
Ozelius, L.J., Page, C.E., Klein, C., Hewett, J.W., Mineta, M., Leung, J., Shalish, C., Bressman, S.B., de Leon, D., Brin, M.F. et al. (1999) The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. Genomics, 62, 377-384.
-
(1999)
Genomics
, vol.62
, pp. 377-384
-
-
Ozelius, L.J.1
Page, C.E.2
Klein, C.3
Hewett, J.W.4
Mineta, M.5
Leung, J.6
Shalish, C.7
Bressman, S.B.8
de Leon, D.9
Brin, M.F.10
-
8
-
-
0034623158
-
TorsinA and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations
-
Kustedjo, K., Bracey, M.H. and Cravatt, B.F. (2000) TorsinA and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations. J. Biol. Chem., 275, 27933-27939.
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 27933-27939
-
-
Kustedjo, K.1
Bracey, M.H.2
Cravatt, B.F.3
-
9
-
-
34249850241
-
Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells
-
Hewett, J.W., Tannous, B., Niland, B.P., Nery, F.C., Zeng, J., Li, Y. and Breakefield, X.O. (2007) Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells. Proc. Natl Acad. Sci. USA, 104, 7271-7276.
-
(2007)
Proc. Natl Acad. Sci. USA
, vol.104
, pp. 7271-7276
-
-
Hewett, J.W.1
Tannous, B.2
Niland, B.P.3
Nery, F.C.4
Zeng, J.5
Li, Y.6
Breakefield, X.O.7
-
10
-
-
43049088486
-
siRNA knock-down of mutant torsinA restores processing through secretory pathway in DYT1 dystonia cells
-
Hewett, J.W., Nery, F.C., Niland, B., Ge, P., Tan, P., Hadwiger, P., Tannous, B.A., Sah, D.W. and Breakefield, X.O. (2008) siRNA knock-down of mutant torsinA restores processing through secretory pathway in DYT1 dystonia cells. Hum. Mol. Genet., 17, 1436-1445.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 1436-1445
-
-
Hewett, J.W.1
Nery, F.C.2
Niland, B.3
Ge, P.4
Tan, P.5
Hadwiger, P.6
Tannous, B.A.7
Sah, D.W.8
Breakefield, X.O.9
-
11
-
-
33846548556
-
Biosynthesis of the dystonia-associated AAA+ ATPase torsinA at the endoplasmic reticulum
-
Callan, A.C., Bunning, S., Jones, O.T., High, S. and Swanton, E. (2007) Biosynthesis of the dystonia-associated AAA+ ATPase torsinA at the endoplasmic reticulum. Biochem. J., 401, 607-612.
-
(2007)
Biochem. J.
, vol.401
, pp. 607-612
-
-
Callan, A.C.1
Bunning, S.2
Jones, O.T.3
High, S.4
Swanton, E.5
-
12
-
-
0031956142
-
Expression of the early-onset torsion dystonia gene (DYT1) in human brain
-
13
-
Augood, S.J., Penney, J.B. Jr., Friberg, I.K., Breakefield, X.O., Young, A.B., Ozelius, L.J. and Standaert, D.G. (1998) Expression of the early-onset torsion dystonia gene (DYT1) in human brain. Ann. Neurol., 43, 669-673. 13.
-
(1998)
Ann. Neurol.
, vol.43
, pp. 669-673
-
-
Augood, S.J.1
Penney J.B., Jr.2
Friberg, I.K.3
Breakefield, X.O.4
Young, A.B.5
Ozelius, L.J.6
Standaert, D.G.7
-
13
-
-
0033987354
-
Immunohistochemical localization and distribution of torsinA in normal human and rat brain
-
Shashidharan, P., Kramer, B.C., Walker, R.H., Olanow, C.W. and Brin, M.F. (2000) Immunohistochemical localization and distribution of torsinA in normal human and rat brain. Brain Res., 853, 197-206.
-
(2000)
Brain Res.
, vol.853
, pp. 197-206
-
-
Shashidharan, P.1
Kramer, B.C.2
Walker, R.H.3
Olanow, C.W.4
Brin, M.F.5
-
14
-
-
0037329443
-
TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion
-
Rostasy, K., Augood, S.J., Hewett, J.W., Leung, J.C., Sasaki, H., Ozelius, L.J., Ramesh, V., Standaert, D.G., Breakefield, X.O. and Hedreen, J.C. (2003) TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion. Neurobiol. Dis., 12, 11-24.
-
(2003)
Neurobiol. Dis.
, vol.12
, pp. 11-24
-
-
Rostasy, K.1
Augood, S.J.2
Hewett, J.W.3
Leung, J.C.4
Sasaki, H.5
Ozelius, L.J.6
Ramesh, V.7
Standaert, D.G.8
Breakefield, X.O.9
Hedreen, J.C.10
-
15
-
-
1642290757
-
Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia
-
Gonzalez-Alegre, P. and Paulson, H.L. (2004) Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia. J. Neurosci., 24, 593-601.
-
(2004)
J. Neurosci.
, vol.24
, pp. 593-601
-
-
Gonzalez-Alegre, P.1
Paulson, H.L.2
-
16
-
-
1642433201
-
Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation
-
Goodchild, R.E. and Dauer, W.T. (2004) Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. Proc. Natl Acad. Sci. USA, 101, 847-852.
-
(2004)
Proc. Natl Acad. Sci. USA
, vol.101
, pp. 847-852
-
-
Goodchild, R.E.1
Dauer, W.T.2
-
17
-
-
2442637778
-
TorsinA in the nuclear envelope
-
Naismith, T.V., Heuser, J.E., Breakefield, X.O. and Hanson, P.I. (2004) TorsinA in the nuclear envelope. Proc. Natl Acad. Sci. USA, 101, 7612-7617.
-
(2004)
Proc. Natl Acad. Sci. USA
, vol.101
, pp. 7612-7617
-
-
Naismith, T.V.1
Heuser, J.E.2
Breakefield, X.O.3
Hanson, P.I.4
-
18
-
-
0036846119
-
TorsinA and heat shock proteins act as molecular chaperones: suppression of alpha-synuclein aggregation
-
McLean, P.J., Kawamata, H., Shariff, S., Hewett, J., Sharma, N., Ueda, K., Breakefield, X.O. and Hyman, B.T. (2002) TorsinA and heat shock proteins act as molecular chaperones: suppression of alpha-synuclein aggregation. J. Neurochem., 83, 846-854.
-
(2002)
J. Neurochem.
, vol.83
, pp. 846-854
-
-
McLean, P.J.1
Kawamata, H.2
Shariff, S.3
Hewett, J.4
Sharma, N.5
Ueda, K.6
Breakefield, X.O.7
Hyman, B.T.8
-
19
-
-
0037319121
-
Suppression of polyglutamine-induced protein aggregation in Caenorhabditis elegans by torsin proteins
-
Caldwell, G.A., Cao, S., Sexton, E.G., Gelwix, C.C., Bevel, J.P. and Caldwell, K.A. (2003) Suppression of polyglutamine-induced protein aggregation in Caenorhabditis elegans by torsin proteins. Hum. Mol. Genet., 12, 307-319.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 307-319
-
-
Caldwell, G.A.1
Cao, S.2
Sexton, E.G.3
Gelwix, C.C.4
Bevel, J.P.5
Caldwell, K.A.6
-
20
-
-
38649084391
-
Hypothesis-based RNAi screening identifies neuroprotective genes in a Parkinson's disease model
-
Hamamichi, S., Rivas, R.N., Knight, A.L., Cao, S., Caldwell, K.A. and Caldwell, G.A. (2008) Hypothesis-based RNAi screening identifies neuroprotective genes in a Parkinson's disease model. Proc. Natl Acad. Sci. USA, 105, 728-733.
-
(2008)
Proc. Natl Acad. Sci. USA
, vol.105
, pp. 728-733
-
-
Hamamichi, S.1
Rivas, R.N.2
Knight, A.L.3
Cao, S.4
Caldwell, K.A.5
Caldwell, G.A.6
-
21
-
-
39449138688
-
The pathophysiological basis of dystonias
-
Breakefield, X.O., Blood, A.J., Li, Y., Hallett, M., Hanson, P.I. and Standaert, D.G. (2008) The pathophysiological basis of dystonias. Nat. Rev. Neurosci., 9, 222-234.
-
(2008)
Nat. Rev. Neurosci.
, vol.9
, pp. 222-234
-
-
Breakefield, X.O.1
Blood, A.J.2
Li, Y.3
Hallett, M.4
Hanson, P.I.5
Standaert, D.G.6
-
22
-
-
0034724520
-
Functional and genomic analyses reveal an essential coordination between the unfolded protein response and ER-associated degradation
-
Travers, K.J., Patil, C.K., Wodicka, L., Lockhart, D.J., Weissman, J.S. and Walter, P. (2000) Functional and genomic analyses reveal an essential coordination between the unfolded protein response and ER-associated degradation. Cell, 101, 249-258.
-
(2000)
Cell
, vol.101
, pp. 249-258
-
-
Travers, K.J.1
Patil, C.K.2
Wodicka, L.3
Lockhart, D.J.4
Weissman, J.S.5
Walter, P.6
-
23
-
-
33745606008
-
Genetic interactions due to constitutive and inducible gene regulation mediated by the unfolded protein response in C. elegans
-
Shen, X., Ellis, R.E., Sakaki, K. and Kaufman, R.J. (2005) Genetic interactions due to constitutive and inducible gene regulation mediated by the unfolded protein response in C. elegans.. PLoS Genet., 1, e37.
-
(2005)
PLoS Genet.
, vol.1
-
-
Shen, X.1
Ellis, R.E.2
Sakaki, K.3
Kaufman, R.J.4
-
24
-
-
41749108854
-
Endoplasmic reticulum stress in disease pathogenesis
-
Lin, J.H., Walter, P. and Yen, T.S. (2008) Endoplasmic reticulum stress in disease pathogenesis. Annu. Rev. Pathol., 3, 399-425.
-
(2008)
Annu. Rev. Pathol.
, vol.3
, pp. 399-425
-
-
Lin, J.H.1
Walter, P.2
Yen, T.S.3
-
25
-
-
0037011917
-
IRE1 couples endoplasmic reticulum load to secretory capacity by processing the XBP-1 mRNA
-
Calfon, M., Zeng, H., Urano, F., Till, J.H., Hubbard, S.R., Harding, H.P., Clark, S.G. and Ron, D. (2002) IRE1 couples endoplasmic reticulum load to secretory capacity by processing the XBP-1 mRNA. Nature, 415,92-96.
-
(2002)
Nature
, vol.415
, pp. 92-96
-
-
Calfon, M.1
Zeng, H.2
Urano, F.3
Till, J.H.4
Hubbard, S.R.5
Harding, H.P.6
Clark, S.G.7
Ron, D.8
-
26
-
-
17644392138
-
Torsin-mediated neuroprotection from cellular stresses to dopaminergic neurons of C. elegans
-
Cao, S., Gelwix, C.C., Caldwell, K.A. and Caldwell, G.A. (2005) Torsin-mediated neuroprotection from cellular stresses to dopaminergic neurons of C. elegans. J. Neurosci., 25, 3801-3812.
-
(2005)
J. Neurosci.
, vol.25
, pp. 3801-3812
-
-
Cao, S.1
Gelwix, C.C.2
Caldwell, K.A.3
Caldwell, G.A.4
-
27
-
-
18244405070
-
Complementary signaling pathways regulate the unfolded protein response and are required for C. elegans development
-
Shen, X., Ellis, R.E., Lee, K., Liu, C.-Y., Yang, K., Solomon, A., Kurnit, D.M., Mori, K. and Kaufman, R.J. (2001) Complementary signaling pathways regulate the unfolded protein response and are required for C. elegans development. Cell, 107, 893-903.
-
(2001)
Cell
, vol.107
, pp. 893-903
-
-
Shen, X.1
Ellis, R.E.2
Lee, K.3
Liu, C.-Y.4
Yang, K.5
Solomon, A.6
Kurnit, D.M.7
Mori, K.8
Kaufman, R.J.9
-
28
-
-
55449127739
-
Activation of the unfolded protein response is required for defenses against bacterial pore-forming toxin in vivo
-
Bischof, L.J., Kao, C.-Y., Los, F.C.O., Gonzalez, M.R., Shen, Z., Briggs, S.P., van der Goot, F.G. and Aroian, R.V. (2008) Activation of the unfolded protein response is required for defenses against bacterial pore-forming toxin in vivo. PLoS Pathog., 4, e1000176.
-
(2008)
PLoS Pathog.
, vol.4
-
-
Bischof, L.J.1
Kao, C.-Y.2
Los, F.C.O.3
Gonzalez, M.R.4
Shen, Z.5
Briggs, S.P.6
van der Goot, F.G.7
Aroian, R.V.8
-
29
-
-
77955710947
-
The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitro
-
Epub ahead of print (19 Feb 2010), doi:10.1007/s12192-010-0173-2
-
Burdette, A.J., Churchill, P.F., Caldwell, G.A. and Caldwell, K.A. (2010) The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitro. Cell Stress Chaperones. Epub ahead of print (19 Feb 2010), doi:10.1007/s12192-010-0173-2.
-
(2010)
Cell Stress Chaperones
-
-
Burdette, A.J.1
Churchill, P.F.2
Caldwell, G.A.3
Caldwell, K.A.4
-
30
-
-
0042326841
-
Characterization of human torsinA and its dystonia-associated mutant form
-
Liu, Z., Zolkiewska, A. and Zolkiewski, M. (2003) Characterization of human torsinA and its dystonia-associated mutant form. Biochem. J., 374, 117-122.
-
(2003)
Biochem. J.
, vol.374
, pp. 117-122
-
-
Liu, Z.1
Zolkiewska, A.2
Zolkiewski, M.3
-
31
-
-
8144230422
-
Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant
-
Torres, G.E., Sweeney, A.L., Beaulieu, J.M., Shashidharan, P. and Caron, M.G. (2004) Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant. Proc. Natl Acad. Sci. USA, 101, 15650-15655.
-
(2004)
Proc. Natl Acad. Sci. USA
, vol.101
, pp. 15650-15655
-
-
Torres, G.E.1
Sweeney, A.L.2
Beaulieu, J.M.3
Shashidharan, P.4
Caron, M.G.5
-
32
-
-
34250872219
-
Intragenic cis and trans modification of genetic susceptibility in DYT1 torsion dystonia
-
Risch, N.J., Bressman, S.B., Senthil, G. and Ozelius, L.J. (2007) Intragenic cis and trans modification of genetic susceptibility in DYT1 torsion dystonia. Am. J. Hum. Genet., 80, 1188-1193.
-
(2007)
Am. J. Hum. Genet.
, vol.80
, pp. 1188-1193
-
-
Risch, N.J.1
Bressman, S.B.2
Senthil, G.3
Ozelius, L.J.4
-
33
-
-
33645814863
-
Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier
-
Kock, N., Naismith, T.V., Boston, H.E., Ozelius, L.J., Corey, D.P., Breakefield, X.O. and Hanson, P.I. (2006) Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier. Hum. Mol. Genet., 15, 1355-1364.
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 1355-1364
-
-
Kock, N.1
Naismith, T.V.2
Boston, H.E.3
Ozelius, L.J.4
Corey, D.P.5
Breakefield, X.O.6
Hanson, P.I.7
-
34
-
-
0041703031
-
The function of GADD34 is a recovery from a shutoff of protein synthesis induced by ER stress: elucidation by GADD34-deficient mice
-
Kojima, E., Takeuchi, A., Haneda, M., Yagi, A., Hasegawa, T., Yamaki, K., Takeda, K., Akira, S., Shimokata, K. and Isobe, K. (2003) The function of GADD34 is a recovery from a shutoff of protein synthesis induced by ER stress: elucidation by GADD34-deficient mice. FASEB J., 11, 1573-1575.
-
(2003)
FASEB J.
, vol.11
, pp. 1573-1575
-
-
Kojima, E.1
Takeuchi, A.2
Haneda, M.3
Yagi, A.4
Hasegawa, T.5
Yamaki, K.6
Takeda, K.7
Akira, S.8
Shimokata, K.9
Isobe, K.10
-
35
-
-
0037445915
-
TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stress
-
Hewett, J., Ziefer, P., Bergeron, D., Naismith, T., Boston, H., Slater, D., Wilbur, J., Schuback, D., Kamm, C., Smith, N. et al. (2003) TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stress. J. Neurosci. Res., 72, 158-168.
-
(2003)
J. Neurosci. Res.
, vol.72
, pp. 158-168
-
-
Hewett, J.1
Ziefer, P.2
Bergeron, D.3
Naismith, T.4
Boston, H.5
Slater, D.6
Wilbur, J.7
Schuback, D.8
Kamm, C.9
Smith, N.10
-
36
-
-
0347284276
-
TorsinA, the gene linked to early-onset dystonia, is upregulated by the dopaminergic toxin MPTP in mice
-
Kuner, R., Teismann, P., Trutzel, A., Naim, J., Richter, A., Schmidt, N., Bach, A., Ferger, B. and Schneider, A. (2004) TorsinA, the gene linked to early-onset dystonia, is upregulated by the dopaminergic toxin MPTP in mice. Neurosci. Lett., 355, 126-130.
-
(2004)
Neurosci. Lett.
, vol.355
, pp. 126-130
-
-
Kuner, R.1
Teismann, P.2
Trutzel, A.3
Naim, J.4
Richter, A.5
Schmidt, N.6
Bach, A.7
Ferger, B.8
Schneider, A.9
-
37
-
-
1042289634
-
Overexpression of torsinA in PC12 cells protects against toxicity
-
Shashidharan, P., Paris, N., Sandu, D., Karthikeyanm, L., McNaught, K.S., Walker, R.H. and Olanow, C.W. (2004) Overexpression of torsinA in PC12 cells protects against toxicity. J. Neurochem., 88, 1019-1025.
-
(2004)
J. Neurochem.
, vol.88
, pp. 1019-1025
-
-
Shashidharan, P.1
Paris, N.2
Sandu, D.3
Karthikeyanm, L.4
McNaught, K.S.5
Walker, R.H.6
Olanow, C.W.7
-
38
-
-
1942489014
-
Perinuclear biogenesis of mutant torsin-A inclusions in cultured cells infected with tetracycline-regulated herpes simplex virus type 1 amplicon vectors
-
Bragg, D.C., Camp, S.M., Kaufman, C.A., Wilbur, J.D., Boston, H., Schuback, D.E., Hanson, P.I., Sena-Esteves, M. and Breakefield, X.O. (2004) Perinuclear biogenesis of mutant torsin-A inclusions in cultured cells infected with tetracycline-regulated herpes simplex virus type 1 amplicon vectors. Neuroscience, 125, 651-661.
-
(2004)
Neuroscience
, vol.125
, pp. 651-661
-
-
Bragg, D.C.1
Camp, S.M.2
Kaufman, C.A.3
Wilbur, J.D.4
Boston, H.5
Schuback, D.E.6
Hanson, P.I.7
Sena-Esteves, M.8
Breakefield, X.O.9
-
39
-
-
66349137319
-
LULL1 retargets torsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation
-
Vander Heyden, A.B., Naismith, T.V., Snapp, E.L., Hodzic, D. and Hanson, P.I. (2009) LULL1 retargets torsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation. Mol. Biol. Cell, 20, 2661-2672.
-
(2009)
Mol. Biol. Cell
, vol.20
, pp. 2661-2672
-
-
Vander Heyden, A.B.1
Naismith, T.V.2
Snapp, E.L.3
Hodzic, D.4
Hanson, P.I.5
-
40
-
-
49649120229
-
Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type specific mislocalization to the nuclear envelope
-
Giles, L.M., Chen, J., Li, L. and Chin, S. (2008) Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type specific mislocalization to the nuclear envelope. Hum. Mol. Genet., 17, 2712-2722.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 2712-2722
-
-
Giles, L.M.1
Chen, J.2
Li, L.3
Chin, S.4
-
41
-
-
56049091231
-
Consequences of the DYT1 mutation on torsinA oligomerization and degradation
-
Gordon, K.L. and Gonzalez-Alegre, P. (2008) Consequences of the DYT1 mutation on torsinA oligomerization and degradation. Neuroscience, 157, 588-595.
-
(2008)
Neuroscience
, vol.157
, pp. 588-595
-
-
Gordon, K.L.1
Gonzalez-Alegre, P.2
-
42
-
-
34447641630
-
Overexpression of human wild-type torsinA and human DeltaGAG torsinA in a transgenic mouse model causes phenotypic abnormalities
-
Grundmann, K., Reischmann, B., Vanhoutte, G., Hubner, J., Teismann, P., Hauser, T.K., Bonin, M., Wilbertz, J., Horn, S., Nguyen, H.P. et al. (2007) Overexpression of human wild-type torsinA and human DeltaGAG torsinA in a transgenic mouse model causes phenotypic abnormalities. Neurobiol. Dis., 27, 190-206.
-
(2007)
Neurobiol. Dis.
, vol.27
, pp. 190-206
-
-
Grundmann, K.1
Reischmann, B.2
Vanhoutte, G.3
Hubner, J.4
Teismann, P.5
Hauser, T.K.6
Bonin, M.7
Wilbertz, J.8
Horn, S.9
Nguyen, H.P.10
-
43
-
-
33847322639
-
SGCE missense mutations that cause myoclonus-dystonia syndrome impair episolon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA
-
Esapa, C.T., Waite, A., Locke, M., Benson, M.A., Kraus, M., McIlhinney, R.A., Sillitoe, R.V., Beesley, P.W. and Blake, D.J. (2007) SGCE missense mutations that cause myoclonus-dystonia syndrome impair episolon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA. Hum. Mol. Genet., 16, 327-342.
-
(2007)
Hum. Mol. Genet.
, vol.16
, pp. 327-342
-
-
Esapa, C.T.1
Waite, A.2
Locke, M.3
Benson, M.A.4
Kraus, M.5
McIlhinney, R.A.6
Sillitoe, R.V.7
Beesley, P.W.8
Blake, D.J.9
-
44
-
-
17944378309
-
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome
-
Zimprich, A., Grabowski, M., Asmus, F., Naumann, M., Berg, D., Bertram, M., Scheidtmann, K., Kern, P., Winkelmann, J., Müller-Myhsok, B. et al. (2001) Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat. Genet., 29, 66-69.
-
(2001)
Nat. Genet.
, vol.29
, pp. 66-69
-
-
Zimprich, A.1
Grabowski, M.2
Asmus, F.3
Naumann, M.4
Berg, D.5
Bertram, M.6
Scheidtmann, K.7
Kern, P.8
Winkelmann, J.9
Müller-Myhsok, B.10
-
45
-
-
64949099855
-
Protein homeostasis and aging: taking care of proteins from the cradle to the grave
-
Morimoto, R.I. and Cuervo, A.M. (2009) Protein homeostasis and aging: taking care of proteins from the cradle to the grave. J. Gerontol. A. Biol. Sci. Med. Sci., 64A, 167-170.
-
(2009)
J. Gerontol. A. Biol. Sci. Med. Sci.
, vol.64 A
, pp. 167-170
-
-
Morimoto, R.I.1
Cuervo, A.M.2
-
46
-
-
51449098355
-
Reduced translocation of nascent prion protein during ER stress contributes to neurodegeneration
-
Rane, N.S., Kang, S.W., Chakrabarti, O., Feigenbaum, L. and Hegde, R.S. (2008) Reduced translocation of nascent prion protein during ER stress contributes to neurodegeneration. Dev. Cell, 15, 359-370.
-
(2008)
Dev. Cell
, vol.15
, pp. 359-370
-
-
Rane, N.S.1
Kang, S.W.2
Chakrabarti, O.3
Feigenbaum, L.4
Hegde, R.S.5
-
47
-
-
33750818947
-
Down-regulation of torp4a, encoding the Drosophila homologue of torsinA, results in increased neuronal degeneration
-
Muraro, N.I. and Moffat, K.G. (2006) Down-regulation of torp4a, encoding the Drosophila homologue of torsinA, results in increased neuronal degeneration. J. Neurobiol., 12, 1338-1353.
-
(2006)
J. Neurobiol.
, vol.12
, pp. 1338-1353
-
-
Muraro, N.I.1
Moffat, K.G.2
-
48
-
-
33751333201
-
Substrate-specific translocation attenuation during ER stress defines a pre-emptive quality control pathway
-
Kang, S.W., Rane, N.S., Kim, S.J., Garrison, J.L., Taunton, J. and Hegde, R.S. (2006) Substrate-specific translocation attenuation during ER stress defines a pre-emptive quality control pathway. Cell, 127, 999-1013.
-
(2006)
Cell
, vol.127
, pp. 999-1013
-
-
Kang, S.W.1
Rane, N.S.2
Kim, S.J.3
Garrison, J.L.4
Taunton, J.5
Hegde, R.S.6
-
49
-
-
0142072117
-
Development and anatomic localization of torsinA
-
Oberlin, S.R., Konakova, M., Pulst, S. and Chesselet, M.F. (2004) Development and anatomic localization of torsinA. Adv. Neurol., 94, 61-65.
-
(2004)
Adv. Neurol.
, vol.94
, pp. 61-65
-
-
Oberlin, S.R.1
Konakova, M.2
Pulst, S.3
Chesselet, M.F.4
-
50
-
-
3343026533
-
Developmental expression of rat torsinA transcript and protein
-
Xiao, J., Gong, S., Zhao, Y. and LeDoux, M.S. (2004) Developmental expression of rat torsinA transcript and protein. Brain Res. Dev. Brain Res., 152, 47-60.
-
(2004)
Brain Res. Dev. Brain Res.
, vol.152
, pp. 47-60
-
-
Xiao, J.1
Gong, S.2
Zhao, Y.3
LeDoux, M.S.4
-
51
-
-
33644963223
-
Developmental patterns of torsinA and torsinB expression
-
139-145
-
Vasudevan, A., Breakefield, X.O. and Bhide, B. (2006) Developmental patterns of torsinA and torsinB expression. Brain Res., 1073-1074, 139-145.
-
(2006)
Brain Res.
, pp. 1073-1074
-
-
Vasudevan, A.1
Breakefield, X.O.2
Bhide, B.3
-
52
-
-
39349083915
-
Adapting proteostasis for disease intervention
-
Balch, W.E., Morimoto, R.I., Dillin, A. and Kelly, J.W. (2008) Adapting proteostasis for disease intervention. Science, 319, 916-919.
-
(2008)
Science
, vol.319
, pp. 916-919
-
-
Balch, W.E.1
Morimoto, R.I.2
Dillin, A.3
Kelly, J.W.4
-
53
-
-
44849094781
-
Proteotoxic stress and inducible chaperone networks in neurodegenerative disease and aging
-
Morimoto, R.I. (2008) Proteotoxic stress and inducible chaperone networks in neurodegenerative disease and aging. Genes Dev., 22, 1427-1438.
-
(2008)
Genes Dev.
, vol.22
, pp. 1427-1438
-
-
Morimoto, R.I.1
-
54
-
-
67349164383
-
A role for motorneuron subtype-selective ER stress in disease manifestations of FALS mice
-
Saxena, S., Cabuy, E. and Caroni, P. (2009) A role for motorneuron subtype-selective ER stress in disease manifestations of FALS mice. Nat. Neurosci., 12, 627-636.
-
(2009)
Nat. Neurosci.
, vol.12
, pp. 627-636
-
-
Saxena, S.1
Cabuy, E.2
Caroni, P.3
-
55
-
-
77952136512
-
Chemical enhancement of torsinA function in animal models of torsion dystonia
-
Cao, S., Hewett, J.S., Fumiaki, Y., Lu, J., Clark Buckley, A., Burdette, A.J., Chen, P., Nery, F.C., Li, Y., Breakefield, X.O. et al. (2010) Chemical enhancement of torsinA function in animal models of torsion dystonia. Dis. Model. Mech., 3, 386-396.
-
(2010)
Dis. Model. Mech.
, vol.3
, pp. 386-396
-
-
Cao, S.1
Hewett, J.S.2
Fumiaki, Y.3
Lu, J.4
Clark Buckley, A.5
Burdette, A.J.6
Chen, P.7
Nery, F.C.8
Li, Y.9
Breakefield, X.O.10
-
56
-
-
0026431968
-
Spatial control of gut-specific gene expression during Caenorhabditis elegans development
-
Aamodt, E.J., Chung, M.A. and McGhee, J.D. (1991) Spatial control of gut-specific gene expression during Caenorhabditis elegans development. Science, 252, 579-582.
-
(1991)
Science
, vol.252
, pp. 579-582
-
-
Aamodt, E.J.1
Chung, M.A.2
McGhee, J.D.3
-
57
-
-
0016063911
-
The genetics of Caenorhabditis elegans
-
Brenner, S. (1974) The genetics of Caenorhabditis elegans. Genetics, 77, 71-94.
-
(1974)
Genetics
, vol.77
, pp. 71-94
-
-
Brenner, S.1
-
58
-
-
0025942107
-
Efficient gene transfer in C. elegans: extrachromosomal maintenance and integration of transforming sequences
-
Mello, C.C., Kramer, J.M., Stinchcomb, D. and Ambros, V. (1991) Efficient gene transfer in C. elegans: extrachromosomal maintenance and integration of transforming sequences. EMBO J., 10, 3959-3970.
-
(1991)
EMBO J.
, vol.10
, pp. 3959-3970
-
-
Mello, C.C.1
Kramer, J.M.2
Stinchcomb, D.3
Ambros, V.4
-
59
-
-
33750481486
-
Genetic interactions among cortical malformation genes that influence susceptibility to convulsions in C. elegans
-
Locke, C.J., Williams, S.N., Schwarz, E.M., Caldwell, G.A. and Caldwell, K.A. (2006) Genetic interactions among cortical malformation genes that influence susceptibility to convulsions in C. elegans. Brain Res., 1120, 23-34.
-
(2006)
Brain Res.
, vol.1120
, pp. 23-34
-
-
Locke, C.J.1
Williams, S.N.2
Schwarz, E.M.3
Caldwell, G.A.4
Caldwell, K.A.5
-
60
-
-
27744567561
-
Generation and characterization of Dyt1 deltaGAG knock-in mouse as a model for early-onset dystonia
-
Dang, M.T., Yokoi, F., McNaught, K.S., Jangelley, T.A., Jackson, T., Li, J. and Li, Y. (2005) Generation and characterization of Dyt1 deltaGAG knock-in mouse as a model for early-onset dystonia. Exp. Neurol., 196, 452-463.
-
(2005)
Exp. Neurol.
, vol.196
, pp. 452-463
-
-
Dang, M.T.1
Yokoi, F.2
McNaught, K.S.3
Jangelley, T.A.4
Jackson, T.5
Li, J.6
Li, Y.7
-
61
-
-
33645078104
-
Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics
-
Hewett, J.W., Zeng, J., Niland, B.P., Bragg, D.C. and Breakefield, X.O. (2006) Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics. Neurobiol. Dis., 22, 98-111.
-
(2006)
Neurobiol. Dis.
, vol.22
, pp. 98-111
-
-
Hewett, J.W.1
Zeng, J.2
Niland, B.P.3
Bragg, D.C.4
Breakefield, X.O.5
|