-
1
-
-
33745208220
-
Protein homeostasis in neurons and its pathological alterations
-
Malgaroli, A., Vallar, L. & Zimarino, V. Protein homeostasis in neurons and its pathological alterations. Curr. Opin. Neurobiol. 16, 270-274 (2006).
-
(2006)
Curr. Opin. Neurobiol.
, vol.16
, pp. 270-274
-
-
Malgaroli, A.1
Vallar, L.2
Zimarino, V.3
-
2
-
-
0037077040
-
Toxic proteins in neurodegenerative disease
-
Taylor, J.P., Hardy, J. & Fischbeck, K.H. Toxic proteins in neurodegenerative disease. Science 296, 1991-1995 (2002).
-
(2002)
Science
, vol.296
, pp. 1991-1995
-
-
Taylor, J.P.1
Hardy, J.2
Fischbeck, K.H.3
-
3
-
-
37649005234
-
Autophagy in the pathogenesis of disease
-
Levine, B. & Kroemer, G. Autophagy in the pathogenesis of disease. Cell 132, 27-42 (2008).
-
(2008)
Cell
, vol.132
, pp. 27-42
-
-
Levine, B.1
Kroemer, G.2
-
4
-
-
33745192802
-
Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice
-
Hara, T. et al. Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice. Nature 441, 885-889 (2006).
-
(2006)
Nature
, vol.441
, pp. 885-889
-
-
Hara, T.1
-
5
-
-
33646800306
-
Loss of autophagy in the central nervous system causes neurodegeneration in mice
-
Komatsu, M. et al. Loss of autophagy in the central nervous system causes neurodegeneration in mice. Nature 441, 880-884 (2006).
-
(2006)
Nature
, vol.441
, pp. 880-884
-
-
Komatsu, M.1
-
6
-
-
35448938087
-
Essential role for autophagy protein Atg7 in the maintenance of axonal homeostasis and the prevention of axonal degeneration
-
Komatsu, M. et al. Essential role for autophagy protein Atg7 in the maintenance of axonal homeostasis and the prevention of axonal degeneration. Proc. Natl. Acad. Sci. USA 104, 14489-14494 (2007).
-
(2007)
Proc. Natl. Acad. Sci. USA
, vol.104
, pp. 14489-14494
-
-
Komatsu, M.1
-
7
-
-
2642586352
-
Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease
-
Ravikumar, B. et al. Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease. Nat. Genet. 36, 585-595 (2004).
-
(2004)
Nat. Genet.
, vol.36
, pp. 585-595
-
-
Ravikumar, B.1
-
8
-
-
8344242220
-
Autophagy in health and disease: A double-edged sword
-
Shintani, T. & Klionsky, D.J. Autophagy in health and disease: a double-edged sword. Science 306, 990-995 (2004).
-
(2004)
Science
, vol.306
, pp. 990-995
-
-
Shintani, T.1
Klionsky, D.J.2
-
9
-
-
35448981935
-
Autophagy: From phenomenology to molecular understanding in less than a decade
-
Klionsky, D.J. Autophagy: from phenomenology to molecular understanding in less than a decade. Nat. Rev. Mol. Cell Biol. 8, 931-937 (2007).
-
(2007)
Nat. Rev. Mol. Cell Biol.
, vol.8
, pp. 931-937
-
-
Klionsky, D.J.1
-
10
-
-
34250183177
-
HDAC6 rescues neurodegeneration and provides an essential link between autophagy and the UPS
-
Pandey, U.B. et al. HDAC6 rescues neurodegeneration and provides an essential link between autophagy and the UPS. Nature 447, 859-863 (2007).
-
(2007)
Nature
, vol.447
, pp. 859-863
-
-
Pandey, U.B.1
-
11
-
-
1542283812
-
In vivo analysis of autophagy in response to nutrient starvation using transgenic mice expressing a fluorescent autophagosome marker
-
Mizushima, N., Yamamoto, A., Matsui, M., Yoshimori, T. & Ohsumi, Y. In vivo analysis of autophagy in response to nutrient starvation using transgenic mice expressing a fluorescent autophagosome marker. Mol. Biol. Cell 15, 1101-1111 (2004).
-
(2004)
Mol. Biol. Cell
, vol.15
, pp. 1101-1111
-
-
Mizushima, N.1
Yamamoto, A.2
Matsui, M.3
Yoshimori, T.4
Ohsumi, Y.5
-
12
-
-
49049096562
-
Autophagy induction and autophagosome clearance in neurons: Relationship to autophagic pathology in Alzheimer's disease
-
Boland, B. et al. Autophagy induction and autophagosome clearance in neurons: relationship to autophagic pathology in Alzheimer's disease. J. Neurosci. 28, 6926-6937 (2008).
-
(2008)
J. Neurosci.
, vol.28
, pp. 6926-6937
-
-
Boland, B.1
-
13
-
-
14844303381
-
Extensive involvement of autophagy in Alzheimer disease: An immunoelectron microscopy study
-
Nixon, R.A. et al. Extensive involvement of autophagy in Alzheimer disease: an immunoelectron microscopy study. J. Neuropathol. Exp. Neurol. 64, 113-122 (2005).
-
(2005)
J. Neuropathol. Exp. Neurol.
, vol.64
, pp. 113-122
-
-
Nixon, R.A.1
-
14
-
-
77954116814
-
Autophagy gone awry in neurodegenerative diseases
-
Wong, E. & Cuervo, A.M. Autophagy gone awry in neurodegenerative diseases. Nat. Neurosci. 13, 805-811 (2010).
-
(2010)
Nat. Neurosci.
, vol.13
, pp. 805-811
-
-
Wong, E.1
Cuervo, A.M.2
-
15
-
-
67749122634
-
A gene network regulating lysosomal biogenesis and function
-
Sardiello, M. et al. A gene network regulating lysosomal biogenesis and function. Science 325, 473-477 (2009).
-
(2009)
Science
, vol.325
, pp. 473-477
-
-
Sardiello, M.1
-
16
-
-
80955177196
-
TFEB links autophagy to lysosomal biogenesis
-
Settembre, C. et al. TFEB links autophagy to lysosomal biogenesis. Science 332, 1429-1433 (2011).
-
(2011)
Science
, vol.332
, pp. 1429-1433
-
-
Settembre, C.1
-
17
-
-
84863923855
-
PGC-1alpha rescues huntington's disease proteotoxicity by preventing oxidative stress and promoting TFEB function
-
Tsunemi, T. et al. PGC-1alpha rescues huntington's disease proteotoxicity by preventing oxidative stress and promoting TFEB function. Sci. Transl. Med. 4, 142ra197 (2012).
-
(2012)
Sci. Transl. Med.
, vol.4
-
-
Tsunemi, T.1
-
18
-
-
84877351078
-
TFEB-mediated autophagy rescues midbrain dopamine neurons from alpha-synuclein toxicity
-
Decressac, M. et al. TFEB-mediated autophagy rescues midbrain dopamine neurons from alpha-synuclein toxicity. Proc. Natl. Acad. Sci. USA 110, E1817-E1826 (2013).
-
(2013)
Proc. Natl. Acad. Sci. USA
, vol.110
, pp. E1817-E1826
-
-
Decressac, M.1
-
19
-
-
18544389189
-
A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length
-
Dejager, S. et al. A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length. J. Clin. Endocrinol. Metab. 87, 3893-3901 (2002).
-
(2002)
J. Clin. Endocrinol. Metab.
, vol.87
, pp. 3893-3901
-
-
Dejager, S.1
-
20
-
-
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. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352, 77-79 (1991).
-
(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
-
21
-
-
77949775195
-
Repeat expansion disease: Progress and puzzles in disease pathogenesis
-
La Spada, A.R. & Taylor, J.P. Repeat expansion disease: progress and puzzles in disease pathogenesis. Nat. Rev. Genet. 11, 247-258 (2010).
-
(2010)
Nat. Rev. Genet.
, vol.11
, pp. 247-258
-
-
La Spada, A.R.1
Taylor, J.P.2
-
22
-
-
46949094457
-
Androgen receptor function in motor neuron survival and degeneration
-
Cary, G.A. & La Spada, A.R. Androgen receptor function in motor neuron survival and degeneration. Phys. Med. Rehabil. Clin. N. Am. 19, 479-494 viii (2008).
-
(2008)
Phys. Med. Rehabil. Clin. N. Am.
, vol.19
-
-
Cary, G.A.1
La Spada, A.R.2
-
23
-
-
33745592187
-
Loss of endogenous androgen receptor protein accelerates motor neuron degeneration and accentuates androgen insensitivity in a mouse model of X-linked spinal and bulbar muscular atrophy
-
Thomas, P.S. Jr. et al. Loss of endogenous androgen receptor protein accelerates motor neuron degeneration and accentuates androgen insensitivity in a mouse model of X-linked spinal and bulbar muscular atrophy. Hum. Mol. Genet. 15, 2225-2238 (2006).
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 2225-2238
-
-
Thomas, P.S.1
-
24
-
-
84862295360
-
Guidelines for the use and interpretation of assays for monitoring autophagy
-
Klionsky, D.J. et al. Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy 8, 445-544 (2012).
-
(2012)
Autophagy
, vol.8
, pp. 445-544
-
-
Klionsky, D.J.1
-
25
-
-
12144286872
-
Androgen receptor YAC transgenic mice recapitulate SBMA motor neuronopathy and implicate VEGF164 in the motor neuron degeneration
-
Sopher, B.L. et al. Androgen receptor YAC transgenic mice recapitulate SBMA motor neuronopathy and implicate VEGF164 in the motor neuron degeneration. Neuron 41, 687-699 (2004).
-
(2004)
Neuron
, vol.41
, pp. 687-699
-
-
Sopher, B.L.1
-
26
-
-
84894051822
-
Transcriptional activation of TFEB/ZKSCAN3 target genes underlies enhanced autophagy in spinobulbar muscular atrophy
-
Chua, J.P. et al. Transcriptional activation of TFEB/ZKSCAN3 target genes underlies enhanced autophagy in spinobulbar muscular atrophy. Hum. Mol. Genet. 23, 1376-1386 (2014).
-
(2014)
Hum. Mol. Genet.
, vol.23
, pp. 1376-1386
-
-
Chua, J.P.1
-
27
-
-
84864874958
-
MTORC1 functions as a transcriptional regulator of autophagy by preventing nuclear transport of TFEB
-
Martina, J.A., Chen, Y., Gucek, M. & Puertollano, R. MTORC1 functions as a transcriptional regulator of autophagy by preventing nuclear transport of TFEB. Autophagy 8, 903-914 (2012).
-
(2012)
Autophagy
, vol.8
, pp. 903-914
-
-
Martina, J.A.1
Chen, Y.2
Gucek, M.3
Puertollano, R.4
-
28
-
-
33747195353
-
Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors
-
Takahashi, K. & Yamanaka, S. Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell 126, 663-676 (2006).
-
(2006)
Cell
, vol.126
, pp. 663-676
-
-
Takahashi, K.1
Yamanaka, S.2
-
29
-
-
78149488365
-
A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells
-
Marchetto, M.C. et al. A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells. Cell 143, 527-539 (2010).
-
(2010)
Cell
, vol.143
, pp. 527-539
-
-
Marchetto, M.C.1
-
30
-
-
57649207936
-
Mitochondrial abnormalities in spinal and bulbar muscular atrophy
-
Ranganathan, S. et al. Mitochondrial abnormalities in spinal and bulbar muscular atrophy. Hum. Mol. Genet. 18, 27-42 (2009).
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 27-42
-
-
Ranganathan, S.1
-
31
-
-
79551665440
-
A functionally characterized test set of human induced pluripotent stem cells
-
Boulting, G.L. et al. A functionally characterized test set of human induced pluripotent stem cells. Nat. Biotechnol. 29, 279-286 (2011).
-
(2011)
Nat. Biotechnol.
, vol.29
, pp. 279-286
-
-
Boulting, G.L.1
-
32
-
-
0037101834
-
Altered transcriptional regulation in cells expressing the expanded polyglutamine androgen receptor
-
Lieberman, A.P., Harmison, G., Strand, A.D., Olson, J.M. & Fischbeck, K.H. Altered transcriptional regulation in cells expressing the expanded polyglutamine androgen receptor. Hum. Mol. Genet. 11, 1967-1976 (2002).
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 1967-1976
-
-
Lieberman, A.P.1
Harmison, G.2
Strand, A.D.3
Olson, J.M.4
Fischbeck, K.H.5
-
33
-
-
0034285017
-
CREB-binding protein sequestration by expanded polyglutamine
-
McCampbell, A. et al. CREB-binding protein sequestration by expanded polyglutamine. Hum. Mol. Genet. 9, 2197-2202 (2000).
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2197-2202
-
-
McCampbell, A.1
-
34
-
-
12844268574
-
Sumoylation of MITF and its related family members TFE3 and TFEB
-
Miller, A.J., Levy, C., Davis, I.J., Razin, E. & Fisher, D.E. Sumoylation of MITF and its related family members TFE3 and TFEB. J. Biol. Chem. 280, 146-155 (2005).
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 146-155
-
-
Miller, A.J.1
Levy, C.2
Davis, I.J.3
Razin, E.4
Fisher, D.E.5
-
35
-
-
0033601249
-
Activation function 2 2 in the human androgen receptor ligand binding domain mediates interdomain communication with the NH2 -terminal domain
-
He, B., Kemppainen, J.A., Voegel, J.J., Gronemeyer, H. & Wilson, E.M. Activation function 2 2 in the human androgen receptor ligand binding domain mediates interdomain communication with the NH2 -terminal domain. J. Biol. Chem. 274, 37219-37225 (1999).
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 37219-37225
-
-
He, B.1
Kemppainen, J.A.2
Voegel, J.J.3
Gronemeyer, H.4
Wilson, E.M.5
-
36
-
-
33845657872
-
ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology
-
Lam, Y.C. et al. ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology. Cell 127, 1335-1347 (2006).
-
(2006)
Cell
, vol.127
, pp. 1335-1347
-
-
Lam, Y.C.1
-
37
-
-
77957011660
-
Native functions of the androgen receptor are essential to pathogenesis in a Drosophila model of spinobulbar muscular atrophy
-
Nedelsky, N.B. et al. Native functions of the androgen receptor are essential to pathogenesis in a Drosophila model of spinobulbar muscular atrophy. Neuron 67, 936-952 (2010).
-
(2010)
Neuron
, vol.67
, pp. 936-952
-
-
Nedelsky, N.B.1
-
38
-
-
60849095522
-
Polyglutamine-expanded androgen receptor truncation fragments activate a Bax-dependent apoptotic cascade mediated by DP5/Hrk
-
Young, J.E. et al. Polyglutamine-expanded androgen receptor truncation fragments activate a Bax-dependent apoptotic cascade mediated by DP5/Hrk. J. Neurosci. 29, 1987-1997 (2009).
-
(2009)
J. Neurosci.
, vol.29
, pp. 1987-1997
-
-
Young, J.E.1
-
39
-
-
84877139577
-
p62/SQSTM1 differentially removes the toxic mutant androgen receptor via autophagy and inclusion formation in a spinal and bulbar muscular atrophy mouse model
-
Doi, H. et al. p62/SQSTM1 differentially removes the toxic mutant androgen receptor via autophagy and inclusion formation in a spinal and bulbar muscular atrophy mouse model. J. Neurosci. 33, 7710-7727 (2013).
-
(2013)
J. Neurosci.
, vol.33
, pp. 7710-7727
-
-
Doi, H.1
-
40
-
-
84872094183
-
Cellular and molecular mechanisms of muscle atrophy
-
Bonaldo, P. & Sandri, M. Cellular and molecular mechanisms of muscle atrophy. Dis. Model. Mech. 6, 25-39 (2013).
-
(2013)
Dis. Model. Mech.
, vol.6
, pp. 25-39
-
-
Bonaldo, P.1
Sandri, M.2
-
41
-
-
84898685176
-
Muscle expression of mutant androgen receptor accounts for systemic and motor neuron disease phenotypes in spinal and bulbar muscular atrophy
-
Cortes, C.J. et al. Muscle expression of mutant androgen receptor accounts for systemic and motor neuron disease phenotypes in spinal and bulbar muscular atrophy. Neuron 82, 295-307 (2014).
-
(2014)
Neuron
, vol.82
, pp. 295-307
-
-
Cortes, C.J.1
-
42
-
-
80155144126
-
Induced pluripotent stem cells (iPSCs) and neurological disease modeling: Progress and promises
-
Marchetto, M.C., Brennand, K.J., Boyer, L.F. & Gage, F.H. Induced pluripotent stem cells (iPSCs) and neurological disease modeling: progress and promises. Hum. Mol. Genet. 20, R109-R115 (2011).
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. R109-R115
-
-
Marchetto, M.C.1
Brennand, K.J.2
Boyer, L.F.3
Gage, F.H.4
-
43
-
-
84864628471
-
Induced pluripotent stem cells from patients with Huntington's disease show CAG-repeat-expansion-associated phenotypes
-
HD iPSC Consortium. Induced pluripotent stem cells from patients with Huntington's disease show CAG-repeat-expansion-associated phenotypes. Cell Stem Cell 11, 264-278 (2012).
-
(2012)
Cell Stem Cell
, vol.11
, pp. 264-278
-
-
-
44
-
-
84875464498
-
Enhanced aggregation of androgen receptor in induced pluripotent stem cell-derived neurons from spinal and bulbar muscular atrophy
-
Nihei, Y. et al. Enhanced aggregation of androgen receptor in induced pluripotent stem cell-derived neurons from spinal and bulbar muscular atrophy. J. Biol. Chem. 288, 8043-8052 (2013).
-
(2013)
J. Biol. Chem.
, vol.288
, pp. 8043-8052
-
-
Nihei, Y.1
-
45
-
-
84860510280
-
Disease-specific phenotypes in dopamine neurons from human iPS-based models of genetic and sporadic Parkinson's disease
-
Sánchez-Danes, A. et al. Disease-specific phenotypes in dopamine neurons from human iPS-based models of genetic and sporadic Parkinson's disease. EMBO Mol. Med. 4, 380-395 (2012).
-
(2012)
EMBO Mol. Med.
, vol.4
, pp. 380-395
-
-
Sánchez-Danes, A.1
-
46
-
-
84882749423
-
A cellular model for sporadic ALS using patient-derived induced pluripotent stem cells
-
Burkhardt, M.F. et al. A cellular model for sporadic ALS using patient-derived induced pluripotent stem cells. Mol. Cell. Neurosci. 56C, 355-364 (2013).
-
(2013)
Mol. Cell. Neurosci.
, vol.56 C
, pp. 355-364
-
-
Burkhardt, M.F.1
-
47
-
-
84878883307
-
A small molecule screen in stem-cell-derived motor neurons identifies a kinase inhibitor as a candidate therapeutic for ALS
-
Yang, Y.M. et al. A small molecule screen in stem-cell-derived motor neurons identifies a kinase inhibitor as a candidate therapeutic for ALS. Cell Stem Cell 12, 713-726 (2013).
-
(2013)
Cell Stem Cell
, vol.12
, pp. 713-726
-
-
Yang, Y.M.1
-
48
-
-
0030890733
-
Characterization of an expanded glutamine repeat androgen receptor in a neuronal cell culture system
-
Brooks, B.P. et al. Characterization of an expanded glutamine repeat androgen receptor in a neuronal cell culture system. Neurobiol. Dis. 3, 313-323 (1997).
-
(1997)
Neurobiol. Dis.
, vol.3
, pp. 313-323
-
-
Brooks, B.P.1
-
49
-
-
79954501408
-
Absence of disturbed axonal transport in spinal and bulbar muscular atrophy
-
Malik, B. et al. Absence of disturbed axonal transport in spinal and bulbar muscular atrophy. Hum. Mol. Genet. 20, 1776-1786 (2011).
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 1776-1786
-
-
Malik, B.1
-
50
-
-
0036501074
-
Molecular chaperones enhance the degradation of expanded polyglutamine repeat androgen receptor in a cellular model of spinal and bulbar muscular atrophy
-
Bailey, C.K., Andriola, I.F., Kampinga, H.H. & Merry, D.E. Molecular chaperones enhance the degradation of expanded polyglutamine repeat androgen receptor in a cellular model of spinal and bulbar muscular atrophy. Hum. Mol. Genet. 11, 515-523 (2002).
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 515-523
-
-
Bailey, C.K.1
Andriola, I.F.2
Kampinga, H.H.3
Merry, D.E.4
|