-
1
-
-
84875441083
-
The changing scene of amyotrophic lateral sclerosis
-
[1] Robberecht, W., Philips, T., The changing scene of amyotrophic lateral sclerosis. Nat. Rev. Neurosci. 14 (2013), 248–264.
-
(2013)
Nat. Rev. Neurosci.
, vol.14
, pp. 248-264
-
-
Robberecht, W.1
Philips, T.2
-
2
-
-
84964523724
-
ALS: recent developments from genetics studies
-
[2] Therrien, M., Dion, P.A., Rouleau, G.A., ALS: recent developments from genetics studies. Curr. Neurol. Neurosci. Rep., 16, 2016, 59.
-
(2016)
Curr. Neurol. Neurosci. Rep.
, vol.16
, pp. 59
-
-
Therrien, M.1
Dion, P.A.2
Rouleau, G.A.3
-
3
-
-
84893649256
-
State of play in amyotrophic lateral sclerosis genetics
-
[3] Renton, A.E., Chio, A., Traynor, B.J., State of play in amyotrophic lateral sclerosis genetics. Nat. Neurosci. 17 (2014), 17–23.
-
(2014)
Nat. Neurosci.
, vol.17
, pp. 17-23
-
-
Renton, A.E.1
Chio, A.2
Traynor, B.J.3
-
4
-
-
84926019373
-
Exploring new pathways of neurodegeneration in ALS: the role of mitochondria quality control
-
[4] Palomo, G.M., Manfredi, G., Exploring new pathways of neurodegeneration in ALS: the role of mitochondria quality control. Brain Res. 1607 (2015), 36–46.
-
(2015)
Brain Res.
, vol.1607
, pp. 36-46
-
-
Palomo, G.M.1
Manfredi, G.2
-
5
-
-
84860650335
-
Mitochondrial dysfunction in ALS
-
[5] Cozzolino, M., Carri, M.T., Mitochondrial dysfunction in ALS. Prog. Neurobiol. 97 (2012), 54–66.
-
(2012)
Prog. Neurobiol.
, vol.97
, pp. 54-66
-
-
Cozzolino, M.1
Carri, M.T.2
-
6
-
-
84875589716
-
Mitochondria and ALS: implications from novel genes and pathways
-
[6] Cozzolino, M., Ferri, A., Valle, C., Carri, M.T., Mitochondria and ALS: implications from novel genes and pathways. Mol. Cell Neurosci. 55 (2013), 44–49.
-
(2013)
Mol. Cell Neurosci.
, vol.55
, pp. 44-49
-
-
Cozzolino, M.1
Ferri, A.2
Valle, C.3
Carri, M.T.4
-
7
-
-
84878556716
-
Protein aggregation in amyotrophic lateral sclerosis
-
[7] Blokhuis, A.M., Groen, E.J., Koppers, M., van den Berg, L.H., Pasterkamp, R.J., Protein aggregation in amyotrophic lateral sclerosis. Acta Neuropathol. 125 (2013), 777–794.
-
(2013)
Acta Neuropathol.
, vol.125
, pp. 777-794
-
-
Blokhuis, A.M.1
Groen, E.J.2
Koppers, M.3
van den Berg, L.H.4
Pasterkamp, R.J.5
-
8
-
-
84974653241
-
Two superoxide dismutase prion strains transmit amyotrophic lateral sclerosis-like disease
-
[8] Bidhendi, E.E., Bergh, J., Zetterstrom, P., Andersen, P.M., Marklund, S.L., Brannstrom, T., Two superoxide dismutase prion strains transmit amyotrophic lateral sclerosis-like disease. J. Clin. Investig. 126 (2016), 2249–2253.
-
(2016)
J. Clin. Investig.
, vol.126
, pp. 2249-2253
-
-
Bidhendi, E.E.1
Bergh, J.2
Zetterstrom, P.3
Andersen, P.M.4
Marklund, S.L.5
Brannstrom, T.6
-
9
-
-
79952743365
-
Prion-like propagation of mutant superoxide dismutase-1 misfolding in neuronal cells
-
[9] Munch, C., O'Brien, J., Bertolotti, A., Prion-like propagation of mutant superoxide dismutase-1 misfolding in neuronal cells. Proc. Natl. Acad. Sci. U. S. A. 108 (2011), 3548–3553.
-
(2011)
Proc. Natl. Acad. Sci. U. S. A.
, vol.108
, pp. 3548-3553
-
-
Munch, C.1
O'Brien, J.2
Bertolotti, A.3
-
10
-
-
84952985148
-
Prion-like propagation of mutant SOD1 misfolding and motor neuron disease spread along neuroanatomical pathways
-
[10] Ayers, J.I., Fromholt, S.E., O'Neal, V.M., Diamond, J.H., Borchelt, D.R., Prion-like propagation of mutant SOD1 misfolding and motor neuron disease spread along neuroanatomical pathways. Acta Neuropathol. 131 (2016), 103–114.
-
(2016)
Acta Neuropathol.
, vol.131
, pp. 103-114
-
-
Ayers, J.I.1
Fromholt, S.E.2
O'Neal, V.M.3
Diamond, J.H.4
Borchelt, D.R.5
-
11
-
-
84891947306
-
Intranuclear aggregation of mutant FUS/TLS as a molecular pathomechanism of amyotrophic lateral sclerosis
-
[11] Nomura, T., Watanabe, S., Kaneko, K., Yamanaka, K., Nukina, N., Furukawa, Y., Intranuclear aggregation of mutant FUS/TLS as a molecular pathomechanism of amyotrophic lateral sclerosis. J. Biol. Chem. 289 (2014), 1192–1202.
-
(2014)
J. Biol. Chem.
, vol.289
, pp. 1192-1202
-
-
Nomura, T.1
Watanabe, S.2
Kaneko, K.3
Yamanaka, K.4
Nukina, N.5
Furukawa, Y.6
-
12
-
-
84970952328
-
TDP-43 is intercellularly transmitted across axon terminals
-
[12] Feiler, M.S., Strobel, B., Freischmidt, A., Helferich, A.M., Kappel, J., Brewer, B.M., Li, D., Thal, D.R., Walther, P., Ludolph, A.C., Danzer, K.M., Weishaupt, J.H., TDP-43 is intercellularly transmitted across axon terminals. J. Cell Biol. 211 (2015), 897–911.
-
(2015)
J. Cell Biol.
, vol.211
, pp. 897-911
-
-
Feiler, M.S.1
Strobel, B.2
Freischmidt, A.3
Helferich, A.M.4
Kappel, J.5
Brewer, B.M.6
Li, D.7
Thal, D.R.8
Walther, P.9
Ludolph, A.C.10
Danzer, K.M.11
Weishaupt, J.H.12
-
13
-
-
84941007556
-
SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis
-
[13] Tafuri, F., Ronchi, D., Magri, F., Comi, G.P., Corti, S., SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis. Front. Cell Neurosci., 9, 2015, 336.
-
(2015)
Front. Cell Neurosci.
, vol.9
, pp. 336
-
-
Tafuri, F.1
Ronchi, D.2
Magri, F.3
Comi, G.P.4
Corti, S.5
-
14
-
-
84990978468
-
ALS-linked misfolded SOD1 species have divergent impacts on mitochondria
-
[14] Pickles, S., Semmler, S., Broom, H.R., Destroismaisons, L., Legroux, L., Arbour, N., Meiering, E., Cashman, N.R., Vande Velde, C., ALS-linked misfolded SOD1 species have divergent impacts on mitochondria. Acta Neuropathol. Commun., 4, 2016, 43.
-
(2016)
Acta Neuropathol. Commun.
, vol.4
, pp. 43
-
-
Pickles, S.1
Semmler, S.2
Broom, H.R.3
Destroismaisons, L.4
Legroux, L.5
Arbour, N.6
Meiering, E.7
Cashman, N.R.8
Vande Velde, C.9
-
15
-
-
66749163087
-
Oligomerization of mutant SOD1 in mitochondria of motoneuronal cells drives mitochondrial damage and cell toxicity
-
[15] Cozzolino, M., Pesaresi, M.G., Amori, I., Crosio, C., Ferri, A., Nencini, M., Carri, M.T., Oligomerization of mutant SOD1 in mitochondria of motoneuronal cells drives mitochondrial damage and cell toxicity. Antioxid. Redox Signal 11 (2009), 1547–1558.
-
(2009)
Antioxid. Redox Signal
, vol.11
, pp. 1547-1558
-
-
Cozzolino, M.1
Pesaresi, M.G.2
Amori, I.3
Crosio, C.4
Ferri, A.5
Nencini, M.6
Carri, M.T.7
-
16
-
-
70449417623
-
Mutant SOD1 in neuronal mitochondria causes toxicity and mitochondrial dynamics abnormalities
-
[16] Magrane, J., Hervias, I., Henning, M.S., Damiano, M., Kawamata, H., Manfredi, G., Mutant SOD1 in neuronal mitochondria causes toxicity and mitochondrial dynamics abnormalities. Hum. Mol. Genet. 18 (2009), 4552–4564.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 4552-4564
-
-
Magrane, J.1
Hervias, I.2
Henning, M.S.3
Damiano, M.4
Kawamata, H.5
Manfredi, G.6
-
17
-
-
80155123638
-
In vivo pathogenic role of mutant SOD1 localized in the mitochondrial intermembrane space
-
[17] Igoudjil, A., Magrane, J., Fischer, L.R., Kim, H.J., Hervias, I., Dumont, M., Cortez, C., Glass, J.D., Starkov, A.A., Manfredi, G., In vivo pathogenic role of mutant SOD1 localized in the mitochondrial intermembrane space. J. Neurosci. 31 (2011), 15826–15837.
-
(2011)
J. Neurosci.
, vol.31
, pp. 15826-15837
-
-
Igoudjil, A.1
Magrane, J.2
Fischer, L.R.3
Kim, H.J.4
Hervias, I.5
Dumont, M.6
Cortez, C.7
Glass, J.D.8
Starkov, A.A.9
Manfredi, G.10
-
18
-
-
84922933742
-
Mitochondrial membrane disruption by aggregation products of ALS-causing superoxide dismutase-1 mutants
-
[18] Salehi, M., Nikkhah, M., Ghasemi, A., Arab, S.S., Mitochondrial membrane disruption by aggregation products of ALS-causing superoxide dismutase-1 mutants. Int. J. Biol. Macromol. 75 (2015), 290–297.
-
(2015)
Int. J. Biol. Macromol.
, vol.75
, pp. 290-297
-
-
Salehi, M.1
Nikkhah, M.2
Ghasemi, A.3
Arab, S.S.4
-
19
-
-
75349097530
-
A causative link between the structure of aberrant protein oligomers and their toxicity
-
[19] Campioni, S., Mannini, B., Zampagni, M., Pensalfini, A., Parrini, C., Evangelisti, E., Relini, A., Stefani, M., Dobson, C.M., Cecchi, C., Chiti, F., A causative link between the structure of aberrant protein oligomers and their toxicity. Nat. Chem. Biol. 6 (2010), 140–147.
-
(2010)
Nat. Chem. Biol.
, vol.6
, pp. 140-147
-
-
Campioni, S.1
Mannini, B.2
Zampagni, M.3
Pensalfini, A.4
Parrini, C.5
Evangelisti, E.6
Relini, A.7
Stefani, M.8
Dobson, C.M.9
Cecchi, C.10
Chiti, F.11
-
20
-
-
77955961922
-
Misfolded mutant SOD1 directly inhibits VDAC1 conductance in a mouse model of inherited ALS
-
[20] Israelson, A., Arbel, N., Da Cruz, S., Ilieva, H., Yamanaka, K., Shoshan-Barmatz, V., Cleveland, D.W., Misfolded mutant SOD1 directly inhibits VDAC1 conductance in a mouse model of inherited ALS. Neuron 67 (2010), 575–587.
-
(2010)
Neuron
, vol.67
, pp. 575-587
-
-
Israelson, A.1
Arbel, N.2
Da Cruz, S.3
Ilieva, H.4
Yamanaka, K.5
Shoshan-Barmatz, V.6
Cleveland, D.W.7
-
21
-
-
78650503526
-
ALS-linked mutant superoxide dismutase 1 (SOD1) alters mitochondrial protein composition and decreases protein import
-
[21] Li, Q., Vande Velde, C., Israelson, A., Xie, J., Bailey, A.O., Dong, M.Q., Chun, S.J., Roy, T., Winer, L., Yates, J.R., Capaldi, R.A., Cleveland, D.W., Miller, T.M., ALS-linked mutant superoxide dismutase 1 (SOD1) alters mitochondrial protein composition and decreases protein import. Proc. Natl. Acad. Sci. U. S. A. 107 (2010), 21146–21151.
-
(2010)
Proc. Natl. Acad. Sci. U. S. A.
, vol.107
, pp. 21146-21151
-
-
Li, Q.1
Vande Velde, C.2
Israelson, A.3
Xie, J.4
Bailey, A.O.5
Dong, M.Q.6
Chun, S.J.7
Roy, T.8
Winer, L.9
Yates, J.R.10
Capaldi, R.A.11
Cleveland, D.W.12
Miller, T.M.13
-
22
-
-
84930332449
-
Macrophage migration inhibitory factor as a chaperone inhibiting accumulation of misfolded SOD1
-
[22] Israelson, A., Ditsworth, D., Sun, S., Song, S., Liang, J., Hruska-Plochan, M., McAlonis-Downes, M., Abu-Hamad, S., Zoltsman, G., Shani, T., Maldonado, M., Bui, A., Navarro, M., Zhou, H., Marsala, M., Kaspar, B.K., Da Cruz, S., Cleveland, D.W., Macrophage migration inhibitory factor as a chaperone inhibiting accumulation of misfolded SOD1. Neuron 86 (2015), 218–232.
-
(2015)
Neuron
, vol.86
, pp. 218-232
-
-
Israelson, A.1
Ditsworth, D.2
Sun, S.3
Song, S.4
Liang, J.5
Hruska-Plochan, M.6
McAlonis-Downes, M.7
Abu-Hamad, S.8
Zoltsman, G.9
Shani, T.10
Maldonado, M.11
Bui, A.12
Navarro, M.13
Zhou, H.14
Marsala, M.15
Kaspar, B.K.16
Da Cruz, S.17
Cleveland, D.W.18
-
23
-
-
84943568710
-
FUS interacts with HSP60 to promote mitochondrial damage
-
[23] Deng, J., Yang, M., Chen, Y., Chen, X., Liu, J., Sun, S., Cheng, H., Li, Y., Bigio, E.H., Mesulam, M., Xu, Q., Du, S., Fushimi, K., Zhu, L., Wu, J.Y., FUS interacts with HSP60 to promote mitochondrial damage. PLoS Genet., 11, 2015, e1005357.
-
(2015)
PLoS Genet.
, vol.11
, pp. e1005357
-
-
Deng, J.1
Yang, M.2
Chen, Y.3
Chen, X.4
Liu, J.5
Sun, S.6
Cheng, H.7
Li, Y.8
Bigio, E.H.9
Mesulam, M.10
Xu, Q.11
Du, S.12
Fushimi, K.13
Zhu, L.14
Wu, J.Y.15
-
24
-
-
84887540422
-
The ALS disease-associated mutant TDP-43 impairs mitochondrial dynamics and function in motor neurons
-
[24] Wang, W., Li, L., Lin, W.L., Dickson, D.W., Petrucelli, L., Zhang, T., Wang, X., The ALS disease-associated mutant TDP-43 impairs mitochondrial dynamics and function in motor neurons. Hum. Mol. Genet. 22 (2013), 4706–4719.
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 4706-4719
-
-
Wang, W.1
Li, L.2
Lin, W.L.3
Dickson, D.W.4
Petrucelli, L.5
Zhang, T.6
Wang, X.7
-
25
-
-
84896699383
-
Mechanisms of toxicity in C9FTLD/ALS
-
[25] Gendron, T.F., Belzil, V.V., Zhang, Y.J., Petrucelli, L., Mechanisms of toxicity in C9FTLD/ALS. Acta Neuropathol. 127 (2014), 359–376.
-
(2014)
Acta Neuropathol.
, vol.127
, pp. 359-376
-
-
Gendron, T.F.1
Belzil, V.V.2
Zhang, Y.J.3
Petrucelli, L.4
-
26
-
-
84942122433
-
Differential toxicity of nuclear RNA foci versus dipeptide repeat proteins in a Drosophila model of C9ORF72 FTD/ALS
-
[26] Tran, H., Almeida, S., Moore, J., Gendron, T.F., Chalasani, U., Lu, Y., Du, X., Nickerson, J.A., Petrucelli, L., Weng, Z., Gao, F.B., Differential toxicity of nuclear RNA foci versus dipeptide repeat proteins in a Drosophila model of C9ORF72 FTD/ALS. Neuron 87 (2015), 1207–1214.
-
(2015)
Neuron
, vol.87
, pp. 1207-1214
-
-
Tran, H.1
Almeida, S.2
Moore, J.3
Gendron, T.F.4
Chalasani, U.5
Lu, Y.6
Du, X.7
Nickerson, J.A.8
Petrucelli, L.9
Weng, Z.10
Gao, F.B.11
-
27
-
-
84991320347
-
Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts
-
[27] Onesto, E., Colombrita, C., Gumina, V., Borghi, M.O., Dusi, S., Doretti, A., Fagiolari, G., Invernizzi, F., Moggio, M., Tiranti, V., Silani, V., Ratti, A., Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts. Acta Neuropathol. Commun., 4, 2016, 47.
-
(2016)
Acta Neuropathol. Commun.
, vol.4
, pp. 47
-
-
Onesto, E.1
Colombrita, C.2
Gumina, V.3
Borghi, M.O.4
Dusi, S.5
Doretti, A.6
Fagiolari, G.7
Invernizzi, F.8
Moggio, M.9
Tiranti, V.10
Silani, V.11
Ratti, A.12
-
28
-
-
84982803301
-
C9orf72 hexanucleotide expansions are associated with altered ER calcium homeostasis and stress granule formation in iPSC-derived neurons from patients with amyotrophic lateral sclerosis and frontotemporal dementia
-
[28] Dafinca, R., Scaber, J., Ababneh, N., Lalic, T., Weir, G., Christian, H., Vowles, J., Douglas, A.G., Fletcher-Jones, A., Browne, C., Nakanishi, M., Turner, M.R., Wade-Martins, R., Cowley, S.A., Talbot, K., C9orf72 hexanucleotide expansions are associated with altered ER calcium homeostasis and stress granule formation in iPSC-derived neurons from patients with amyotrophic lateral sclerosis and frontotemporal dementia. Stem Cells, 2016, 10.1002/stem.2388.
-
(2016)
Stem Cells
-
-
Dafinca, R.1
Scaber, J.2
Ababneh, N.3
Lalic, T.4
Weir, G.5
Christian, H.6
Vowles, J.7
Douglas, A.G.8
Fletcher-Jones, A.9
Browne, C.10
Nakanishi, M.11
Turner, M.R.12
Wade-Martins, R.13
Cowley, S.A.14
Talbot, K.15
-
29
-
-
84940426318
-
Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS
-
[29] Jovicic, A., Mertens, J., Boeynaems, S., Bogaert, E., Chai, N., Yamada, S.B., Paul, J.W. 3rd, Sun, S., Herdy, J.R., Bieri, G., Kramer, N.J., Gage, F.H., Van Den Bosch, L., Robberecht, W., Gitler, A.D., Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS. Nat. Neurosci. 18 (2015), 1226–1229.
-
(2015)
Nat. Neurosci.
, vol.18
, pp. 1226-1229
-
-
Jovicic, A.1
Mertens, J.2
Boeynaems, S.3
Bogaert, E.4
Chai, N.5
Yamada, S.B.6
Paul, J.W.7
Sun, S.8
Herdy, J.R.9
Bieri, G.10
Kramer, N.J.11
Gage, F.H.12
Van Den Bosch, L.13
Robberecht, W.14
Gitler, A.D.15
-
30
-
-
84875906572
-
Mitochondrial dynamics in the regulation of nutrient utilization and energy expenditure
-
[30] Liesa, M., Shirihai, O.S., Mitochondrial dynamics in the regulation of nutrient utilization and energy expenditure. Cell Metab. 17 (2013), 491–506.
-
(2013)
Cell Metab.
, vol.17
, pp. 491-506
-
-
Liesa, M.1
Shirihai, O.S.2
-
31
-
-
77951096150
-
Mitochondrial dynamics–fusion, fission, movement, and mitophagy–in neurodegenerative diseases
-
[31] Chen, H., Chan, D.C., Mitochondrial dynamics–fusion, fission, movement, and mitophagy–in neurodegenerative diseases. Hum. Mol. Genet. 18 (2009), R169–R176.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. R169-R176
-
-
Chen, H.1
Chan, D.C.2
-
32
-
-
84872833228
-
Mitochondrial dynamics in neurodegeneration
-
[32] Itoh, K., Nakamura, K., Iijima, M., Sesaki, H., Mitochondrial dynamics in neurodegeneration. Trends Cell Biol. 23 (2013), 64–71.
-
(2013)
Trends Cell Biol.
, vol.23
, pp. 64-71
-
-
Itoh, K.1
Nakamura, K.2
Iijima, M.3
Sesaki, H.4
-
33
-
-
77958495868
-
Glutaredoxin 2 prevents aggregation of mutant SOD1 in mitochondria and abolishes its toxicity
-
[33] Ferri, A., Fiorenzo, P., Nencini, M., Cozzolino, M., Pesaresi, M.G., Valle, C., Sepe, S., Moreno, S., Carri, M.T., Glutaredoxin 2 prevents aggregation of mutant SOD1 in mitochondria and abolishes its toxicity. Hum. Mol. Genet. 19 (2010), 4529–4542.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 4529-4542
-
-
Ferri, A.1
Fiorenzo, P.2
Nencini, M.3
Cozzolino, M.4
Pesaresi, M.G.5
Valle, C.6
Sepe, S.7
Moreno, S.8
Carri, M.T.9
-
34
-
-
84880281296
-
Mitochondrial fusion and fission proteins expression dynamically change in a murine model of amyotrophic lateral sclerosis
-
[34] Liu, W., Yamashita, T., Tian, F., Morimoto, N., Ikeda, Y., Deguchi, K., Abe, K., Mitochondrial fusion and fission proteins expression dynamically change in a murine model of amyotrophic lateral sclerosis. Curr. Neurovasc Res. 10 (2013), 222–230.
-
(2013)
Curr. Neurovasc Res.
, vol.10
, pp. 222-230
-
-
Liu, W.1
Yamashita, T.2
Tian, F.3
Morimoto, N.4
Ikeda, Y.5
Deguchi, K.6
Abe, K.7
-
35
-
-
84872683148
-
Mutant SOD1G93A triggers mitochondrial fragmentation in spinal cord motor neurons: neuroprotection by SIRT3 and PGC-1alpha
-
[35] Song, W., Song, Y., Kincaid, B., Bossy, B., Bossy-Wetzel, E., Mutant SOD1G93A triggers mitochondrial fragmentation in spinal cord motor neurons: neuroprotection by SIRT3 and PGC-1alpha. Neurobiol. Dis. 51 (2013), 72–81.
-
(2013)
Neurobiol. Dis.
, vol.51
, pp. 72-81
-
-
Song, W.1
Song, Y.2
Kincaid, B.3
Bossy, B.4
Bossy-Wetzel, E.5
-
36
-
-
84905041572
-
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
-
[36] Bannwarth, S., Ait-El-Mkadem, S., Chaussenot, A., Genin, E.C., Lacas-Gervais, S., Fragaki, K., Berg-Alonso, L., Kageyama, Y., Serre, V., Moore, D.G., Verschueren, A., Rouzier, C., Le Ber, I., Auge, G., Cochaud, C., Lespinasse, F., N'Guyen, K., de Septenville, A., Brice, A., Yu-Wai-Man, P., Sesaki, H., Pouget, J., Paquis-Flucklinger, V., A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. Brain 137 (2014), 2329–2345.
-
(2014)
Brain
, vol.137
, pp. 2329-2345
-
-
Bannwarth, S.1
Ait-El-Mkadem, S.2
Chaussenot, A.3
Genin, E.C.4
Lacas-Gervais, S.5
Fragaki, K.6
Berg-Alonso, L.7
Kageyama, Y.8
Serre, V.9
Moore, D.G.10
Verschueren, A.11
Rouzier, C.12
Le Ber, I.13
Auge, G.14
Cochaud, C.15
Lespinasse, F.16
N'Guyen, K.17
de Septenville, A.18
Brice, A.19
Yu-Wai-Man, P.20
Sesaki, H.21
Pouget, J.22
Paquis-Flucklinger, V.23
more..
-
37
-
-
79961163495
-
Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2
-
[37] Ajroud-Driss, S., Deng, H.X., Siddique, T., Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2. Curr. Neurol. Neurosci. Rep. 11 (2011), 262–273.
-
(2011)
Curr. Neurol. Neurosci. Rep.
, vol.11
, pp. 262-273
-
-
Ajroud-Driss, S.1
Deng, H.X.2
Siddique, T.3
-
38
-
-
85010461627
-
Mitochondrial dynamism and the pathogenesis of amyotrophic lateral sclerosis
-
[38] Cozzolino, M., Rossi, S., Mirra, A., Carri, M.T., Mitochondrial dynamism and the pathogenesis of amyotrophic lateral sclerosis. Front. Cell Neurosci., 9, 2015, 31.
-
(2015)
Front. Cell Neurosci.
, vol.9
, pp. 31
-
-
Cozzolino, M.1
Rossi, S.2
Mirra, A.3
Carri, M.T.4
-
39
-
-
84956738385
-
CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis
-
[39] Genin, E.C., Plutino, M., Bannwarth, S., Villa, E., Cisneros-Barroso, E., Roy, M., Ortega-Vila, B., Fragaki, K., Lespinasse, F., Pinero-Martos, E., Auge, G., Moore, D., Burte, F., Lacas-Gervais, S., Kageyama, Y., Itoh, K., Yu-Wai-Man, P., Sesaki, H., Ricci, J.E., Vives-Bauza, C., Paquis-Flucklinger, V., CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis. EMBO Mol. Med. 8 (2016), 58–72.
-
(2016)
EMBO Mol. Med.
, vol.8
, pp. 58-72
-
-
Genin, E.C.1
Plutino, M.2
Bannwarth, S.3
Villa, E.4
Cisneros-Barroso, E.5
Roy, M.6
Ortega-Vila, B.7
Fragaki, K.8
Lespinasse, F.9
Pinero-Martos, E.10
Auge, G.11
Moore, D.12
Burte, F.13
Lacas-Gervais, S.14
Kageyama, Y.15
Itoh, K.16
Yu-Wai-Man, P.17
Sesaki, H.18
Ricci, J.E.19
Vives-Bauza, C.20
Paquis-Flucklinger, V.21
more..
-
40
-
-
84964925916
-
Mitochondrial contact site and cristae organizing system
-
[40] van der Laan, M., Horvath, S.E., Pfanner, N., Mitochondrial contact site and cristae organizing system. Curr. Opin. Cell Biol. 41 (2016), 33–42.
-
(2016)
Curr. Opin. Cell Biol.
, vol.41
, pp. 33-42
-
-
van der Laan, M.1
Horvath, S.E.2
Pfanner, N.3
-
41
-
-
84959521117
-
Mitochondrial cristae: where beauty meets functionality
-
[41] Cogliati, S., Enriquez, J.A., Scorrano, L., Mitochondrial cristae: where beauty meets functionality. Trends Biochem. Sci. 41 (2016), 261–273.
-
(2016)
Trends Biochem. Sci.
, vol.41
, pp. 261-273
-
-
Cogliati, S.1
Enriquez, J.A.2
Scorrano, L.3
-
42
-
-
84957428131
-
Mic60/Mitofilin determines MICOS assembly essential for mitochondrial dynamics and mtDNA nucleoid organization
-
[42] Li, H., Ruan, Y., Zhang, K., Jian, F., Hu, C., Miao, L., Gong, L., Sun, L., Zhang, X., Chen, S., Chen, H., Liu, D., Song, Z., Mic60/Mitofilin determines MICOS assembly essential for mitochondrial dynamics and mtDNA nucleoid organization. Cell Death Differ. 23 (2016), 380–392.
-
(2016)
Cell Death Differ.
, vol.23
, pp. 380-392
-
-
Li, H.1
Ruan, Y.2
Zhang, K.3
Jian, F.4
Hu, C.5
Miao, L.6
Gong, L.7
Sun, L.8
Zhang, X.9
Chen, S.10
Chen, H.11
Liu, D.12
Song, Z.13
-
43
-
-
84905833829
-
A splicing mutation in the novel mitochondrial protein DNAJC11 causes motor neuron pathology associated with cristae disorganization, and lymphoid abnormalities in mice
-
[43] Ioakeimidis, F., Ott, C., Kozjak-Pavlovic, V., Violitzi, F., Rinotas, V., Makrinou, E., Eliopoulos, E., Fasseas, C., Kollias, G., Douni, E., A splicing mutation in the novel mitochondrial protein DNAJC11 causes motor neuron pathology associated with cristae disorganization, and lymphoid abnormalities in mice. PLoS One, 9, 2014, e104237.
-
(2014)
PLoS One
, vol.9
, pp. e104237
-
-
Ioakeimidis, F.1
Ott, C.2
Kozjak-Pavlovic, V.3
Violitzi, F.4
Rinotas, V.5
Makrinou, E.6
Eliopoulos, E.7
Fasseas, C.8
Kollias, G.9
Douni, E.10
-
44
-
-
84890803688
-
Autophagy and apoptosis dysfunction in neurodegenerative disorders
-
[44] Ghavami, S., Shojaei, S., Yeganeh, B., Ande, S.R., Jangamreddy, J.R., Mehrpour, M., Christoffersson, J., Chaabane, W., Moghadam, A.R., Kashani, H.H., Hashemi, M., Owji, A.A., Los, M.J., Autophagy and apoptosis dysfunction in neurodegenerative disorders. Prog. Neurobiol. 112 (2014), 24–49.
-
(2014)
Prog. Neurobiol.
, vol.112
, pp. 24-49
-
-
Ghavami, S.1
Shojaei, S.2
Yeganeh, B.3
Ande, S.R.4
Jangamreddy, J.R.5
Mehrpour, M.6
Christoffersson, J.7
Chaabane, W.8
Moghadam, A.R.9
Kashani, H.H.10
Hashemi, M.11
Owji, A.A.12
Los, M.J.13
-
45
-
-
84959481890
-
The ubiquitin signal and autophagy: an orchestrated dance leading to mitochondrial degradation
-
[45] Yamano, K., Matsuda, N., Tanaka, K., The ubiquitin signal and autophagy: an orchestrated dance leading to mitochondrial degradation. EMBO Rep. 17 (2016), 300–316.
-
(2016)
EMBO Rep.
, vol.17
, pp. 300-316
-
-
Yamano, K.1
Matsuda, N.2
Tanaka, K.3
-
46
-
-
77952419246
-
Mutations of optineurin in amyotrophic lateral sclerosis
-
[46] Maruyama, H., Morino, H., Ito, H., Izumi, Y., Kato, H., Watanabe, Y., Kinoshita, Y., Kamada, M., Nodera, H., Suzuki, H., Komure, O., Matsuura, S., Kobatake, K., Morimoto, N., Abe, K., Suzuki, N., Aoki, M., Kawata, A., Hirai, T., Kato, T., Ogasawara, K., Hirano, A., Takumi, T., Kusaka, H., Hagiwara, K., Kaji, R., Kawakami, H., Mutations of optineurin in amyotrophic lateral sclerosis. Nature 465 (2010), 223–226.
-
(2010)
Nature
, vol.465
, pp. 223-226
-
-
Maruyama, H.1
Morino, H.2
Ito, H.3
Izumi, Y.4
Kato, H.5
Watanabe, Y.6
Kinoshita, Y.7
Kamada, M.8
Nodera, H.9
Suzuki, H.10
Komure, O.11
Matsuura, S.12
Kobatake, K.13
Morimoto, N.14
Abe, K.15
Suzuki, N.16
Aoki, M.17
Kawata, A.18
Hirai, T.19
Kato, T.20
Ogasawara, K.21
Hirano, A.22
Takumi, T.23
Kusaka, H.24
Hagiwara, K.25
Kaji, R.26
Kawakami, H.27
more..
-
47
-
-
84908065760
-
Optineurin is an autophagy receptor for damaged mitochondria in parkin-mediated mitophagy that is disrupted by an ALS-linked mutation
-
[47] Wong, Y.C., Holzbaur, E.L., Optineurin is an autophagy receptor for damaged mitochondria in parkin-mediated mitophagy that is disrupted by an ALS-linked mutation. Proc. Natl. Acad. Sci. U. S. A. 111 (2014), E4439–E4448.
-
(2014)
Proc. Natl. Acad. Sci. U. S. A.
, vol.111
, pp. E4439-E4448
-
-
Wong, Y.C.1
Holzbaur, E.L.2
-
48
-
-
79960804104
-
Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth
-
[48] Wild, P., Farhan, H., McEwan, D.G., Wagner, S., Rogov, V.V., Brady, N.R., Richter, B., Korac, J., Waidmann, O., Choudhary, C., Dotsch, V., Bumann, D., Dikic, I., Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth. Science 333 (2011), 228–233.
-
(2011)
Science
, vol.333
, pp. 228-233
-
-
Wild, P.1
Farhan, H.2
McEwan, D.G.3
Wagner, S.4
Rogov, V.V.5
Brady, N.R.6
Richter, B.7
Korac, J.8
Waidmann, O.9
Choudhary, C.10
Dotsch, V.11
Bumann, D.12
Dikic, I.13
-
49
-
-
84951930787
-
The PINK1-PARKIN mitochondrial ubiquitylation pathway drives a program of OPTN/NDP52 recruitment and TBK1 activation to promote mitophagy
-
[49] Heo, J.M., Ordureau, A., Paulo, J.A., Rinehart, J., Harper, J.W., The PINK1-PARKIN mitochondrial ubiquitylation pathway drives a program of OPTN/NDP52 recruitment and TBK1 activation to promote mitophagy. Mol. Cell 60 (2015), 7–20.
-
(2015)
Mol. Cell
, vol.60
, pp. 7-20
-
-
Heo, J.M.1
Ordureau, A.2
Paulo, J.A.3
Rinehart, J.4
Harper, J.W.5
-
50
-
-
84945749129
-
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
-
[50] Cirulli, E.T., Lasseigne, B.N., Petrovski, S., Sapp, P.C., Dion, P.A., Leblond, C.S., Couthouis, J., Lu, Y.F., Wang, Q., Krueger, B.J., Ren, Z., Keebler, J., Han, Y., Levy, S.E., Boone, B.E., Wimbish, J.R., Waite, L.L., Jones, A.L., Carulli, J.P., Day-Williams, A.G., Staropoli, J.F., Xin, W.W., Chesi, A., Raphael, A.R., McKenna-Yasek, D., Cady, J., Vianney de Jong, J.M., Kenna, K.P., Smith, B.N., Topp, S., Miller, J., Gkazi, A., Al-Chalabi, A., van den Berg, L.H., Veldink, J., Silani, V., Ticozzi, N., Shaw, C.E., Baloh, R.H., Appel, S., Simpson, E., Lagier-Tourenne, C., Pulst, S.M., Gibson, S., Trojanowski, J.Q., Elman, L., McCluskey, L., Grossman, M., Shneider, N.A., Chung, W.K., Ravits, J.M., Glass, J.D., Sims, K.B., Van Deerlin, V.M., Maniatis, T., Hayes, S.D., Ordureau, A., Swarup, S., Landers, J., Baas, F., Allen, A.S., Bedlack, R.S., Harper, J.W., Gitler, A.D., Rouleau, G.A., Brown, R., Harms, M.B., Cooper, G.M., Harris, T., Myers, R.M., Goldstein, D.B., Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science 347 (2015), 1436–1441.
-
(2015)
Science
, vol.347
, pp. 1436-1441
-
-
Cirulli, E.T.1
Lasseigne, B.N.2
Petrovski, S.3
Sapp, P.C.4
Dion, P.A.5
Leblond, C.S.6
Couthouis, J.7
Lu, Y.F.8
Wang, Q.9
Krueger, B.J.10
Ren, Z.11
Keebler, J.12
Han, Y.13
Levy, S.E.14
Boone, B.E.15
Wimbish, J.R.16
Waite, L.L.17
Jones, A.L.18
Carulli, J.P.19
Day-Williams, A.G.20
Staropoli, J.F.21
Xin, W.W.22
Chesi, A.23
Raphael, A.R.24
McKenna-Yasek, D.25
Cady, J.26
Vianney de Jong, J.M.27
Kenna, K.P.28
Smith, B.N.29
Topp, S.30
Miller, J.31
Gkazi, A.32
Al-Chalabi, A.33
van den Berg, L.H.34
Veldink, J.35
Silani, V.36
Ticozzi, N.37
Shaw, C.E.38
Baloh, R.H.39
Appel, S.40
Simpson, E.41
Lagier-Tourenne, C.42
Pulst, S.M.43
Gibson, S.44
Trojanowski, J.Q.45
Elman, L.46
McCluskey, L.47
Grossman, M.48
Shneider, N.A.49
Chung, W.K.50
Ravits, J.M.51
Glass, J.D.52
Sims, K.B.53
Van Deerlin, V.M.54
Maniatis, T.55
Hayes, S.D.56
Ordureau, A.57
Swarup, S.58
Landers, J.59
Baas, F.60
Allen, A.S.61
Bedlack, R.S.62
Harper, J.W.63
Gitler, A.D.64
Rouleau, G.A.65
Brown, R.66
Harms, M.B.67
Cooper, G.M.68
Harris, T.69
Myers, R.M.70
Goldstein, D.B.71
more..
-
51
-
-
84928695187
-
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
-
[51] Freischmidt, A., Wieland, T., Richter, B., Ruf, W., Schaeffer, V., Muller, K., Marroquin, N., Nordin, F., Hubers, A., Weydt, P., Pinto, S., Press, R., Millecamps, S., Molko, N., Bernard, E., Desnuelle, C., Soriani, M.H., Dorst, J., Graf, E., Nordstrom, U., Feiler, M.S., Putz, S., Boeckers, T.M., Meyer, T., Winkler, A.S., Winkelman, J., de Carvalho, M., Thal, D.R., Otto, M., Brannstrom, T., Volk, A.E., Kursula, P., Danzer, K.M., Lichtner, P., Dikic, I., Meitinger, T., Ludolph, A.C., Strom, T.M., Andersen, P.M., Weishaupt, J.H., Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. Nat. Neurosci. 18 (2015), 631–636.
-
(2015)
Nat. Neurosci.
, vol.18
, pp. 631-636
-
-
Freischmidt, A.1
Wieland, T.2
Richter, B.3
Ruf, W.4
Schaeffer, V.5
Muller, K.6
Marroquin, N.7
Nordin, F.8
Hubers, A.9
Weydt, P.10
Pinto, S.11
Press, R.12
Millecamps, S.13
Molko, N.14
Bernard, E.15
Desnuelle, C.16
Soriani, M.H.17
Dorst, J.18
Graf, E.19
Nordstrom, U.20
Feiler, M.S.21
Putz, S.22
Boeckers, T.M.23
Meyer, T.24
Winkler, A.S.25
Winkelman, J.26
de Carvalho, M.27
Thal, D.R.28
Otto, M.29
Brannstrom, T.30
Volk, A.E.31
Kursula, P.32
Danzer, K.M.33
Lichtner, P.34
Dikic, I.35
Meitinger, T.36
Ludolph, A.C.37
Strom, T.M.38
Andersen, P.M.39
Weishaupt, J.H.40
more..
-
52
-
-
84974815636
-
Dynamic recruitment and activation of ALS-associated TBK1 with its target optineurin are required for efficient mitophagy
-
[52] Moore, A.S., Holzbaur, E.L., Dynamic recruitment and activation of ALS-associated TBK1 with its target optineurin are required for efficient mitophagy. Proc. Natl. Acad. Sci. U. S. A. 113 (2016), E3349–3358.
-
(2016)
Proc. Natl. Acad. Sci. U. S. A.
, vol.113
, pp. E3349-3358
-
-
Moore, A.S.1
Holzbaur, E.L.2
-
53
-
-
84867543551
-
SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
[53] Rubino, E., Rainero, I., Chio, A., Rogaeva, E., Galimberti, D., Fenoglio, P., Grinberg, Y., Isaia, G., Calvo, A., Gentile, S., Bruni, A.C., St George-Hyslop, P.H., Scarpini, E., Gallone, S., Pinessi, L., SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Neurology 79 (2012), 1556–1562.
-
(2012)
Neurology
, vol.79
, pp. 1556-1562
-
-
Rubino, E.1
Rainero, I.2
Chio, A.3
Rogaeva, E.4
Galimberti, D.5
Fenoglio, P.6
Grinberg, Y.7
Isaia, G.8
Calvo, A.9
Gentile, S.10
Bruni, A.C.11
St George-Hyslop, P.H.12
Scarpini, E.13
Gallone, S.14
Pinessi, L.15
-
54
-
-
84966713295
-
Defective recognition of LC3B by mutant SQSTM1/p62 implicates impairment of autophagy as a pathogenic mechanism in ALS-FTLD
-
[54] Goode, A., Butler, K., Long, J., Cavey, J., Scott, D., Shaw, B., Sollenberger, J., Gell, C., Johansen, T., Oldham, N.J., Searle, M.S., Layfield, R., Defective recognition of LC3B by mutant SQSTM1/p62 implicates impairment of autophagy as a pathogenic mechanism in ALS-FTLD. Autophagy, 2016, 1–11.
-
(2016)
Autophagy
, pp. 1-11
-
-
Goode, A.1
Butler, K.2
Long, J.3
Cavey, J.4
Scott, D.5
Shaw, B.6
Sollenberger, J.7
Gell, C.8
Johansen, T.9
Oldham, N.J.10
Searle, M.S.11
Layfield, R.12
-
55
-
-
78649941297
-
Exome sequencing reveals VCP mutations as a cause of familial ALS
-
[55] Johnson, J.O., Mandrioli, J., Benatar, M., Abramzon, Y., Van Deerlin, V.M., Trojanowski, J.Q., Gibbs, J.R., Brunetti, M., Gronka, S., Wuu, J., Ding, J., McCluskey, L., Martinez-Lage, M., Falcone, D., Hernandez, D.G., Arepalli, S., Chong, S., Schymick, J.C., Rothstein, J., Landi, F., Wang, Y.D., Calvo, A., Mora, G., Sabatelli, M., Monsurro, M.R., Battistini, S., Salvi, F., Spataro, R., Sola, P., Borghero, G., Galassi, G., Scholz, S.W., Taylor, J.P., Restagno, G., Chio, A., Traynor, B.J., Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 68 (2010), 857–864.
-
(2010)
Neuron
, vol.68
, pp. 857-864
-
-
Johnson, J.O.1
Mandrioli, J.2
Benatar, M.3
Abramzon, Y.4
Van Deerlin, V.M.5
Trojanowski, J.Q.6
Gibbs, J.R.7
Brunetti, M.8
Gronka, S.9
Wuu, J.10
Ding, J.11
McCluskey, L.12
Martinez-Lage, M.13
Falcone, D.14
Hernandez, D.G.15
Arepalli, S.16
Chong, S.17
Schymick, J.C.18
Rothstein, J.19
Landi, F.20
Wang, Y.D.21
Calvo, A.22
Mora, G.23
Sabatelli, M.24
Monsurro, M.R.25
Battistini, S.26
Salvi, F.27
Spataro, R.28
Sola, P.29
Borghero, G.30
Galassi, G.31
Scholz, S.W.32
Taylor, J.P.33
Restagno, G.34
Chio, A.35
Traynor, B.J.36
more..
-
56
-
-
84876070458
-
VCP is essential for mitochondrial quality control by PINK1/Parkin and this function is impaired by VCP mutations
-
[56] Kim, N.C., Tresse, E., Kolaitis, R.M., Molliex, A., Thomas, R.E., Alami, N.H., Wang, B., Joshi, A., Smith, R.B., Ritson, G.P., Winborn, B.J., Moore, J., Lee, J.Y., Yao, T.P., Pallanck, L., Kundu, M., Taylor, J.P., VCP is essential for mitochondrial quality control by PINK1/Parkin and this function is impaired by VCP mutations. Neuron 78 (2013), 65–80.
-
(2013)
Neuron
, vol.78
, pp. 65-80
-
-
Kim, N.C.1
Tresse, E.2
Kolaitis, R.M.3
Molliex, A.4
Thomas, R.E.5
Alami, N.H.6
Wang, B.7
Joshi, A.8
Smith, R.B.9
Ritson, G.P.10
Winborn, B.J.11
Moore, J.12
Lee, J.Y.13
Yao, T.P.14
Pallanck, L.15
Kundu, M.16
Taylor, J.P.17
-
57
-
-
79952255326
-
Pathogenic VCP/TER94 alleles are dominant actives and contribute to neurodegeneration by altering cellular ATP level in a Drosophila IBMPFD model
-
[57] Chang, Y.C., Hung, W.T., Chang, H.C., Wu, C.L., Chiang, A.S., Jackson, G.R., Sang, T.K., Pathogenic VCP/TER94 alleles are dominant actives and contribute to neurodegeneration by altering cellular ATP level in a Drosophila IBMPFD model. PLoS Genet., 7, 2011, e1001288.
-
(2011)
PLoS Genet.
, vol.7
, pp. e1001288
-
-
Chang, Y.C.1
Hung, W.T.2
Chang, H.C.3
Wu, C.L.4
Chiang, A.S.5
Jackson, G.R.6
Sang, T.K.7
-
58
-
-
84876531457
-
PINK1-phosphorylated mitofusin 2 is a Parkin receptor for culling damaged mitochondria
-
[58] Chen, Y., Dorn, G.W. 2nd, PINK1-phosphorylated mitofusin 2 is a Parkin receptor for culling damaged mitochondria. Science 340 (2013), 471–475.
-
(2013)
Science
, vol.340
, pp. 471-475
-
-
Chen, Y.1
Dorn, G.W.2
-
59
-
-
77950384477
-
Drosophila parkin requires PINK1 for mitochondrial translocation and ubiquitinates mitofusin
-
[59] Ziviani, E., Tao, R.N., Whitworth, A.J., Drosophila parkin requires PINK1 for mitochondrial translocation and ubiquitinates mitofusin. Proc. Natl. Acad. Sci. U. S. A. 107 (2010), 5018–5023.
-
(2010)
Proc. Natl. Acad. Sci. U. S. A.
, vol.107
, pp. 5018-5023
-
-
Ziviani, E.1
Tao, R.N.2
Whitworth, A.J.3
-
60
-
-
84922926666
-
Mitochondrial fission and fusion factors reciprocally orchestrate mitophagic culling in mouse hearts and cultured fibroblasts
-
[60] Song, M., Mihara, K., Chen, Y., Scorrano, L., Dorn, G.W. 2nd, Mitochondrial fission and fusion factors reciprocally orchestrate mitophagic culling in mouse hearts and cultured fibroblasts. Cell Metab. 21 (2015), 273–285.
-
(2015)
Cell Metab.
, vol.21
, pp. 273-285
-
-
Song, M.1
Mihara, K.2
Chen, Y.3
Scorrano, L.4
Dorn, G.W.5
-
61
-
-
85000814397
-
The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway
-
[61] Sullivan, P.M., Zhou, X., Robins, A.M., Paushter, D.H., Kim, D., Smolka, M.B., Hu, F., The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway. Acta Neuropathol. Commun., 4, 2016, 51.
-
(2016)
Acta Neuropathol. Commun.
, vol.4
, pp. 51
-
-
Sullivan, P.M.1
Zhou, X.2
Robins, A.M.3
Paushter, D.H.4
Kim, D.5
Smolka, M.B.6
Hu, F.7
-
62
-
-
84969850168
-
Full ablation of C9orf72 in mice causes immune system-related pathology and neoplastic events but no motor neuron defects
-
[62] Sudria-Lopez, E., Koppers, M., de Wit, M., van der Meer, C., Westeneng, H.J., Zundel, C.A., Youssef, S.A., Harkema, L., de Bruin, A., Veldink, J.H., van den Berg, L.H., Pasterkamp, R.J., Full ablation of C9orf72 in mice causes immune system-related pathology and neoplastic events but no motor neuron defects. Acta Neuropathol. 32 (2016), 145–147.
-
(2016)
Acta Neuropathol.
, vol.32
, pp. 145-147
-
-
Sudria-Lopez, E.1
Koppers, M.2
de Wit, M.3
van der Meer, C.4
Westeneng, H.J.5
Zundel, C.A.6
Youssef, S.A.7
Harkema, L.8
de Bruin, A.9
Veldink, J.H.10
van den Berg, L.H.11
Pasterkamp, R.J.12
-
63
-
-
84961128480
-
C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice
-
[63] Atanasio, A., Decman, V., White, D., Ramos, M., Ikiz, B., Lee, H.C., Siao, C.J., Brydges, S., LaRosa, E., Bai, Y., Fury, W., Burfeind, P., Zamfirova, R., Warshaw, G., Orengo, J., Oyejide, A., Fralish, M., Auerbach, W., Poueymirou, W., Freudenberg, J., Gong, G., Zambrowicz, B., Valenzuela, D., Yancopoulos, G., Murphy, A., Thurston, G., Lai, K.M., C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice. Sci. Rep., 6, 2016, 23204.
-
(2016)
Sci. Rep.
, vol.6
, pp. 23204
-
-
Atanasio, A.1
Decman, V.2
White, D.3
Ramos, M.4
Ikiz, B.5
Lee, H.C.6
Siao, C.J.7
Brydges, S.8
LaRosa, E.9
Bai, Y.10
Fury, W.11
Burfeind, P.12
Zamfirova, R.13
Warshaw, G.14
Orengo, J.15
Oyejide, A.16
Fralish, M.17
Auerbach, W.18
Poueymirou, W.19
Freudenberg, J.20
Gong, G.21
Zambrowicz, B.22
Valenzuela, D.23
Yancopoulos, G.24
Murphy, A.25
Thurston, G.26
Lai, K.M.27
more..
-
64
-
-
84962494933
-
C9orf72 is required for proper macrophage and microglial function in mice
-
[64] O'Rourke, J.G., Bogdanik, L., Yanez, A., Lall, D., Wolf, A.J., Muhammad, A.K., Ho, R., Carmona, S., Vit, J.P., Zarrow, J., Kim, K.J., Bell, S., Harms, M.B., Miller, T.M., Dangler, C.A., Underhill, D.M., Goodridge, H.S., Lutz, C.M., Baloh, R.H., C9orf72 is required for proper macrophage and microglial function in mice. Science 351 (2016), 1324–1329.
-
(2016)
Science
, vol.351
, pp. 1324-1329
-
-
O'Rourke, J.G.1
Bogdanik, L.2
Yanez, A.3
Lall, D.4
Wolf, A.J.5
Muhammad, A.K.6
Ho, R.7
Carmona, S.8
Vit, J.P.9
Zarrow, J.10
Kim, K.J.11
Bell, S.12
Harms, M.B.13
Miller, T.M.14
Dangler, C.A.15
Underhill, D.M.16
Goodridge, H.S.17
Lutz, C.M.18
Baloh, R.H.19
-
65
-
-
84966549121
-
Comparative interactomics analysis of different ALS-associated proteins identifies converging molecular pathways
-
[65] Blokhuis, A.M., Koppers, M., Groen, E.J., van den Heuvel, D.M., Dini Modigliani, S., Anink, J.J., Fumoto, K., van Diggelen, F., Snelting, A., Sodaar, P., Verheijen, B.M., Demmers, J.A., Veldink, J.H., Aronica, E., Bozzoni, I., den Hertog, J., van den Berg, L.H., Pasterkamp, R.J., Comparative interactomics analysis of different ALS-associated proteins identifies converging molecular pathways. Acta Neuropathol., 2016, 10.1007/s00401-016-1575-8.
-
(2016)
Acta Neuropathol.
-
-
Blokhuis, A.M.1
Koppers, M.2
Groen, E.J.3
van den Heuvel, D.M.4
Dini Modigliani, S.5
Anink, J.J.6
Fumoto, K.7
van Diggelen, F.8
Snelting, A.9
Sodaar, P.10
Verheijen, B.M.11
Demmers, J.A.12
Veldink, J.H.13
Aronica, E.14
Bozzoni, I.15
den Hertog, J.16
van den Berg, L.H.17
Pasterkamp, R.J.18
-
66
-
-
84896871426
-
MAM (mitochondria-associated membranes) in mammalian cells: lipids and beyond
-
[66] Vance, J.E., MAM (mitochondria-associated membranes) in mammalian cells: lipids and beyond. Biochim. Biophys. Acta 1841 (2014), 595–609.
-
(2014)
Biochim. Biophys. Acta
, vol.1841
, pp. 595-609
-
-
Vance, J.E.1
-
67
-
-
84939608258
-
Mitochondria and endoplasmic reticulum crosstalk in amyotrophic lateral sclerosis
-
[67] Manfredi, G., Kawamata, H., Mitochondria and endoplasmic reticulum crosstalk in amyotrophic lateral sclerosis. Neurobiol. Dis. 90 (2016), 35–42.
-
(2016)
Neurobiol. Dis.
, vol.90
, pp. 35-42
-
-
Manfredi, G.1
Kawamata, H.2
-
68
-
-
6344257200
-
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
-
[68] Nishimura, A.L., Mitne-Neto, M., Silva, H.C., Richieri-Costa, A., Middleton, S., Cascio, D., Kok, F., Oliveira, J.R., Gillingwater, T., Webb, J., Skehel, P., Zatz, M., A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am. J. Hum. Genet. 75 (2004), 822–831.
-
(2004)
Am. J. Hum. Genet.
, vol.75
, pp. 822-831
-
-
Nishimura, A.L.1
Mitne-Neto, M.2
Silva, H.C.3
Richieri-Costa, A.4
Middleton, S.5
Cascio, D.6
Kok, F.7
Oliveira, J.R.8
Gillingwater, T.9
Webb, J.10
Skehel, P.11
Zatz, M.12
-
69
-
-
84878487878
-
Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis
-
[69] Kabashi, E., El Oussini, H., Bercier, V., Gros-Louis, F., Valdmanis, P.N., McDearmid, J., Mejier, I.A., Dion, P.A., Dupre, N., Hollinger, D., Sinniger, J., Dirrig-Grosch, S., Camu, W., Meininger, V., Loeffler, J.P., Rene, F., Drapeau, P., Rouleau, G.A., Dupuis, L., Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis. Hum. Mol. Genet. 22 (2013), 2350–2360.
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 2350-2360
-
-
Kabashi, E.1
El Oussini, H.2
Bercier, V.3
Gros-Louis, F.4
Valdmanis, P.N.5
McDearmid, J.6
Mejier, I.A.7
Dion, P.A.8
Dupre, N.9
Hollinger, D.10
Sinniger, J.11
Dirrig-Grosch, S.12
Camu, W.13
Meininger, V.14
Loeffler, J.P.15
Rene, F.16
Drapeau, P.17
Rouleau, G.A.18
Dupuis, L.19
-
70
-
-
84863393591
-
VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis
-
[70] De Vos, K.J., Morotz, G.M., Stoica, R., Tudor, E.L., Lau, K.F., Ackerley, S., Warley, A., Shaw, C.E., Miller, C.C., VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis. Hum. Mol. Genet. 21 (2012), 1299–1311.
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 1299-1311
-
-
De Vos, K.J.1
Morotz, G.M.2
Stoica, R.3
Tudor, E.L.4
Lau, K.F.5
Ackerley, S.6
Warley, A.7
Shaw, C.E.8
Miller, C.C.9
-
71
-
-
84859246580
-
Amyotrophic lateral sclerosis-associated mutant VAPBP56S perturbs calcium homeostasis to disrupt axonal transport of mitochondria
-
[71] Morotz, G.M., De Vos, K.J., Vagnoni, A., Ackerley, S., Shaw, C.E., Miller, C.C., Amyotrophic lateral sclerosis-associated mutant VAPBP56S perturbs calcium homeostasis to disrupt axonal transport of mitochondria. Hum. Mol. Genet. 21 (2012), 1979–1988.
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 1979-1988
-
-
Morotz, G.M.1
De Vos, K.J.2
Vagnoni, A.3
Ackerley, S.4
Shaw, C.E.5
Miller, C.C.6
-
72
-
-
84901925681
-
ER-mitochondria associations are regulated by the VAPB-PTPIP51 interaction and are disrupted by ALS/FTD-associated TDP-43
-
[72] Stoica, R., De Vos, K.J., Paillusson, S., Mueller, S., Sancho, R.M., Lau, K.F., Vizcay-Barrena, G., Lin, W.L., Xu, Y.F., Lewis, J., Dickson, D.W., Petrucelli, L., Mitchell, J.C., Shaw, C.E., Miller, C.C., ER-mitochondria associations are regulated by the VAPB-PTPIP51 interaction and are disrupted by ALS/FTD-associated TDP-43. Nat. Commun., 5, 2014, 3996.
-
(2014)
Nat. Commun.
, vol.5
, pp. 3996
-
-
Stoica, R.1
De Vos, K.J.2
Paillusson, S.3
Mueller, S.4
Sancho, R.M.5
Lau, K.F.6
Vizcay-Barrena, G.7
Lin, W.L.8
Xu, Y.F.9
Lewis, J.10
Dickson, D.W.11
Petrucelli, L.12
Mitchell, J.C.13
Shaw, C.E.14
Miller, C.C.15
-
73
-
-
84155163741
-
A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis
-
[73] Al-Saif, A., Al-Mohanna, F., Bohlega, S., A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis. Ann. Neurol. 70 (2011), 913–919.
-
(2011)
Ann. Neurol.
, vol.70
, pp. 913-919
-
-
Al-Saif, A.1
Al-Mohanna, F.2
Bohlega, S.3
-
74
-
-
84929069085
-
Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration
-
[74] Bernard-Marissal, N., Medard, J.J., Azzedine, H., Chrast, R., Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration. Brain 138 (2015), 875–890.
-
(2015)
Brain
, vol.138
, pp. 875-890
-
-
Bernard-Marissal, N.1
Medard, J.J.2
Azzedine, H.3
Chrast, R.4
-
75
-
-
48249102303
-
Role of axonal transport in neurodegenerative diseases
-
[75] De Vos, K.J., Grierson, A.J., Ackerley, S., Miller, C.C., Role of axonal transport in neurodegenerative diseases. Annu. Rev. Neurosci. 31 (2008), 151–173.
-
(2008)
Annu. Rev. Neurosci.
, vol.31
, pp. 151-173
-
-
De Vos, K.J.1
Grierson, A.J.2
Ackerley, S.3
Miller, C.C.4
-
76
-
-
84929000939
-
Emerging mechanisms of molecular pathology in ALS
-
[76] Peters, O.M., Ghasemi, M., Brown, R.H. Jr., Emerging mechanisms of molecular pathology in ALS. J. Clin. Investig. 125 (2015), 1767–1779.
-
(2015)
J. Clin. Investig.
, vol.125
, pp. 1767-1779
-
-
Peters, O.M.1
Ghasemi, M.2
Brown, R.H.3
-
77
-
-
84887891531
-
The intriguing case of motor neuron disease: ALS and SMA come closer
-
[77] Achsel, T., Barabino, S., Cozzolino, M., Carri, M.T., The intriguing case of motor neuron disease: ALS and SMA come closer. Biochem. Soc. Trans. 41 (2013), 1593–1597.
-
(2013)
Biochem. Soc. Trans.
, vol.41
, pp. 1593-1597
-
-
Achsel, T.1
Barabino, S.2
Cozzolino, M.3
Carri, M.T.4
-
78
-
-
84930434610
-
Oxr1 improves pathogenic cellular features of ALS-associated FUS and TDP-43 mutations
-
[78] Finelli, M.J., Liu, K.X., Wu, Y., Oliver, P.L., Davies, K.E., Oxr1 improves pathogenic cellular features of ALS-associated FUS and TDP-43 mutations. Hum. Mol. Genet. 24 (2015), 3529–3544.
-
(2015)
Hum. Mol. Genet.
, vol.24
, pp. 3529-3544
-
-
Finelli, M.J.1
Liu, K.X.2
Wu, Y.3
Oliver, P.L.4
Davies, K.E.5
-
79
-
-
33846137328
-
Mitochondrial damage modulates alternative splicing in neuronal cells: implications for neurodegeneration
-
[79] Maracchioni, A., Totaro, A., Angelini, D.F., Di Penta, A., Bernardi, G., Carri, M.T., Achsel, T., Mitochondrial damage modulates alternative splicing in neuronal cells: implications for neurodegeneration. J. Neurochem. 100 (2007), 142–153.
-
(2007)
J. Neurochem.
, vol.100
, pp. 142-153
-
-
Maracchioni, A.1
Totaro, A.2
Angelini, D.F.3
Di Penta, A.4
Bernardi, G.5
Carri, M.T.6
Achsel, T.7
-
80
-
-
79551536181
-
Mutant SOD1 and mitochondrial damage alter expression and splicing of genes controlling neuritogenesis in models of neurodegeneration
-
[80] Lenzken, S.C., Romeo, V., Zolezzi, F., Cordero, F., Lamorte, G., Bonanno, D., Biancolini, D., Cozzolino, M., Pesaresi, M.G., Maracchioni, A., Sanges, R., Achsel, T., Carri, M.T., Calogero, R.A., Barabino, S.M., Mutant SOD1 and mitochondrial damage alter expression and splicing of genes controlling neuritogenesis in models of neurodegeneration. Hum. Mutat. 32 (2011), 168–182.
-
(2011)
Hum. Mutat.
, vol.32
, pp. 168-182
-
-
Lenzken, S.C.1
Romeo, V.2
Zolezzi, F.3
Cordero, F.4
Lamorte, G.5
Bonanno, D.6
Biancolini, D.7
Cozzolino, M.8
Pesaresi, M.G.9
Maracchioni, A.10
Sanges, R.11
Achsel, T.12
Carri, M.T.13
Calogero, R.A.14
Barabino, S.M.15
-
81
-
-
47349113209
-
Inactivation of the SMN complex by oxidative stress
-
[81] Wan, L., Ottinger, E., Cho, S., Dreyfuss, G., Inactivation of the SMN complex by oxidative stress. Mol. Cell 31 (2008), 244–254.
-
(2008)
Mol. Cell
, vol.31
, pp. 244-254
-
-
Wan, L.1
Ottinger, E.2
Cho, S.3
Dreyfuss, G.4
-
82
-
-
84977622096
-
Oxidative stress triggers body-wide skipping of multiple exons of the spinal muscular atrophy gene
-
[82] Seo, J., Singh, N.N., Ottesen, E.W., Sivanesan, S., Shishimorova, M., Singh, R.N., Oxidative stress triggers body-wide skipping of multiple exons of the spinal muscular atrophy gene. PLoS One, 11, 2016, e0154390.
-
(2016)
PLoS One
, vol.11
, pp. e0154390
-
-
Seo, J.1
Singh, N.N.2
Ottesen, E.W.3
Sivanesan, S.4
Shishimorova, M.5
Singh, R.N.6
-
83
-
-
84928769147
-
Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD)
-
[83] Lattante, S., Ciura, S., Rouleau, G.A., Kabashi, E., Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD). Trends Genet. 31 (2015), 263–273.
-
(2015)
Trends Genet.
, vol.31
, pp. 263-273
-
-
Lattante, S.1
Ciura, S.2
Rouleau, G.A.3
Kabashi, E.4
|