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Volumn 25, Issue 6, 2015, Pages 1074-1087

Absence of alsin function leads to corticospinal motor neuron vulnerability via novel disease mechanisms

Author keywords

[No Author keywords available]

Indexed keywords

ALSIN 2; PROTEIN; UNCLASSIFIED DRUG; ALS2 PROTEIN, MOUSE; GUANINE NUCLEOTIDE EXCHANGE FACTOR;

EID: 84960126944     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv631     Document Type: Article
Times cited : (54)

References (57)
  • 1
    • 0034785509 scopus 로고    scopus 로고
    • The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis
    • Yang, Y., Hentati, A., Deng, H.X., Dabbagh, O., Sasaki, T., Hirano, M., Hung, W.Y., Ouahchi, K., Yan, J., Azim, A.C. et al. (2001) The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat. Genet., 29, 160-165.
    • (2001) Nat. Genet , vol.29 , pp. 160-165
    • Yang, Y.1    Hentati, A.2    Deng, H.X.3    Dabbagh, O.4    Sasaki, T.5    Hirano, M.6    Hung, W.Y.7    Ouahchi, K.8    Yan, J.9    Azim, A.C.10
  • 4
    • 84901016167 scopus 로고    scopus 로고
    • A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis
    • Eker, H.K., Unlu, S.E., Al-Salmi, F. and Crosby, A.H. (2014) A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis. Eur. J. Med. Genet., 57, 275-278.
    • (2014) Eur. J. Med. Genet , vol.57 , pp. 275-278
    • Eker, H.K.1    Unlu, S.E.2    Al-Salmi, F.3    Crosby, A.H.4
  • 6
    • 84929494257 scopus 로고    scopus 로고
    • Rho guanine nucleotide exchange factors involved in cyclic-stretch-induced reorientation of vascular endothelial cells
    • Abiko, H., Fujiwara, S., Ohashi, K., Hiatari, R., Mashiko, T., Sakamoto, N., Sato, M. and Mizuno, K. (2015) Rho guanine nucleotide exchange factors involved in cyclic-stretch-induced reorientation of vascular endothelial cells. J. Cell Sci., 128, 1683-1695.
    • (2015) J. Cell Sci , vol.128 , pp. 1683-1695
    • Abiko, H.1    Fujiwara, S.2    Ohashi, K.3    Hiatari, R.4    Mashiko, T.5    Sakamoto, N.6    Sato, M.7    Mizuno, K.8
  • 7
    • 0026419320 scopus 로고
    • Catalysis of guanine nucleotide exchange on Ran by the mitotic regulator RCC1
    • Bischoff, F.R. and Ponstingl, H. (1991) Catalysis of guanine nucleotide exchange on Ran by the mitotic regulator RCC1. Nature, 354, 80-82.
    • (1991) Nature , vol.354 , pp. 80-82
    • Bischoff, F.R.1    Ponstingl, H.2
  • 8
    • 14244264186 scopus 로고    scopus 로고
    • A Rac1/phosphatidylinositol 3-kinase/Akt3 anti-apoptotic pathway, triggered by AlsinLF, the product of the ALS2 gene, antagonizes Cu/Zn-superoxide dismutase (SOD1) mutant-induced motoneuronal cell death
    • Kanekura, K., Hashimoto, Y., Kita, Y., Sasabe, J., Aiso, S., Nishimoto, I. and Matsuoka, M. (2005) A Rac1/phosphatidylinositol 3-kinase/Akt3 anti-apoptotic pathway, triggered by AlsinLF, the product of the ALS2 gene, antagonizes Cu/Zn-superoxide dismutase (SOD1) mutant-induced motoneuronal cell death. J. Biol. Chem., 280, 4532-4543.
    • (2005) J. Biol. Chem , vol.280 , pp. 4532-4543
    • Kanekura, K.1    Hashimoto, Y.2    Kita, Y.3    Sasabe, J.4    Aiso, S.5    Nishimoto, I.6    Matsuoka, M.7
  • 9
    • 2642536202 scopus 로고    scopus 로고
    • Alsin is a Rab5 and Rac1 guanine nucleotide exchange factor
    • Topp, J.D., Gray, N.W., Gerard, R.D. and Horazdovsky, B.F. (2004) Alsin is a Rab5 and Rac1 guanine nucleotide exchange factor. J. Biol. Chem., 279, 24612-24623.
    • (2004) J. Biol. Chem , vol.279 , pp. 24612-24623
    • Topp, J.D.1    Gray, N.W.2    Gerard, R.D.3    Horazdovsky, B.F.4
  • 12
    • 0035257013 scopus 로고    scopus 로고
    • Rab proteins as membrane organizers
    • Zerial, M. and McBride, H. (2001) Rab proteins as membrane organizers. Nat. Rev. Mol. Cell Biol., 2, 107-117.
    • (2001) Nat. Rev. Mol. Cell Biol , vol.2 , pp. 107-117
    • Zerial, M.1    McBride, H.2
  • 14
    • 31144448704 scopus 로고    scopus 로고
    • Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking
    • Hadano, S., Benn, S.C., Kakuta, S., Otomo, A., Sudo, K., Kunita, R., Suzuki-Utsunomiya, K., Mizumura, H., Shefner, J.M., Cox, G.A. et al. (2006) Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking. Hum. Mol. Genet., 15, 233-250.
    • (2006) Hum. Mol. Genet , vol.15 , pp. 233-250
    • Hadano, S.1    Benn, S.C.2    Kakuta, S.3    Otomo, A.4    Sudo, K.5    Kunita, R.6    Suzuki-Utsunomiya, K.7    Mizumura, H.8    Shefner, J.M.9    Cox, G.A.10
  • 15
    • 69049112930 scopus 로고    scopus 로고
    • Regulation of endosomal motility and degradation by amyotrophic lateral sclerosis 2/alsin
    • Lai, C., Xie, C., Shim, H., Chandran, J., Howell, B.W. and Cai, H. (2009) Regulation of endosomal motility and degradation by amyotrophic lateral sclerosis 2/alsin. Mol. Brain, 2, 23.
    • (2009) Mol. Brain , vol.2 , pp. 23
    • Lai, C.1    Xie, C.2    Shim, H.3    Chandran, J.4    Howell, B.W.5    Cai, H.6
  • 19
    • 23844448652 scopus 로고    scopus 로고
    • Loss of ALS2 function is insufficient to trigger motor neuron degeneration in knock-out mice but predisposes neurons to oxidative stress
    • Cai, H., Lin, X., Xie, C., Laird, F.M., Lai, C., Wen, H., Chiang, H.C., Shim, H., Farah, M.H., Hoke, A. et al. (2005) Loss of ALS2 function is insufficient to trigger motor neuron degeneration in knock-out mice but predisposes neurons to oxidative stress. J. Neurosci., 25, 7567-7574.
    • (2005) J. Neurosci , vol.25 , pp. 7567-7574
    • Cai, H.1    Lin, X.2    Xie, C.3    Laird, F.M.4    Lai, C.5    Wen, H.6    Chiang, H.C.7    Shim, H.8    Farah, M.H.9    Hoke, A.10
  • 20
    • 84877146858 scopus 로고    scopus 로고
    • eGFP expression under UCHL1 promoter genetically labels corticospinal motor neurons and a subpopulation of degeneration-resistant spinal motor neurons in an ALS mouse model
    • Yasvoina, M.V., Genc, B., Jara, J.H., Sheets, P.L., Quinlan, K.A., Milosevic, A., Shepherd, G.M., Heckman, C.J. and Ozdinler, P. H. (2013) eGFP expression under UCHL1 promoter genetically labels corticospinal motor neurons and a subpopulation of degeneration-resistant spinal motor neurons in an ALS mouse model. J. Neurosci., 33, 7890-7904.
    • (2013) J. Neurosci , vol.33 , pp. 7890-7904
    • Yasvoina, M.V.1    Genc, B.2    Jara, J.H.3    Sheets, P.L.4    Quinlan, K.A.5    Milosevic, A.6    Shepherd, G.M.7    Heckman, C.J.8    Ozdinler, P.H.9
  • 21
    • 12344252023 scopus 로고    scopus 로고
    • Neuronal subtype-specific genes that control corticospinal motor neuron development in vivo
    • Arlotta, P., Molyneaux, B.J., Chen, J., Inoue, J., Kominami, R. and Macklis, J.D. (2005) Neuronal subtype-specific genes that control corticospinal motor neuron development in vivo. Neuron, 45, 207-221.
    • (2005) Neuron , vol.45 , pp. 207-221
    • Arlotta, P.1    Molyneaux, B.J.2    Chen, J.3    Inoue, J.4    Kominami, R.5    Macklis, J.D.6
  • 22
    • 84940442582 scopus 로고    scopus 로고
    • Corticospinal motor neurons are susceptible to increased ER stress and display profound degeneration in the absence of UCHL1 function
    • Jara, J.H., Genc, B., Cox, G.A., Bohn, M.C., Roos, R.P., Macklis, J. D., Ulupinar, E. and Ozdinler, P.H. (2015) Corticospinal motor neurons are susceptible to increased ER stress and display profound degeneration in the absence of UCHL1 function. Cereb. Cortex, 25, 4259-4272.
    • (2015) Cereb. Cortex , vol.25 , pp. 4259-4272
    • Jara, J.H.1    Genc, B.2    Cox, G.A.3    Bohn, M.C.4    Roos, R.P.5    Macklis, J.D.6    Ulupinar, E.7    Ozdinler, P.H.8
  • 23
    • 84861678410 scopus 로고    scopus 로고
    • AAV2 mediated retrograde transduction of corticospinal motor neurons reveals initial and selective apical dendrite degeneration in ALS
    • Jara, J.H., Villa, S.R., Khan, N.A., Bohn, M.C. and Ozdinler, P.H. (2012) AAV2 mediated retrograde transduction of corticospinal motor neurons reveals initial and selective apical dendrite degeneration in ALS. Neurobiol. Dis., 47, 174-183.
    • (2012) Neurobiol. Dis , vol.47 , pp. 174-183
    • Jara, J.H.1    Villa, S.R.2    Khan, N.A.3    Bohn, M.C.4    Ozdinler, P.H.5
  • 24
    • 84941567317 scopus 로고    scopus 로고
    • The receptor proteins: pivotal roles in selective autophagy
    • Xu, Z., Yang, L., Xu, S., Zhang, Z. and Cao, Y. (2015) The receptor proteins: pivotal roles in selective autophagy. Acta Biochim. Biophys. Sin., 47, 571-580.
    • (2015) Acta Biochim. Biophys. Sin , vol.47 , pp. 571-580
    • Xu, Z.1    Yang, L.2    Xu, S.3    Zhang, Z.4    Cao, Y.5
  • 25
    • 84940783815 scopus 로고    scopus 로고
    • Expanding the ubiquitin code through post-translational modification
    • Herhaus, L. and Dikic, I. (2015) Expanding the ubiquitin code through post-translational modification. EMBO Rep., 16, 1071-1083.
    • (2015) EMBO Rep , vol.16 , pp. 1071-1083
    • Herhaus, L.1    Dikic, I.2
  • 26
    • 78649300971 scopus 로고    scopus 로고
    • p62/SQSTM1 is required for Parkin-induced mitochondrial clustering but not mitophagy; VDAC1 is dispensable for both
    • Narendra, D., Kane, L.A., Hauser, D.N., Fearnley, I.M. and Youle, R.J. (2010) p62/SQSTM1 is required for Parkin-induced mitochondrial clustering but not mitophagy; VDAC1 is dispensable for both. Autophagy, 6, 1090-1106.
    • (2010) Autophagy , vol.6 , pp. 1090-1106
    • Narendra, D.1    Kane, L.A.2    Hauser, D.N.3    Fearnley, I.M.4    Youle, R.J.5
  • 27
    • 84857834456 scopus 로고    scopus 로고
    • Rab1A over-expression prevents Golgi apparatus fragmentation and partially corrects motor deficits in an alphasynuclein based rat model of Parkinson's disease
    • Coune, P.G., Bensadoun, J.C., Aebischer, P. and Schneider, B.L. (2011) Rab1A over-expression prevents Golgi apparatus fragmentation and partially corrects motor deficits in an alphasynuclein based rat model of Parkinson's disease. J. Park. Dis., 4, 373-387.
    • (2011) J. Park. Dis , vol.4 , pp. 373-387
    • Coune, P.G.1    Bensadoun, J.C.2    Aebischer, P.3    Schneider, B.L.4
  • 28
    • 0034961104 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis: pathogenesis
    • Brown, R.H. Jr and Robberecht, W. (2001) Amyotrophic lateral sclerosis: pathogenesis. Semin. Neurol., 21, 131-139.
    • (2001) Semin. Neurol , vol.21 , pp. 131-139
    • Brown, R.H.1    Robberecht, W.2
  • 29
    • 0036699080 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia
    • Fink, J.K. (2002) Hereditary spastic paraplegia. Neurol. Clin., 20, 711-726.
    • (2002) Neurol. Clin , vol.20 , pp. 711-726
    • Fink, J.K.1
  • 30
    • 31544466788 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia
    • Fink, J.K. (2006) Hereditary spastic paraplegia. Curr. Neurol. Neurosci., 6, 65-76.
    • (2006) Curr. Neurol. Neurosci , vol.6 , pp. 65-76
    • Fink, J.K.1
  • 31
    • 0142122897 scopus 로고    scopus 로고
    • NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).Am
    • Rainier, S., Chai, J.H., Tokarz, D., Nicholls, R.D. and Fink, J.K. (2003) NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).Am. J. Hum. Genet., 73, 967-971.
    • (2003) J. Hum. Genet , vol.73 , pp. 967-971
    • Rainier, S.1    Chai, J.H.2    Tokarz, D.3    Nicholls, R.D.4    Fink, J.K.5
  • 32
    • 34447531775 scopus 로고    scopus 로고
    • The Rab5 activator ALS2/alsin acts as a novel Rac1 effector through Rac1-activated endocytosis
    • Kunita, R., Otomo, A., Mizumura, H., Suzuki-Utsunomiya, K., Hadano, S. and Ikeda, J.E. (2007) The Rab5 activator ALS2/alsin acts as a novel Rac1 effector through Rac1-activated endocytosis. J. Biol. Chem., 282, 16599-16611.
    • (2007) J. Biol. Chem , vol.282 , pp. 16599-16611
    • Kunita, R.1    Otomo, A.2    Mizumura, H.3    Suzuki-Utsunomiya, K.4    Hadano, S.5    Ikeda, J.E.6
  • 35
    • 46149116992 scopus 로고    scopus 로고
    • Descending pathways in motor control
    • Lemon, R.N. (2008) Descending pathways in motor control. Annu. Rev. Neurosci., 31, 195-218.
    • (2008) Annu. Rev. Neurosci , vol.31 , pp. 195-218
    • Lemon, R.N.1
  • 37
    • 84995539982 scopus 로고    scopus 로고
    • Misleading mouse studies waste medical resources
    • Hayden, E.C. (2014) Misleading mouse studies waste medical resources. Nature, doi:10.1038/nature.2014.14938.
    • (2014) Nature
    • Hayden, E.C.1
  • 38
    • 77952741735 scopus 로고    scopus 로고
    • Modelling neurodegeneration in Saccharomyces cerevisiae: why cook with baker's yeast?
    • Khurana, V. and Lindquist, S. (2010) Modelling neurodegeneration in Saccharomyces cerevisiae: why cook with baker's yeast? Nat. Rev. Neurosci., 11, 436-449.
    • (2010) Nat. Rev. Neurosci , vol.11 , pp. 436-449
    • Khurana, V.1    Lindquist, S.2
  • 41
    • 58149314211 scopus 로고    scopus 로고
    • Parkin is recruited selectively to impaired mitochondria and promotes their autophagy
    • Narendra, D., Tanaka, A., Suen, D.F. and Youle, R.J. (2008) Parkin is recruited selectively to impaired mitochondria and promotes their autophagy. J. Cell Biol., 183, 795-803.
    • (2008) J. Cell Biol , vol.183 , pp. 795-803
    • Narendra, D.1    Tanaka, A.2    Suen, D.F.3    Youle, R.J.4
  • 42
    • 77950499364 scopus 로고    scopus 로고
    • Parkin-mediated selectivemitochondrial autophagy, mitophagy: Parkin purges damaged organelles from the vital mitochondrial network
    • Tanaka, A. (2010) Parkin-mediated selectivemitochondrial autophagy, mitophagy: Parkin purges damaged organelles from the vital mitochondrial network. FEBS Lett., 584, 1386-1392.
    • (2010) FEBS Lett , vol.584 , pp. 1386-1392
    • Tanaka, A.1
  • 43
    • 79961142199 scopus 로고    scopus 로고
    • p62/SQSTM1 in autophagic clearance of a non-ubiquitylated substrate
    • Watanabe, Y. and Tanaka, M. (2011) p62/SQSTM1 in autophagic clearance of a non-ubiquitylated substrate. J. Cell Sci., 124, 2692-2701.
    • (2011) J. Cell Sci , vol.124 , pp. 2692-2701
    • Watanabe, Y.1    Tanaka, M.2
  • 44
    • 0346727127 scopus 로고    scopus 로고
    • Protein degradation and protection against misfolded or damaged proteins
    • Goldberg, A.L. (2003) Protein degradation and protection against misfolded or damaged proteins. Nature, 426, 895-899.
    • (2003) Nature , vol.426 , pp. 895-899
    • Goldberg, A.L.1
  • 47
    • 84894387057 scopus 로고    scopus 로고
    • Abnormal mitochondrial transport and morphology are common pathological denominators in SOD1 and TDP43 ALS mouse models
    • Magrane, J., Cortez, C., Gan, W.B. and Manfredi, G. (2014) Abnormal mitochondrial transport and morphology are common pathological denominators in SOD1 and TDP43 ALS mouse models. Hum. Mol. Genet., 23, 1413-1424.
    • (2014) Hum. Mol. Genet , vol.23 , pp. 1413-1424
    • Magrane, J.1    Cortez, C.2    Gan, W.B.3    Manfredi, G.4
  • 49
    • 0034653512 scopus 로고    scopus 로고
    • Fragmentation of the Golgi apparatus of the anterior horn cells in patients with familial amyotrophic lateral sclerosis with SOD1 mutations and posterior column involvement
    • Fujita, Y., Okamoto, K., Sakurai, A., Gonatas, N.K. and Hirano, A. (2000) Fragmentation of the Golgi apparatus of the anterior horn cells in patients with familial amyotrophic lateral sclerosis with SOD1 mutations and posterior column involvement. J. Neurol. Sci., 174, 137-140.
    • (2000) J. Neurol. Sci , vol.174 , pp. 137-140
    • Fujita, Y.1    Okamoto, K.2    Sakurai, A.3    Gonatas, N.K.4    Hirano, A.5
  • 50
    • 0029890685 scopus 로고    scopus 로고
    • The Golgi apparatus of spinal cord motor neurons in transgenic mice expressing mutant Cu, Zn superoxide dismutase becomes fragmented in early, preclinical stages of the disease
    • Mourelatos, Z., Gonatas, N.K., Stieber, A., Gurney, M.E. and Dal Canto, M.C. (1996) The Golgi apparatus of spinal cord motor neurons in transgenic mice expressing mutant Cu, Zn superoxide dismutase becomes fragmented in early, preclinical stages of the disease. Proc. Natl. Acad. Sci. USA, 93, 5472-5477.
    • (1996) Proc. Natl. Acad. Sci. USA , vol.93 , pp. 5472-5477
    • Mourelatos, Z.1    Gonatas, N.K.2    Stieber, A.3    Gurney, M.E.4    Dal Canto, M.C.5
  • 51
    • 77952887219 scopus 로고    scopus 로고
    • Sublayer-specificmicrocircuits of corticospinal and corticostriatal neurons inmotor cortex
    • Anderson, C.T., Sheets, P.L., Kiritani, T. and Shepherd, G.M. (2010) Sublayer-specificmicrocircuits of corticospinal and corticostriatal neurons inmotor cortex. Nat. Neurosci., 13, 739-744.
    • (2010) Nat. Neurosci , vol.13 , pp. 739-744
    • Anderson, C.T.1    Sheets, P.L.2    Kiritani, T.3    Shepherd, G.M.4
  • 52
    • 84907291874 scopus 로고    scopus 로고
    • Retrograde labeling, transduction, and genetic targeting allow cellular analysis of corticospinal motor neurons: implications in health and disease
    • Jara, J.H., Genc, B., Klessner, J.L. and Ozdinler, P.H. (2014) Retrograde labeling, transduction, and genetic targeting allow cellular analysis of corticospinal motor neurons: implications in health and disease. Front. Neuroanat., 8, 16.
    • (2014) Front. Neuroanat , vol.8 , pp. 16
    • Jara, J.H.1    Genc, B.2    Klessner, J.L.3    Ozdinler, P.H.4
  • 53
    • 79952754297 scopus 로고    scopus 로고
    • Corticospinal motor neurons and related subcerebral projection neurons undergo early and specific neurodegeneration in hSOD1G(9)(3)A transgenic ALS mice
    • Ozdinler, P.H., Benn, S., Yamamoto, T.H., Guzel, M., Brown, R. H. Jr and Macklis, J.D. (2011) Corticospinal motor neurons and related subcerebral projection neurons undergo early and specific neurodegeneration in hSOD1G(9)(3)A transgenic ALS mice. J. Neurosci., 31, 4166-4177.
    • (2011) J. Neurosci , vol.31 , pp. 4166-4177
    • Ozdinler, P.H.1    Benn, S.2    Yamamoto, T.H.3    Guzel, M.4    Brown, R.H.5    Macklis, J.D.6
  • 54
    • 84911408927 scopus 로고    scopus 로고
    • Delayed disease onset and extended survival in the SOD1G93A rat model of amyotrophic lateral sclerosis after suppression of mutant SOD1 in the motor cortex
    • Thomsen, G.M., Gowing, G., Latter, J., Chen, M., Vit, J.P., Staggenborg, K., Avalos, P., Alkaslasi, M., Ferraiuolo, L., Likhite, S. et al. (2014) Delayed disease onset and extended survival in the SOD1G93A rat model of amyotrophic lateral sclerosis after suppression of mutant SOD1 in the motor cortex. J. Neurosci., 34, 15587-15600.
    • (2014) J. Neurosci , vol.34 , pp. 15587-15600
    • Thomsen, G.M.1    Gowing, G.2    Latter, J.3    Chen, M.4    Vit, J.P.5    Staggenborg, K.6    Avalos, P.7    Alkaslasi, M.8    Ferraiuolo, L.9    Likhite, S.10
  • 57
    • 80051940280 scopus 로고    scopus 로고
    • Simple Neurite Tracer: open source software for reconstruction, visualization and analysis of neuronal processes
    • Longair, M.H., Baker, D.A. and Armstrong, J.D. (2011) Simple Neurite Tracer: open source software for reconstruction, visualization and analysis of neuronal processes. Bioinformatics, 27, 2453-2454.
    • (2011) Bioinformatics , vol.27 , pp. 2453-2454
    • Longair, M.H.1    Baker, D.A.2    Armstrong, J.D.3


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