Molecular pathology and genetic advances in amyotrophic lateral sclerosis: An emerging molecular pathway and the significance of glial pathology

Acta Neuropathologica

Volumn 122, Issue 6, 2011, Pages 657-671

  Ince, Paul G ^a   Highley, J Robin ^a   Kirby, Janine ^a   Wharton, Stephen B ^a   Takahashi, Hitoshi ^b   Strong, Michael J ^c   Shaw, Pamela J ^a  

^a UNIVERSITY OF SHEFFIELD   (United Kingdom)

^b NIIGATA UNIVERSITY   (Japan)

^c ROBARTS RESEARCH INSTITUTE   (Canada)

Author keywords

Amyotrophic lateral sclerosis; Astrocyte; C9ORF72; Frontotemporal dementia; FUS; Genetics; Glia; Molecular pathology; Motor neuron disease; Oligodendroglia; SOD1; TARDBP; TDP 43; TDP proteinopathy

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE; TAR DNA BINDING PROTEIN;

AMYOTROPHIC LATERAL SCLEROSIS; ASTROCYTOSIS; C90RF72 GENE; DISEASE ASSOCIATION; FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS; FRONTOTEMPORAL DEMENTIA; FUSED IN SARCOMA GENE; GENE; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE TRANSLOCATION; GENETIC VARIABILITY; GLIA; HUMAN; MOLECULAR PATHOLOGY; MOTOR NEURON DISEASE; NERVE DEGENERATION; NEUROPATHOLOGY; NONHUMAN; PRIORITY JOURNAL; PROGRANULIN GENE; REVIEW; RNA METABOLISM; RNA PROCESSING; SPORADIC AMYOTROPHIC LATERAL SCLEROSIS; TARDBP GENE; TDP 43 PROTEINOPATHY; VESICLE ASSOCIATED MEMBRANE PROTEIN ASSOCIATED PROTEIN B GENE;

AMYOTROPHIC LATERAL SCLEROSIS; DNA-BINDING PROTEINS; HUMANS; MUTATION; NEUROGLIA; PATHOLOGY, MOLECULAR; RNA-BINDING PROTEIN FUS; SIGNAL TRANSDUCTION;

EID: 82355170711     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-011-0913-0     Document Type: Review

References (168)

1. MM Abhyankar C Urekar PP Reddi 2007 A novel CpG-free vertebrate insulator silences the testis-specific SP-10 gene in somatic tissues: role for TDP-43 in insulator function J Biol Chem 282 36143 36154 17932037 1:CAS:528: DC%2BD2sXhsVSgsbnP 10.1074/jbc.M705811200
2. A Al-Chalabi PM Andersen P Nilsson, et al. 1999 Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis Human Mol Genet 8 157 164 1:CAS:528:DyaK1MXht12isrg%3D 10.1093/hmg/8.2.157 (Pubitemid 29054257)
3. A Al-Chalabi F Fang MF Hanby, et al. 2010 An estimate of amyotrophic lateral sclerosis heritability using twin data J Neurol Neurosurg Psychiatry 81 1324 1326 20861059 1:STN:280:DC%2BC3cbnsV2ntA%3D%3D 10.1136/jnnp.2010.207464
4. MD Alexander BJ Traynor N Miller, et al. 2002 "True" sporadic ALS associated with a novel SOD-1 mutation Ann Neurol 52 680 683 12402272 1:CAS:528:DC%2BD38XovFKktb8%3D 10.1002/ana.10369 (Pubitemid 35246878)
5. PM Andersen 2006 Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene Curr Neurol Neurosci Rep 6 37 46 16469270 1:CAS:528:DC%2BD28XhsFSrsrw%3D 10.1007/s11910-996-0008-9 (Pubitemid 43154251)
6. P Anderson N Kedersha 2008 Stress granules: the Tao of RNA triage Trends Biochem Sci 33 141 150 18291657 1:CAS:528:DC%2BD1cXjtVKrt7k%3D 10.1016/j.tibs.2007.12.003
7. J Anneser C Chahli P Ince, et al. 2004 Glial proliferation and metabotropic glutamate receptor expression in amyotrophic lateral sclerosis J Neuropathol Exp Neurol 63 831 840 15330338 1:CAS:528:DC%2BD2cXntlWitbs%3D (Pubitemid 39038505)
8. J Anneser M Cookson P Ince, et al. 2001 Glial cells of the spinal cord and subcortical white matter up-regulate neuronal nitric oxide synthase in sporadic amyotrophic lateral sclerosis Exp Neurol 171 418 421 11573993 1:CAS:528:DC%2BD3MXntV2ntr4%3D 10.1006/exnr.2001.7756 (Pubitemid 32955302)
9. T Arai M Hasegawa H Akiyama, et al. 2006 TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis Biochem Biophys Res Commun 351 602 611 17084815 1:CAS:528:DC%2BD28Xht1SmsbbJ 10.1016/j.bbrc.2006.10.093 (Pubitemid 44708852)
10. YM Ayala L De Conti SE Avendano-Vazquez, et al. 2011 TDP-43 regulates its mRNA levels through a negative feedback loop EMBO J 30 277 288 21131904 1:CAS:528:DC%2BC3cXhsFSku7jI 10.1038/emboj.2010.310
11. YM Ayala T Misteli FE Baralle 2008 TDP-43 regulates retinoblastoma protein phosphorylation through the repression of cyclin-dependent kinase 6 expression Proc Natl Acad Sci USA 105 3785 3789 18305152 1:CAS:528: DC%2BD1cXjs1Oitbc%3D 10.1073/pnas.0800546105 (Pubitemid 351723476)
12. YM Ayala P Zago A D'Ambrogio, et al. 2008 Structural determinants of the cellular localization and shuttling of TDP-43 J Cell Sci 121 3778 37785 18957508 1:CAS:528:DC%2BD1cXhsFaktLjM 10.1242/jcs.038950
13. M Baker IR Mackenzie SM Pickering-Brown, et al. 2006 Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17 Nature 442 916 919 16862116 1:CAS:528:DC%2BD28XosVOgurc%3D 10.1038/nature05016 (Pubitemid 44285946)
14. SJ Barmada G Skibinski E Korb, et al. 2010 Cytoplasmic mislocalization of TDP-43 is toxic to neurons and enhanced by a mutation associated with familial amyotrophic lateral sclerosis J Neurosci 30 639 649 20071528 1:CAS:528:DC%2BC3cXhtFahtLw%3D 10.1523/JNEUROSCI.4988-09.2010
15. VV Belzil H Daoud A Desjarlais, et al. 2010 Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis Neurobiol Aging 32 555.e13 555.e14 10.1016/j.neurobiolaging.2010.10.001 1:CAS:528:DC%2BC3MXjvVOqtL4%3D
16. D Blackburn S Sargsyan P Monk, et al. 2009 Astrocyte function and role in motor neuron disease: a future therapeutic target? Glia 57 1251 1264 19373940 10.1002/glia.20848
17. B Borroni C Bonvicini A Alberici, et al. 2009 Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease Hum Mutat 30 E974 E983 19655382 1:STN:280:DC%2BD1Mjislynuw%3D%3D 10.1002/humu.21100
18. GM Borthwick RW Taylor TJ Walls, et al. 2006 Motor neuron disease in a patient with a mitochondrial tRNAIle mutation Ann Neurol 59 570 574 16358336 1:CAS:528:DC%2BD28XjtV2ltrc%3D 10.1002/ana.20758 (Pubitemid 43358082)
19. M Broe J Kril G Halliday 2004 Astrocytic degeneration relates to the severity of disease in frontotemporal dementia Brain 127 2214 2220 15282215 10.1093/brain/awh250 (Pubitemid 39382230)
20. E Buratti L De Conti C Stuani, et al. 2010 Nuclear factor TDP-43 can affect selected microRNA levels FEBS J 277 2268 2281 20423455 1:CAS:528:DC%2BC3cXmtlaku74%3D 10.1111/j.1742-4658.2010.07643.x
21. E Buratti T Dork E Zuccato, et al. 2001 Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping EMBO J 20 1774 1784 11285240 1:CAS:528:DC%2BD3MXivVCrs7o%3D 10.1093/emboj/20.7.1774 (Pubitemid 32299413)
22. Byrne S, Walsh C, Lynch C, et al (2010) Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatr. doi: 10.1136/jnnp.2010.224501
23. NJ Cairns EH Bigio IR Mackenzie, et al. 2007 Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration Acta Neuropathol 114 5 22 17579875 10.1007/s00401-007-0237-2 (Pubitemid 47029055)
24. YZ Chen CL Bennett HM Huynh, et al. 2004 DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4) Am J Hum Genet 74 1128 1135 15106121 1:CAS:528:DC%2BD2cXks1Cru7s%3D 10.1086/421054 (Pubitemid 38669312)
25. PM Chiang J Ling YH Jeong, et al. 2010 Deletion of TDP-43 down-regulates Tbc1d1, a gene linked to obesity, and alters body fat metabolism Proc Natl Acad Sci USA 107 16320 16324 20660762 1:CAS:528:DC%2BC3cXhtF2gtrnK 10.1073/pnas.1002176107
26. A Chio A Calvo C Moglia, et al. 2010 A de novo missense mutation of the FUS gene in a "true" sporadic ALS case Neurobiol Aging 32 553.e23 553.e26 10.1016/j.neurobiolaging.2010.05.016 1:CAS:528:DC%2BC3MXjvVOqt7s%3D
27. CY Chow JE Landers SK Bergren, et al. 2009 Deleterious variants of FIG 4, a phosphoinositide phosphatase, in patients with ALS Am J Hum Genet 84 85 88 19118816 1:CAS:528:DC%2BD1MXpsFartw%3D%3D 10.1016/j.ajhg.2008.12.010
28. K Colodner R Montana D Anthony, et al. 2005 Proliferative potential of human astrocytes J Neuropathol Exp Neurol 64 19 163
29. C Colombrita E Zennaro C Fallini, et al. 2009 TDP-43 is recruited to stress granules in conditions of oxidative insult J Neurochem 111 1051 1061 19765185 1:CAS:528:DC%2BD1MXhsVSkurzF 10.1111/j.1471-4159.2009.06383.x
30. GP Comi A Bordoni S Salani, et al. 1998 Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease Ann Neurol 43 110 116 9450776 1:CAS:528:DyaK1cXnslKjuw%3D%3D 10.1002/ana.410430119 (Pubitemid 28124656)
31. LE Cox L Ferraiuolo EF Goodall, et al. 2010 Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS) PLoS One 5 e9872 20352044 10.1371/journal.pone.0009872 1:CAS:528:DC%2BC3cXkt1WisL8%3D
32. ME Cudkowicz D McKenna-Yasek C Chen, et al. 1998 Limited corticospinal tract involvement in amyotrophic lateral sclerosis subjects with the A4V mutation in the copper/zinc superoxide dismutase gene Ann Neurol 43 703 710 9629839 1:STN:280:DyaK1c3ptFOqsw%3D%3D 10.1002/ana.410430604 (Pubitemid 28280213)
33. M DeJesus-Hernandez IR Mackenzie BF Boeve, et al. 2011 Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS Neuron 72 1 12 10.1016/j.neuron.2011.09.011 1:CAS:528: DC%2BC3MXhtlKrtL%2FP
34. Deng H-X, Chen W, Hong S-T et al (2011) Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature. doi: 10.1038/nature10353 (e-pub)
35. H-X Deng H Zhai EH Bigio, et al. 2010 FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis Ann Neurol 67 739 748 20517935 1:CAS:528:DC%2BC3cXosVWktbk%3D 10.1001/archneurol.2010.101
36. CM Dewey B Cenik CF Sephton, et al. 2011 TDP-43 is directed to stress granules by sorbitol, a novel physiological osmotic and oxidative stressor Mol Cell Biol 31 1098 1108 21173160 1:CAS:528:DC%2BC3MXhtVSmsLvO 10.1128/MCB.01279-10
37. D Dormann A Capell AM Carlson, et al. 2009 Proteolytic processing of TAR DNA binding protein-43 by caspases produces C-terminal fragments with disease defining properties independent of progranulin J Neurochem 110 1082 1094 19522733 1:CAS:528:DC%2BD1MXptlensb8%3D 10.1111/j.1471-4159.2009.06211.x
38. T Dunckley MJ Huentelman DW Craig, et al. 2007 Whole-genome analysis of sporadic amyotrophic lateral sclerosis N Engl J Med 357 775 788 17671248 1:CAS:528:DC%2BD2sXpsF2gtL0%3D 10.1056/NEJMoa070174 (Pubitemid 47295644)
39. T Fellin 2009 Communication between neurons and astrocytes: relevance to the modulation of synaptic and network activity J Neurochem 108 533 544 19187090 1:CAS:528:DC%2BD1MXhvFGhsLs%3D 10.1111/j.1471-4159.2008.05830.x
40. FC Fiesel A Voigt SS Weber, et al. 2010 Knockdown of transactive response DNA-binding protein (TDP-43) downregulates histone deacetylase 6 EMBO J 29 209 221 19910924 1:CAS:528:DC%2BD1MXhtlKmsL3E 10.1038/emboj.2009.324
41. DA Figlewicz A Krizus MG Martinoli, et al. 1994 Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis Human Mol Genet 3 1757 1761 1:CAS:528:DyaK2cXmslels74%3D 10.1093/hmg/3.10.1757 (Pubitemid 24310467)
42. K Forsberg PM Andersen SL Marklund T Brannstrom 2011 Glial nuclear aggregates of superoxide dismutase-1 are regularly present in patients with amyotrophic lateral sclerosis Acta Neuropathol 121 623 634 21287393 1:CAS:528:DC%2BC3MXlsVKqt7k%3D 10.1007/s00401-011-0805-3
43. BD Freibaum AA High R Chitta, et al. 2010 Global analysis of TDP-43 interacting proteins reveals strong association with RNA splicing and translation machinery J Proteome Res 9 1104 1120 20020773 1:CAS:528: DC%2BC3cXksFeiug%3D%3D 10.1021/pr901076y
44. Y Fujita S Fujita M Takatama, et al. 2011 Numerous FUS-positive inclusions in an elderly woman with motor neuron disease Neuropathology 31 170 176 20667018 10.1111/j.1440-1789.2010.01146.x
45. F Gese VM Lee JQ Trojanowski 2010 Amyotrophic lateral sclerosis and frontotemporal lobar degeneration: a spectrum of TDP-43 proteinopathies Neuropathology 30 103 112 10.1111/j.1440-1789.2009.01091.x
46. F Geser B Stein M Partain, et al. 2011 Motor neuron disease clinically limited to the lower motor neuron is a diffuse TDP-43 proteinopathy Acta Neuropathol 121 509 517 21225272 10.1007/s00401-011-0797-z
47. MJ Greenway PM Andersen C Russ, et al. 2006 ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis Nat Genet 38 411 413 16501576 1:CAS:528:DC%2BD28XivFSht78%3D 10.1038/ng1742
48. EJ Groen MA van Es PW van Vught, et al. 2010 FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands Arch Neurol 67 224 230 20142531 10.1001/archneurol.2009.329
49. F Gros-Louis R Lariviere G Gowing, et al. 2004 A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis J Biol Chem 279 45951 45956 15322088 1:CAS:528:DC%2BD2cXovVCnt70%3D 10.1074/jbc.M408139200 (Pubitemid 39491588)
50. S Hadano CK Hand H Osuga, et al. 2001 A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 Nat Genet 29 166 173 11586298 1:CAS:528:DC%2BD3MXnsFKgur4%3D 10.1038/ng1001-166 (Pubitemid 32952653)
51. CK Hand J Khoris F Salachas, et al. 2002 A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q Am J Hum Genet 70 251 256 11706389 1:CAS:528:DC%2BD38XlvVKntA%3D%3D 10.1086/337945 (Pubitemid 34031714)
52. KA Hanson SH Kim DA Wassarman, et al. 2010 Ubiquilin modifies TDP-43 toxicity in a Drosophila model of amyotrophic lateral sclerosis (ALS) J Biol Chem 285 11068 11072 20154090 1:CAS:528:DC%2BC3cXktFGlsrk%3D 10.1074/jbc.C109.078527
53. M Hasegawa T Arai T Nonaka, et al. 2008 Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis Ann Neurol 64 60 70 18546284 1:CAS:528:DC%2BD1cXhtVKnsrnM 10.1002/ana.21425
54. A Hentati K Bejaoui MA Pericak-Vance, et al. 1994 Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35 Nat Genet 7 425 428 7920663 1:CAS:528:DyaK2cXltVWjs78%3D 10.1038/ng0794-425 (Pubitemid 24204421)
55. C Hewitt J Kirby JR Highley, et al. 2010 Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis Arch Neurol 67 455 4561 20385912 10.1001/archneurol.2010.52
56. S Higashi Y Tsuchiya T Araki, et al. 2010 TDP-43 physically interacts with amyotrophic lateral sclerosis-linked mutant CuZn superoxide dismutase Neurochem Int 57 906 913 20933032 1:CAS:528:DC%2BC3cXhsVygsLjJ 10.1016/j.neuint.2010.09.010
57. T Hortobágyi C Troakes AL Nishimura, et al. 2011 Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders Acta Neuropathol 121 519 527 21360076 10.1007/s00401-011-0813-3 1:CAS:528:DC%2BC3MXjsVWmur8%3D
58. BA Hosler T Siddique PC Sapp, et al. 2000 Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22 JAMA 284 1664 1669 11015796 1:CAS:528:DC%2BD3cXnt1Ort78%3D 10.1001/jama.284.13.1664
59. EJ Huang J Zhang F Geser, et al. 2010 Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusions Brain Pathol 20 1069 1076 20579074 1:CAS:528:DC%2BC3cXhsVKqtL%2FI 10.1111/j.1750-3639.2010.00413.x
60. M Hutton CL Lendon P Rizzu, et al. 1998 Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17 Nature 393 702 705 9641683 1:CAS:528:DyaK1cXktVyqsr0%3D 10.1038/31508 (Pubitemid 28289662)
61. LM Igaz LK Kwong A Chen-Plotkin, et al. 2009 Expression of TDP-43 C-terminal fragments in vitro recapitulates pathological features of TDP-43 proteinopathies J Biol Chem 284 8516 8524 19164285 1:CAS:528: DC%2BD1MXjsVSitr4%3D 10.1074/jbc.M809462200
62. LM Igaz LK Kwong EB Lee, et al. 2011 Dysregulation of the ALS-associated gene TDP-43 leads to neuronal death and degeneration in mice J Clin Invest 121 726 738 21206091 1:CAS:528:DC%2BC3MXhsl2qsrs%3D 10.1172/JCI44867
63. Y Iguchi M Katsuno J Niwa, et al. 2009 TDP-43 depletion induces neuronal cell damage through dysregulation of Rho family GTPases J Biol Chem 284 22059 22066 19535326 1:CAS:528:DC%2BD1MXpsFymtL8%3D 10.1074/jbc.M109.012195
64. H Ilieva M Polymenidou D Cleveland 2009 Non-cell autonomous toxicity in neurodegenerative disorders: ALS and beyond J Cell Biol 187 761 772 19951898 1:CAS:528:DC%2BD1MXhsF2qtb3F 10.1083/jcb.200908164
65. Ince PG, Clark B, Holton J et al (2008) Diseases of movement and system degenerations. In: Love S, Louis DN, Ellison DW (eds) Greenfield's Neuropathology. Hodder Arnold, London, pp 889-1030
66. PG Ince J Lowe PJ Shaw 1998 Amyotrophic lateral sclerosis: current issues in classification, pathogenesis and molecular pathology Neuropathol Appl Neurobiol 24 104 117 9634206 1:STN:280:DyaK1c3psF2lsQ%3D%3D 10.1046/j.1365-2990. 1998.00108.x (Pubitemid 28175040)
67. PG Ince JC Morris 2006 Demystifying lobar degenerations: tauopathies vs. Gehrigopathies Neurology 66 8 9 16401836 10.1212/01.wnl.0000196864.88089.ca (Pubitemid 43739582)
68. PG Ince J Tomkins JY Slade, et al. 1998 Amyotrophic lateral sclerosis associated with genetic abnormalities in the gene encoding Cu/Zn superoxide dismutase: molecular pathology of five new cases, and comparison with previous reports and 73 sporadic cases of ALS J Neuropathol Exp Neurol 57 895 904 9786240 1:CAS:528:DyaK1cXntVyltbg%3D 10.1097/00005072-199810000-00002 (Pubitemid 28478000)
69. H Ito K Fujita M Nakamura, et al. 2011 Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease Acta Neuropathol 121 555 557 21327942 10.1007/s00401-011-0809-z
70. D Ito M Seki Y Tsunoda, et al. 2010 Nuclear transport impairment of amyotrophic lateral sclerosis-linked mutations in FUS/TLS Ann Neurol 69 152 162 21280085 10.1002/ana.22246 1:CAS:528:DC%2BC3MXisVCisL0%3D
71. D Jaarsma E Teuling ED Haasdijk, et al. 2008 Neuron-specific expression of mutant superoxide dismutase is sufficient to induce amyotrophic lateral sclerosis in transgenic mice J Neurosci 28 2075 2088 18305242 1:CAS:528:DC%2BD1cXjt1Cqtb8%3D 10.1523/JNEUROSCI.5258-07.2008 (Pubitemid 351317636)
72. M Jackson KE Morrison A Al-Chalabi, et al. 1996 Analysis of chromosome 5q13 genes in amyotrophic lateral sclerosis: homozygous NAIP deletion in a sporadic case Ann Neurol 39 796 800 8651652 1:CAS:528:DyaK28Xkt1Omsbk%3D 10.1002/ana.410390616 (Pubitemid 26183816)
73. BS Johnson JM McCaffery S Lindquist, et al. 2008 A yeast TDP-43 proteinopathy model: exploring the molecular determinants of TDP-43 aggregation and cellular toxicity Proc Natl Acad Sci USA 105 6439 6444 18434538 1:CAS:528:DC%2BD1cXlsFGku70%3D 10.1073/pnas.0802082105 (Pubitemid 351758364)
74. JO Johnson J Mandrioli M Benatar, et al. 2010 Exome sequencing reveals VCP mutations as a cause of familial ALS Neuron 68 857 864 21145000 1:CAS:528:DC%2BC3cXhsFGhu73J 10.1016/j.neuron.2010.11.036
75. E Kabashi L Lin ML Tradewell, et al. 2010 Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo Hum Mol Genet 19 671 683 19959528 1:CAS:528:DC%2BC3cXmvVShug%3D%3D 10.1093/hmg/ddp534
76. PJ Kahle 2008 Alpha-synucleinopathy models and human neuropathology: similarities and differences Acta Neuropathol 115 87 95 17932682 1:CAS:528:DC%2BD2sXhtlOqtrnL 10.1007/s00401-007-0302-x (Pubitemid 350238669)
77. S Kim J Engelhardt J Henkel, et al. 2004 Widespread increased expression of the DNA repair enzyme PARP in brain in ALS Neurology 62 319 322 14745081 1:CAS:528:DC%2BD2cXhtFSjtQ%3D%3D (Pubitemid 38167152)
78. J Kirby EF Goodall W Smith, et al. 2010 Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis Neurogenetics 11 217 225 19760257 1:CAS:528: DC%2BC3cXkvVyntbY%3D 10.1007/s10048-009-0218-9
79. GG Kovacs JR Murrell S Horvath, et al. 2009 TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea Mov Disord 24 1843 1847 19609911 10.1002/mds.22697
80. TJ Kwiatkowski DA Bosco AL Leclerc, et al. 2009 Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis Science 323 1205 1208 19251627 1:CAS:528:DC%2BD1MXit1eltbw%3D 10.1126/science.1166066
81. H Laaksovirta T Peuralinna JC Schymick, et al. 2010 Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study Lancet Neurol 9 978 985 20801718 1:CAS:528:DC%2BC3cXhtFOntbvE 10.1016/S1474-4422(10) 70184-8
82. A Lepore C Dejea J Carmen, et al. 2008 Selective ablation of proliferating astrocytes does not affect disease outcome in either acute or chronic models of motor neuron degeneration Exp Neurol 211 423 432 18410928 10.1016/j.expneurol.2008.02.020
83. CL Leung CZ He P Kaufmann, et al. 2004 A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis Brain Pathol 14 290 296 15446584 1:CAS:528:DC%2BD2cXnslymsL4%3D 10.1111/j.1750-3639.2004.tb00066.x (Pubitemid 39095991)
84. CL Lin LA Bristol L Jin, et al. 1998 Aberrant RNA processing in a neurodegenerative disease: the cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis Neuron 20 589 602 9539131 1:CAS:528: DyaK1cXit1GmsL4%3D 10.1016/S0896-6273(00)80997-6 (Pubitemid 28153087)
85. L Liu-Yesucevitz A Bilgutay YJ Zhang, et al. 2010 Tar DNA binding protein-43 (TDP-43) associates with stress granules: analysis of cultured cells and pathological brain tissue PLoS ONE 5 e13250 20948999 10.1371/journal.pone. 0013250 1:CAS:528:DC%2BC3cXhtlSlt7zF
86. HN Liu T Sanelli P Horne, et al. 2009 Lack of evidence of monomer/misfolded superoxide dismutase-1 in sporadic amyotrophic lateral sclerosis Ann Neurol 66 75 80 19670443 1:CAS:528:DC%2BD1MXhtFWju7fI 10.1002/ana.21704
87. Lowe J, Mirra SS, Hyman BT et al (2008) Ageing and dementia. In: Love S, Louis DN, Ellison DW (eds) Greenfield's neuropathology. Hodder Arnold, London, pp 1031-1152
88. Y Lu J Ferris FB Gao 2009 Frontotemporal dementia and amyotrophic lateral sclerosis-associated disease protein TDP-43 promotes dendritic branching Mol Brain 2 30 19781077 10.1186/1756-6606-2-30 1:CAS:528:DC%2BD1MXht1egsL3N
89. AA Luty JB Kwok C Dobson-Stone, et al. 2010 Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease Ann Neurol 68 639 649 21031579 1:CAS:528:DC%2BC3cXhsFOnsrbM 10.1002/ana.22274
90. IR Mackenzie O Ansorge M Strong, et al. 2011 Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation Acta Neuropathol 122 87 98 21604077 10.1007/s00401-011-0838-7
91. I Mackenzie E Bigio P Ince, et al. 2007 Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations Ann Neurol 61 427 434 17469116 1:CAS:528:DC%2BD2sXnsFKmtbc%3D 10.1002/ana.21147 (Pubitemid 46878770)
92. IR Mackenzie M Neumann EH Bigio, et al. 2009 Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations Acta Neuropathol 117 15 18 19015862 10.1007/s00401-008-0460-5
93. IR Mackenzie M Neumann EH Bigio, et al. 2010 Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update Acta Neuropathol 119 1 4 19924424 10.1007/s00401-009-0612-2
94. IR Mackenzie R Rademakers M Neumann 2010 TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia Lancet Neurol 9 995 1007 20864052 1:CAS:528:DC%2BC3cXhtFOntbjN 10.1016/S1474-4422(10)70195-2
95. S Maekawa PN Leigh A King, et al. 2009 TDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations Neuropathology 29 672 683 19496940 10.1111/j.1440-1789. 2009.01029.x
96. C Maihofner S Probst-Cousin M Bergmann, et al. 2003 Expression and localization of cyclooxygenase-1 and -2 in human sporadic amyotrophic lateral sclerosis Eur J Neurosci 18 1527 1534 14511332 10.1046/j.1460-9568.2003.02879.x (Pubitemid 37215106)
97. H Maruyama H Morino H Ito, et al. 2010 Mutations of optineurin in amyotrophic lateral sclerosis Nature 465 223 226 20428114 1:CAS:528: DC%2BC3cXltlWmtr8%3D 10.1038/nature08971
98. KK McDonald A Aulas L Destroismaisons, et al. 2001 TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1 Hum Mol Genet 20 1400 1410 10.1093/hmg/ddr021 1:CAS:528:DC%2BC3MXjtFSgu74%3D
99. PA Mercado YM Ayala M Romano, et al. 2005 Depletion of TDP 43 overrides the need for exonic and intronic splicing enhancers in the human apoA-II gene Nucleic Acids Res 33 6000 6010 16254078 1:CAS:528:DC%2BD2MXht1Omt7zP 10.1093/nar/gki897 (Pubitemid 41742619)
100. A Migheli S Cordera C Bendotti, et al. 1999 S-100β protein is upregulated in astrocytes and motor neurons in the spinal cord of patients with amyotrophic lateral sclerosis Neurosci Lett 261 25 28 10081918 1:CAS:528:DyaK1MXhs1Ontrs%3D 10.1016/S0304-3940(98)01001-5 (Pubitemid 29100067)
101. A Migheli R Piva C Atzori, et al. 1997 c-Jun, JNK/SAPK kinase and transcription factor NF-[kappa]B are selectively activated in astrocytes, but not motor neurons, in amyotrophic lateral sclerosis J Neuropathol Exp Neurol 56 131413 131422
102. D Miller M Cookson DW Dickson 2004 Glial cell inclusions and the pathogenesis of neurodegenerative diseases Neuron Glia Biol 1 13 21 16614753 10.1017/S1740925X04000043
103. J Mitchell P Paul HJ Chen, et al. 2010 Familial amyotrophic lateral sclerosis is associated with a mutation in d-amino acid oxidase Proc Natl Acad Sci USA 107 7556 7561 20368421 1:CAS:528:DC%2BC3cXlsV2isro%3D 10.1073/pnas.0914128107
104. K Moisse J Mepham K Volkening, et al. 2009 Cytosolic TDP-43 expression following axotomy is associated with caspase 3 activation in NFL-/- mice: support for a role for TDP-43 in the physiological response to neuronal injury Brain Res 1296 176 186 19619516 1:CAS:528:DC%2BD1MXhtFyqsbzP 10.1016/j.brainres.2009.07.023
105. K Moisse K Volkening C Leystra-Lantz, et al. 2009 Divergent patterns of cytosolic TDP-43 and neuronal progranulin expression following axotomy: implications for TDP-43 in the physiological response to neuronal injury Brain Res 1249 202 211 19046946 1:CAS:528:DC%2BD1MXht1ajtA%3D%3D 10.1016/j.brainres. 2008.10.021
106. S Murayama K Inoue H Kawakami, et al. 1991 A unique pattern of astrocytosis in the primary motor area in amyotrophic lateral sclerosis Acta Neuropathol 82 456 461 1785258 1:STN:280:DyaK387ltFGrsA%3D%3D 10.1007/BF00293379
107. D Nagy T Kato P Kushner 1994 Reactive astrocytes are widespread in the cortical gray matter of amyotrophical lateral sclerosis J Neurosci Res 38 336 347 7523689 1:CAS:528:DyaK2cXksFGisbs%3D 10.1002/jnr.490380312 (Pubitemid 24189639)
108. M Neumann LK Kwong EB Lee, et al. 2009 Phosphorylation of S409/410 of TDP-43 is a consistent featurein all sporadic and familial forms of TDP-43 proteinopathies Acta Neuropathol 117 137 149 19125255 1:CAS:528: DC%2BD1MXhtVCltLw%3D 10.1007/s00401-008-0477-9
109. M Neumann DM Sampathu LK Kwong, et al. 2006 Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis Science 314 130 133 17023659 1:CAS:528:DC%2BD28XhtVCiurrL 10.1126/science.1134108 (Pubitemid 44547757)
110. H Newbery T Gillingwater P Dharmasaroja, et al. 2005 Progressive loss of motor neuron function in wasted mice: effects of a spontaneous null mutation in the gene for the eEF1A2 translation factor J Neuropathol Exp Neurol 64 295 303 15835265 1:CAS:528:DC%2BD2MXjvVWmsL4%3D (Pubitemid 40489556)
111. Y Nishihara C-F Tan O Onudera, et al. 2008 Sporadic amyotrophic lateral sclerosis: two pathological patterns shown by analysis of distribution of TDP-43 immunoreactive neuronal and glial cytoplasmic inclusions Acta Neuropathol 116 169 182 10.1007/s00401-008-0385-z 1:CAS:528:DC%2BD1cXosVyisLc%3D
112. Y Nishimoto D Ito T Yagi, et al. 2010 Characterization of alternative isoforms and inclusion body of the TAR DNA-binding protein-43 J Biol Chem 285 608 619 19887443 1:CAS:528:DC%2BD1MXhs1SqtrzL 10.1074/jbc.M109.022012
113. AL Nishimura M Mitne-Neto HC Silva, et al. 2004 A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis Am J Hum Genet 75 822 831 15372378 1:CAS:528:DC%2BD2cXptVSns7k%3D 10.1086/425287 (Pubitemid 39390489)
114. K Noda S Katayama C Watanabe, et al. 1999 Gallyas- and tau-positive glial structures in motor neuron disease with dementia Clin Neuropathol 18 218 225 10505430 1:STN:280:DyaK1Mvjtlanuw%3D%3D (Pubitemid 29422201)
115. ZL Olkowski 1998 Mutant AP endonuclease in patients with amyotrophic lateral sclerosis Neuroreport 9 239 242 9507962 1:STN:280:DyaK1c7mslersg%3D%3D 10.1097/00001756-199801260-00012 (Pubitemid 28081395)
116. SH Ou F Wu D Harrich, et al. 1995 Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs J Virol 69 3584 3596 7745706 1:CAS:528:DyaK2MXls1yitLY%3D
117. N Parkinson PG Ince MO Smith, et al. 2006 ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B) Neurology 67 1074 1077 16807408 1:CAS:528:DC%2BD28XpsVantr8%3D 10.1212/01.wnl.0000231510.89311.8b (Pubitemid 44454610)
118. G Perea M Navarrete A Araque 2009 Tripartite synapses: astrocytes process and control synaptic information TINS 32 421 431 19615761 1:CAS:528: DC%2BD1MXps1aju7Y%3D
119. YS Piao K Wakabayashi A Kakita, et al. 2003 Neuropathology with clinical correlations of sporadic amyotrophic lateral sclerosis: 102 autopsy cases examined between 1962 and 2000 Brain Pathol 13 10 22 12580541 10.1111/j.1750-3639.2003.tb00002.x (Pubitemid 36133788)
120. M Polymenidou C Lagier-Tourenne KR Hutt, et al. 2011 Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43 Nature Neurosci 14 459 468 21358643 1:CAS:528:DC%2BC3MXisFensb0%3D 10.1038/nn.2779
121. AE Renton E Majounie A Waite, et al. 2011 A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-Linked ALS-FTD Neuron 72 1 12 10.1016/j.neuron.2011.09.010 1:CAS:528:DC%2BC3MXhtlKrtL%2FI
122. S Robel B Berninger M Gotz 2011 The stem cell potential of glia: lessons from reactive gliosis. Nature reviews Neuroscience 12 88 104 21248788 1:CAS:528:DC%2BC3MXnvVKnsw%3D%3D
123. DR Rosen T Siddique D Patterson, et al. 1993 Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis Nature 362 59 62 8446170 1:CAS:528:DyaK3sXhvV2hs74%3D 10.1038/362059a0 (Pubitemid 23087289)
124. PC Sapp BA Hosler D McKenna-Yasek, et al. 2003 Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis Am J Hum Genet 73 397 403 12858291 1:CAS:528:DC%2BD3sXmt1Snurs%3D 10.1086/377158 (Pubitemid 36921002)
125. S Sasaki N Shibata T Komori, et al. 2000 iNOS and nitrotyrosine immunoreactivity in amyotrophic lateral sclerosis Neurosci Lett 291 44 48 10962150 1:CAS:528:DC%2BD3cXmtVCqtLk%3D 10.1016/S0304-3940(00)01370-7 (Pubitemid 30658109)
126. D Schiffer S Cordera P Cavalla, et al. 1996 Reactive astrogliosis of the spinal cord in amyotrophic lateral sclerosis J Neurol Sci 139 Suppl 27 33 8899654 10.1016/0022-510X(96)00073-1 (Pubitemid 26323576)
127. CF Sephton C Cenik A Kucukural, et al. 2011 Identification of neuronal RNA targets of TDP-43-containing Ribonucleoprotein complexes J Biol Chem 286 1204 1215 21051541 1:CAS:528:DC%2BC3MXjtFejtw%3D%3D 10.1074/jbc.M110.190884
128. CF Sephton SK Good S Atkin, et al. 2010 TDP-43 is a developmentally regulated protein essential for early embryonic development J Biol Chem 285 6826
129. A Shatunov K Mok S Newhouse, et al. 2010 Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study Lancet Neurol 9 986 994 20801717 1:CAS:528:DC%2BC3cXhtFOntbjM 10.1016/S1474-4422(10)70197-6
130. Y Shiina K Arima H Tabunoki, et al. 2009 TDP-43 dimerizes in human cells in culture Cell Mol Neurobiol 30 641 652 20043239 10.1007/s10571-009-9489-9 1:CAS:528:DC%2BC3cXmsVSltL8%3D
131. JM Shulman PL De Jager 2009 Evidence for a common pathway linking neurodegenerative diseases Nat Genet 41 1261 1262 19935760 1:CAS:528: DC%2BD1MXhsVGqs7bE 10.1038/ng1209-1261
132. JS Snowden Q Hu S Rollinson N Halliwell, et al. 2011 The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS gene Acta Neuropathol 122 99 110 21424531 1:CAS:528:DC%2BC3MXnvVKgu7Y%3D 10.1007/s00401-011-0816-0
133. J Sreedharan IP Blair VB Tripathi, et al. 2008 TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis Science 319 1668 1672 18309045 1:CAS:528:DC%2BD1cXjsVamtbo%3D 10.1126/science.1154584 (Pubitemid 351432505)
134. NR Stallings K Puttaparthi CM Luther, et al. 2010 Progressive motor weakness in transgenic mice expressing human TDP-43 Neurobiol Dis 40 404 414 20621187 1:CAS:528:DC%2BC3cXhtFCrsr7P 10.1016/j.nbd.2010.06.017
135. M Strong S Kesavapany H Pant 2005 The pathobiology of amyotrophic lateral sclerosis: a proteinopathy? J Neuropathol Exp Neurol 64 649 664 16106213 1:CAS:528:DC%2BD2MXhtVemsL3K 10.1097/01.jnen.0000173889.71434.ea (Pubitemid 41177106)
136. H Sumi S Kato Y Mochimaru, et al. 2009 Nuclear TAR DNA binding protein 43 expression in spinal cord neurons correlates with the clinical course in amyotrophic lateral sclerosis J Neuropathol Exp Neurol 68 37 47 19104447 1:CAS:528:DC%2BD1MXhsFGlsrs%3D 10.1097/NEN.0b013e3181919cb5
137. T Tateishi T Hokonohara R Yamasaki, et al. 2010 Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation Acta Neuropathol 119 355 364 19967541 10.1007/s00401-009-0621-1
138. JB Tatom DB Wang RD Dayton, et al. 2009 Mimicking aspects of frontotemporal lobar degeneration and Lou Gehrig's disease in rats via TDP-43 overexpression Mol Ther 17 607 613 19223871 1:CAS:528:DC%2BD1MXhvFKisrs%3D 10.1038/mt.2009.3
139. JR Tollervey T Curk B Rogelj, et al. 2011 Characterizing the RNA targets and position-dependent splicing regulation by TDP-43 Nature Neurosci 14 452 458 21358640 1:CAS:528:DC%2BC3MXisFegurw%3D 10.1038/nn.2778
140. J Tomkins P Usher JY Slade, et al. 1998 Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS) Neuroreport 9 3967 3970 9875737 1:CAS:528:DyaK1MXjtVChtw%3D%3D 10.1097/00001756-199812010-00036 (Pubitemid 29189335)
141. KJ Tsai CH Yang YH Fang, et al. 2010 Elevated expression of TDP-43 in the forebrain of mice is sufficient to cause neurological and pathological phenotypes mimicking FTLD-U J Exp Med 207 1661 1673 20660618 1:CAS:528:DC%2BC3cXhtVejt7bI 10.1084/jem.20092164
142. MA van Es PW Van Vught HM Blauw, et al. 2007 ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study Lancet Neurol 6 869 877 17827064 10.1016/S1474-4422(07)70222-3 1:CAS:528:DC%2BD2sXht1Krtr7L (Pubitemid 47407791)
143. MA van Es PW van Vught HM Blauw, et al. 2008 Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis Nat Genet 40 29 31 18084291 10.1038/ng.2007.52 1:CAS:528:DC%2BD1cXhtVyrsA%3D%3D
144. T Van Langenhove J van der Zee K Sleegers, et al. 2010 Genetic contribution of FUS to frontotemporal lobar degeneration Neurology 74 366 371 20124201 10.1212/WNL.0b013e3181ccc732
145. C Vance A Al-Chalabi D Ruddy, et al. 2006 Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3 Brain 129 868 876 16495328 10.1093/brain/awl030
146. C Vance B Rogelj T Hortobagyi, et al. 2009 Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6 Science 323 1208 1211 19251628 1:CAS:528:DC%2BD1MXit1eltbs%3D 10.1126/science.1165942
147. M Vargas J Johnson 2010 Astrogliosis in amyotrophic lateral sclerosis: role and therapeutic potential of astrocytes Neurotherapeutics 7 471 481 20880509 1:CAS:528:DC%2BC3cXht1SqsLbN 10.1016/j.nurt.2010.05.012
148. MR Vargas M Pehar PJ Diaz-Amarilla, et al. 2008 Transcriptional profile of primary astrocytes expressing ALS-linked mutant SOD1 J Neurosci Res 86 3515 3525 18683239 1:CAS:528:DC%2BD1cXhsFaksL%2FO 10.1002/jnr.21797
149. A Verkhratsky M Olabarria H Noristani, et al. 2010 Astrocytes in Alzheimer's disease Neurotherapeutics 7 399 412 20880504 1:CAS:528: DC%2BC3cXht1SqsLnK 10.1016/j.nurt.2010.05.017
150. K Volkening C Leystra-Lantz W Yang, et al. 2009 Tar DNA binding protein of 43 kDa (TDP-43), 14-3-3 proteins and copper/zinc superoxide dismutase (SOD1) interact to modulate NFL mRNA stability. Implications for altered RNA processing in amyotrophic lateral sclerosis (ALS) Brain Res 1305 168 182 19815002 1:CAS:528:DC%2BD1MXhsVGntbbO 10.1016/j.brainres.2009.09.105
151. A Volterra J Meldolesi 2005 Astrocytes, from brain glue to communication elements: the revolution continues Nat Rev Neurosci 6 626 640 16025096 1:CAS:528:DC%2BD2MXmvVGht7Y%3D 10.1038/nrn1722 (Pubitemid 41059337)
152. L Wang D Gutmann R Roos 2011 Astrocyte loss of mutant SOD1 delays ALS disease onset and progression in G85R transgenic mice Hum Mol Genet 20 286 293 20962037 1:CAS:528:DC%2BC3cXhs1WgtbrP 10.1093/hmg/ddq463
153. I Wegorzewska S Bell NJ Cairns, et al. 2009 TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration Proc Natl Acad Sci USA 106 18809 18814 19833869 1:CAS:528:DC%2BD1MXhsVKmsLzJ 10.1073/pnas.0908767106
154. H Wils G Kleinberger J Janssens, et al. 2010 TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration Proc Natl Acad Sci USA 107 3858 3863 20133711 1:CAS:528:DC%2BC3cXjtFyls78%3D 10.1073/pnas.0912417107
155. MJ Winton LM Igaz MM Wong, et al. 2008 Disturbance of nuclear and cytoplasmic TAR DNA-binding protein (TDP-43) induces disease-like redistribution, sequestration, and aggregate formation J Biol Chem 283 13302 13309 18305110 1:CAS:528:DC%2BD1cXltlGqsbk%3D 10.1074/jbc.M800342200
156. Wroe R (2011) ALS online genetics database. Available from http://alsod.iop.kcl.ac.uk/Index.aspx
157. LS Wu WC Cheng SC Hou, et al. 2010 TDP-43, a neuro-pathosignature factor, is essential for early mouse embryogenesis Genesis 48 56 62 20014337 1:CAS:528:DC%2BC3cXitFGjt7Y%3D
158. S Xiao T Sanelli S Dib, et al. 2011 RNA targets of TDP-43 identified by UV-CLIP are deregulated in ALS Mol Cell Neurosci 47 167 180 21421050 1:CAS:528:DC%2BC3MXntV2lsbo%3D 10.1016/j.mcn.2011.02.013
159. YF Xu TF Gendron YJ Zhang, et al. 2010 Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic mice J Neurosci 30 10851 10859 20702714 1:CAS:528:DC%2BC3cXhtVOhsbrF 10.1523/JNEUROSCI.1630-10.2010
160. K Yamanaka S Chun S Boillee, et al. 2008 Astrocytes as determinants of disease progression in inherited amyotrophic lateral sclerosis Nat Neurosci 11 251 253 18246065 1:CAS:528:DC%2BD1cXisFOrurw%3D 10.1038/nn2047 (Pubitemid 351311795)
161. C Yang W Tan C Whittle, et al. 2010 The C-terminal TDP-43 fragments have a high aggregation propensity and harm neurons by a dominant-negative mechanism PLoS One 5 e15878 21209826 1:CAS:528:DC%2BC3MXntFWisA%3D%3D 10.1371/journal. pone.0015878
162. W Yang M Sopper C Leystra-Lantz, et al. 2003 Microtubule-associated tau protein positive neuronal and glial inclusions in ALS Neurology 61 1766 1773 14694044 1:CAS:528:DC%2BD2cXos1ygtQ%3D%3D (Pubitemid 38020826)
163. Y Yang A Hentati HX Deng, 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 11586297 1:CAS:528:DC%2BD3MXnsFKgtbk%3D 10.1038/ng1001-160 (Pubitemid 32952652)
164. JJ Zarranz I Ferrer E Lezcano, et al. 2005 A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease Neurology 64 1578 1585 15883319 1:CAS:528:DC%2BD2MXjsVCjtro%3D 10.1212/01.WNL.0000160116.65034.12 (Pubitemid 40617694)
165. H Zhang C-F Tan F Mori, et al. 2008 TDP-43 immunoreactive neuronal and glial inclusions in the neostriatum in amyotrophic lateral sclerosis with and without dementia Acta Neuropathol 115 115 122 17786458 1:CAS:528: DC%2BD2sXhtlOqtrnK 10.1007/s00401-007-0285-7 (Pubitemid 350238670)
166. YJ Zhang YF Xu C Cook, et al. 2009 Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity Proc Natl Acad Sci USA 106 7607 7612 19383787 1:CAS:528:DC%2BD1MXmt1KktLo%3D 10.1073/pnas.0900688106
167. YJ Zhang YF Xu CA Dickey, et al. 2007 Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43 J Neurosci 27 10530 10534 17898224 1:CAS:528:DC%2BD2sXhtFGmt7fO 10.1523/JNEUROSCI.3421-07.2007 (Pubitemid 47501990)
168. H Zhou C Huang H Chen, et al. 2010 Transgenic rat model of neurodegeneration caused by mutation in the TDP gene PLoS Genet 6 e1000887 20361056 10.1371/journal.pgen.1000887 1:CAS:528:DC%2BC3cXksFeiur8%3D