TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration

Proceedings of the National Academy of Sciences of the United States of America

Volumn 106, Issue 44, 2009, Pages 18809-18814

  Wegorzewska, Iga ^a   Bell, Shaughn ^a   Cairns, Nigel J ^a   Miller, Timothy M ^a   Baloh, Robert H ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Dementia; Motor neuron disease; Neurodegeneration; Protein aggregation

Indexed keywords

RNA BINDING PROTEIN; TAR DNA BINDING PROTEIN;

AMYOTROPHIC LATERAL SCLEROSIS; ANIMAL EXPERIMENT; ARTICLE; CONTROLLED STUDY; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; HISTOPATHOLOGY; MOUSE; NERVE DEGENERATION; NONHUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION;

AMYOTROPHIC LATERAL SCLEROSIS; ANIMALS; BRAIN; DISEASE MODELS, ANIMAL; DNA-BINDING PROTEINS; FRONTOTEMPORAL LOBAR DEGENERATION; GAIT; HUMANS; MICE; MICE, TRANSGENIC; MUTATION; SURVIVAL ANALYSIS;

MUS; MUS MUSCULUS;

EID: 73249152831     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0908767106     Document Type: Article

References (33)

1. Seeley WW (2008) Selective functional, regional, and neuronal vulnerability in frontotemporal dementia. Curr Opin Neurol 21:701-707.
2. Cleveland DW, Rothstein JD (2001) From Charcot to Lou Gehrig: Deciphering selective motor neuron death in ALS. Nat Rev Neurosci 2:806-819.
3. Pasinelli P, BrownRH(2006) Molecular biology of amyotrophic lateral sclerosis: Insights from genetics. Nat Rev Neurosci 7:710-723.
4. Murphy JM, et al. (2007) Continuum of frontal lobe impairment in amyotrophic lateral sclerosis. Arch Neurol 64:530-534.
5. Lomen-Hoerth C, Anderson T, Miller B (2002) The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology 59:1077-1079.
6. Neumann M, et al. (2006) Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314:130-133.
7. Buratti E, Baralle FE (2008) Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease. Front Biosci 13:867-878.
8. Gitcho MA, et al. (2008) TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol 63:535-538.
9. Kabashi E, et al. (2008) TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet 40:572-574.
10. Van Deerlin VM, et al. (2008) TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: A genetic and histopathological analysis. Lancet Neurol 7:409-416.
11. Sreedharan J, et al. (2008) TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 319:1668-1672.
12. Yokoseki A, et al. (2008) TDP-43 mutation in familial amyotrophic lateral sclerosis. Ann Neurol 63:538-542.
13. Lagier-Tourenne C, Cleveland DW (2009) Rethinking ALS: The FUS about TDP-43. Cell 136:1001-1004.
14. Kwiatkowski TJ, Jr, et al. (2009) Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323:1205-1208.
15. Vance C, et al. (2009) Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323:1208-1211.
16. Borchelt DR, et al. (1996) A vector for expressing foreign genes in the brains and hearts of transgenic mice. Genet Anal 13:159-163.
17. Cairns NJ, 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.
18. Leigh PN, et al. (1991) Ubiquitin-immunoreactive intraneuronal inclusions in amyotrophic lateral sclerosis. Morphology, distribution, and specificity. Brain 114:775-788.
19. Molnar Z, Cheung AF (2006) Towards the classification of subpopulations of layer V pyramidal projection neurons. Neurosci Res 55:105-115.
20. Davidson Y, et al. (2007) Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43. Acta Neuropathol 113:521-533.
21. Charcot JM, JoffroyA(1869) Deux cas d'atrophie musculaire progressive avec les lesions de la substance grise et faiscaux anterolateraux de la moelle epiniere. Archives de Physiologic Normale et Pathologique 2:354-367, 629-649, 744-760.
22. Baloh RH, Rakowicz W, Gardner R, Pestronk A (2007) Frequent atrophic groups with mixed-type myofibers is distinctive to motor neuron syndromes. Muscle Nerve 36:107-110.
23. Zhang YJ, et al. (2007) Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43. J Neurosci 27:10530-10534.
24. Igaz LM, et al. (2009) Expression Of TDP-43 C-terminal fragments in vitro recapitulates pathological features of TDP-43 proteinopathies. J Biol Chem.
25. Zhang YJ, et al. (2009) Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity. Proc Natl Acad Sci USA 106:7607-7612.
26. Ayala YM, Misteli T, Baralle FE (2008) TDP-43 regulates retinoblastoma protein phosphorylation through the repression of cyclin-dependent kinase 6 expression. Proc Natl Acad Sci USA 105):3785-3789.
27. Xu Y, et al. (2008) Generation and characterization of human TDP-43 transgenic mice. Society for Neuroscience Abstracts, Annual Meeting Publications.
28. Winklhofer KF, Tatzelt J, Haass C (2008) The two faces of protein misfolding: Gain- and loss-of-function in neurodegenerative diseases. EMBO J 27:336-349.
29. Haass C, Selkoe DJ (2007) Soluble protein oligomers in neurodegeneration: Lessons from the Alzheimer's amyloid beta-peptide. Nat Rev Mol Cell Biol 8:101-112.
30. Walsh DM, et al. (2002) Naturally secreted oligomers of amyloid beta protein potently inhibit hippocampal long-term potentiation in vivo. Nature 416:535-539.
31. Klement IA, et al. (1998) Ataxin-1 nuclear localization and aggregation: Role in polyglutamine-induced disease in SCA1 transgenic mice. Cell 95:41-53.
32. Stefanis L, Larsen KE, Rideout HJ, Sulzer D, Greene LA (2001) Expression of A53T mutant but not wild-type alpha-synuclein in PC12 cells induces alterations of the ubiquitindependent degradation system, loss of dopamine release, and autophagic cell death. J Neurosci 21:9549-9560.
33. Kristiansen M, et al. (2007) Disease-associated prion protein oligomers inhibit the 26S proteasome. Mol Cell 26:175-188.