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Items: 1 to 20 of 336

1.

Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis.

Pesiridis GS, Lee VM, Trojanowski JQ.

Hum Mol Genet. 2009 Oct 15;18(R2):R156-62. doi: 10.1093/hmg/ddp303. Review.

2.

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.

Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJ, Sreedharan J, Vance C, Sorenson E, Lippa C, Bigio EH, Geschwind DH, Knopman DS, Mitsumoto H, Petersen RC, Cashman NR, Hutton M, Shaw CE, Boylan KB, Boeve B, Graff-Radford NR, Wszolek ZK, Caselli RJ, Dickson DW, Mackenzie IR, Petrucelli L, Rademakers R.

PLoS Genet. 2008 Sep 19;4(9):e1000193. doi: 10.1371/journal.pgen.1000193.

3.

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis.

Van Deerlin VM, Leverenz JB, Bekris LM, Bird TD, Yuan W, Elman LB, Clay D, Wood EM, Chen-Plotkin AS, Martinez-Lage M, Steinbart E, McCluskey L, Grossman M, Neumann M, Wu IL, Yang WS, Kalb R, Galasko DR, Montine TJ, Trojanowski JQ, Lee VM, Schellenberg GD, Yu CE.

Lancet Neurol. 2008 May;7(5):409-16. doi: 10.1016/S1474-4422(08)70071-1. Epub 2008 Apr 7.

4.

[Clinical and pathological spectrum of TDP-43 associated ALS].

Onodera O, Yokoseki A, Tan CF, Ishihara T, Nishiira Y, Toyoshima Y, Kakita A, Nishizawa M, Takahashi H.

Rinsho Shinkeigaku. 2010 Nov;50(11):940-2. Review. Japanese.

PMID:
21921519
5.

A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred.

Williams KL, Durnall JC, Thoeng AD, Warraich ST, Nicholson GA, Blair IP.

J Neurol Neurosurg Psychiatry. 2009 Nov;80(11):1286-8. doi: 10.1136/jnnp.2008.163261.

PMID:
19864664
6.

Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.

Mackenzie IR, Bigio EH, Ince PG, Geser F, Neumann M, Cairns NJ, Kwong LK, Forman MS, Ravits J, Stewart H, Eisen A, McClusky L, Kretzschmar HA, Monoranu CM, Highley JR, Kirby J, Siddique T, Shaw PJ, Lee VM, Trojanowski JQ.

Ann Neurol. 2007 May;61(5):427-34.

PMID:
17469116
7.

Requirements for stress granule recruitment of fused in sarcoma (FUS) and TAR DNA-binding protein of 43 kDa (TDP-43).

Bentmann E, Neumann M, Tahirovic S, Rodde R, Dormann D, Haass C.

J Biol Chem. 2012 Jun 29;287(27):23079-94. doi: 10.1074/jbc.M111.328757. Epub 2012 May 4.

8.

TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration.

Wils H, Kleinberger G, Janssens J, Pereson S, Joris G, Cuijt I, Smits V, Ceuterick-de Groote C, Van Broeckhoven C, Kumar-Singh S.

Proc Natl Acad Sci U S A. 2010 Feb 23;107(8):3858-63. doi: 10.1073/pnas.0912417107. Epub 2010 Feb 3.

9.

Lower motor neuron involvement in TAR DNA-binding protein of 43 kDa-related frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

Riku Y, Watanabe H, Yoshida M, Tatsumi S, Mimuro M, Iwasaki Y, Katsuno M, Iguchi Y, Masuda M, Senda J, Ishigaki S, Udagawa T, Sobue G.

JAMA Neurol. 2014 Feb;71(2):172-9. doi: 10.1001/jamaneurol.2013.5489.

PMID:
24378564
10.

[TDP-43 proteinopathies: ALS and frontotemporal dementias].

Prudlo J.

Fortschr Neurol Psychiatr. 2009 Aug;77 Suppl 1:S25-7. doi: 10.1055/s-0028-1109602. Epub 2009 Aug 14. German.

PMID:
19685386
11.

Loss of ALS-associated TDP-43 in zebrafish causes muscle degeneration, vascular dysfunction, and reduced motor neuron axon outgrowth.

Schmid B, Hruscha A, Hogl S, Banzhaf-Strathmann J, Strecker K, van der Zee J, Teucke M, Eimer S, Hegermann J, Kittelmann M, Kremmer E, Cruts M, Solchenberger B, Hasenkamp L, van Bebber F, Van Broeckhoven C, Edbauer D, Lichtenthaler SF, Haass C.

Proc Natl Acad Sci U S A. 2013 Mar 26;110(13):4986-91. doi: 10.1073/pnas.1218311110. Epub 2013 Mar 1.

12.

[The implications of TDP-43 mutations in pathogenesis of amyotrophic lateral sclerosis].

Ishihara T, Yokoseki A, Nishizawa M, Takahashi H, Onodera O.

Brain Nerve. 2009 Nov;61(11):1301-7. Review. Japanese.

PMID:
19938687
13.

Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations.

K├╝hnlein P, Sperfeld AD, Vanmassenhove B, Van Deerlin V, Lee VM, Trojanowski JQ, Kretzschmar HA, Ludolph AC, Neumann M.

Arch Neurol. 2008 Sep;65(9):1185-9. doi: 10.1001/archneur.65.9.1185.

14.

A novel TARDBP insertion/deletion mutation in the flail arm variant of amyotrophic lateral sclerosis.

Solski JA, Yang S, Nicholson GA, Luquin N, Williams KL, Fernando R, Pamphlett R, Blair IP.

Amyotroph Lateral Scler. 2012 Sep;13(5):465-70. doi: 10.3109/17482968.2012.662690. Epub 2012 Mar 16.

PMID:
22424122
15.

TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.

Del Bo R, Ghezzi S, Corti S, Pandolfo M, Ranieri M, Santoro D, Ghione I, Prelle A, Orsetti V, Mancuso M, Sorar├╣ G, Briani C, Angelini C, Siciliano G, Bresolin N, Comi GP.

Eur J Neurol. 2009 Jun;16(6):727-32. doi: 10.1111/j.1468-1331.2009.02574.x. Epub 2009 Feb 19.

PMID:
19236453
16.
17.

Functional complementation in Drosophila to predict the pathogenicity of TARDBP variants: evidence for a loss-of-function mechanism.

Vanden Broeck L, Kleinberger G, Chapuis J, Gistelinck M, Amouyel P, Van Broeckhoven C, Lambert JC, Callaerts P, Dermaut B.

Neurobiol Aging. 2015 Feb;36(2):1121-9. doi: 10.1016/j.neurobiolaging.2014.09.001. Epub 2014 Sep 28.

PMID:
25442115
18.

Loss of nuclear TDP-43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones.

Highley JR, Kirby J, Jansweijer JA, Webb PS, Hewamadduma CA, Heath PR, Higginbottom A, Raman R, Ferraiuolo L, Cooper-Knock J, McDermott CJ, Wharton SB, Shaw PJ, Ince PG.

Neuropathol Appl Neurobiol. 2014 Oct;40(6):670-85. doi: 10.1111/nan.12148.

PMID:
24750229
19.

Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS.

Mitchell JC, Constable R, So E, Vance C, Scotter E, Glover L, Hortobagyi T, Arnold ES, Ling SC, McAlonis M, Da Cruz S, Polymenidou M, Tessarolo L, Cleveland DW, Shaw CE.

Acta Neuropathol Commun. 2015 Jun 25;3:36. doi: 10.1186/s40478-015-0212-4.

20.

TDP-43 is intrinsically aggregation-prone, and amyotrophic lateral sclerosis-linked mutations accelerate aggregation and increase toxicity.

Johnson BS, Snead D, Lee JJ, McCaffery JM, Shorter J, Gitler AD.

J Biol Chem. 2009 Jul 24;284(30):20329-39. doi: 10.1074/jbc.M109.010264. Epub 2009 May 22. Erratum in: J Biol Chem. 2009 Sep 11;284(37):25459.

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