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ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation

  • Published:2015-10-09 Issue:1 Volume:3 Page:
  • ISSN:2051-5960
  • Container-title:Acta Neuropathologica Communications
  • language:en
  • Short-container-title:acta neuropathol commun

Author:

King Andrew,Troakes Claire,Smith Bradley,Nolan Matthew,Curran Olimpia,Vance Caroline,Shaw Christopher E.,Al-Sarraj Safa

Funder

Heaton-Ellis Trust

Motor Neurone Disease Association

The Psychiatry Research Trust of the Institute of Psychiatry

The Middlemass family

Guy's and St Thomas' Charity

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Reference38 articles.

1. Arai T, Hasegawa M, Akiyama H, Ikeda K, Nonaka T, Mori H, Mann D, Tsuchiya K, Yoshida M, Hashizume Y, Oda T (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

2. Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT, Bruce J, Schuck T, Grossman M, Clark CM, McCluskey LF, Miller BL, Masliah E, Mackenzie IR, Feldman H, Feiden W, Kretzschmar HA, Trojanowski JQ, Lee VM (2006) Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314:130–133

3. Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE, Brown RH Jr (2009) Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323(5918):1205–1208

4. Vance C, Rogelj B, Hortobagyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A, Leigh PN, Blair IP, Nicholson G, de Belleroche J, Gallo JM, Miller CC, Shaw CE (2009) Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323:1208–1211

5. Ticozzi N, Silani V, Leclerc AL, Keagle P, Gellera C, Ratti A, Taroni F, Kwiatkowski TJ Jr, McKenna-Yasek DM, Sapp PC, Brown RH Jr, Landers JE (2009) Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort. Neurology 73(15):1180–1185

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