TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis Academic Article uri icon

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abstract

  • Recently, TDP-43 was identified as a key component of ubiquitinated aggregates in amyotrophic lateral sclerosis (ALS), an adult-onset neurological disorder that leads to the degeneration of motor neurons. Here we report eight missense mutations in nine individuals--six from individuals with sporadic ALS (SALS) and three from those with familial ALS (FALS)--and a concurring increase of a smaller TDP-43 product. These findings further corroborate that TDP-43 is involved in ALS pathogenesis.

authors

  • Kabashi, Edor
  • Valdmanis, Paul N
  • Dion, Patrick
  • Spiegelman, Dan
  • McConkey, Brendan
  • Velde, Christine Vande
  • Bouchard, Jean-Pierre
  • Lacomblez, Lucette
  • Pochigaeva, Ksenia
  • Salachas, Francois
  • Pradat, Pierre-Francois
  • Camu, William
  • Meininger, Vincent
  • Dupre, Nicolas
  • Rouleau, Guy A

publication date

  • May 2008