{TARDBP} mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

  • Kabashi E
  • Valdmanis P
  • Dion P
 et al. 
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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.

Author-supplied keywords

  • Adult Aged Amino Acid Sequence Amyotrophic Lateral

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Authors

  • E Kabashi

  • P N Valdmanis

  • P Dion

  • D Spiegelman

  • McConkey, BJ

  • Vande C Velde

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