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, 40 (5), 572-4

TARDBP Mutations in Individuals With Sporadic and Familial Amyotrophic Lateral Sclerosis

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TARDBP Mutations in Individuals With Sporadic and Familial Amyotrophic Lateral Sclerosis

Edor Kabashi et al. Nat Genet.

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.

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