TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

E Kabashi, PN Valdmanis, P Dion, D Spiegelman… - Nature …, 2008 - nature.com
E Kabashi, PN Valdmanis, P Dion, D Spiegelman, BJ McConkey, CV Velde, JP Bouchard…
Nature genetics, 2008nature.com
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.
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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