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TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis |
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| Authors: | Kabashi Edor Valdmanis Paul N Dion Patrick Spiegelman Dan McConkey Brendan J Vande Velde Christine Bouchard Jean-Pierre Lacomblez Lucette Pochigaeva Ksenia Salachas Francois Pradat Pierre-Francois Camu William Meininger Vincent Dupre Nicolas Rouleau Guy A |
| Institution: | Center of Excellence in Neuromics, Centre Hospitalier de l'Universite de Montreal, and Department of Medicine, University of Montreal, Montreal, Quebec H2L4MI, Canada. |
| 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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