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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
Nature Genetics, Volume 40, No. 5, Year 2008
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Description
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. © 2008 Nature Publishing Group.
Authors & Co-Authors
Kabashi, Edor
Canada, Montreal
University of Montreal
Dion, Patrick A.
Canada, Montreal
University of Montreal
Spiegelman, Dan
Canada, Montreal
University of Montreal
Bouchard, Jean Pierre
Canada, Quebec
Université Laval
Lacomblez, Lucette
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Salachas, François
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Camu, William
Unknown Affiliation
Dupré, Nicolas
Canada, Montreal
University of Montreal
Canada, Quebec
Université Laval
Rouleau, Guy Armand
Canada, Montreal
University of Montreal
Statistics
Citations: 1,268
Authors: 9
Affiliations: 4
Identifiers
Doi:
10.1038/ng.132
ISSN:
15461718