title: TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.
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.
authors: Center of Excellence in Neuromics, Centre Hospitalier de l'Universite de Montreal, and Department of Medicine, University of Montreal, Montreal, Quebec H2L4MI, Canada.
authors: Edor
authors: E
authors: Kabashi
authors: Paul N
authors: PN
authors: Valdmanis
authors: Patrick
authors: P
authors: Dion
authors: Dan
authors: D
authors: Spiegelman
authors: Brendan J
authors: BJ
authors: McConkey
authors: Christine
authors: C
authors: Vande Velde
authors: Jean-Pierre
authors: JP
authors: Bouchard
authors: Lucette
authors: L
authors: Lacomblez
authors: Ksenia
authors: K
authors: Pochigaeva
authors: Francois
authors: F
authors: Salachas
authors: Pierre-Francois
authors: PF
authors: Pradat
authors: William
authors: W
authors: Camu
authors: Vincent
authors: V
authors: Meininger
authors: Nicolas
authors: N
authors: Dupre
authors: Guy A
authors: GA
authors: Rouleau
mesh_terms: D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000378:metabolism; D001483:Base Sequence; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D014176:Protein Biosynthesis
chemical_list: D004268:DNA-Binding Proteins