TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.
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.
Kabashi
Edor
E
Center of Excellence in Neuromics, Centre Hospitalier de l'Universite de Montreal, and Department of Medicine, University of Montreal, Montreal, Quebec H2L4MI, Canada.
Valdmanis
Paul N
PN
Dion
Patrick
P
Spiegelman
Dan
D
McConkey
Brendan J
BJ
Vande Velde
Christine
C
Bouchard
Jean-Pierre
JP
Lacomblez
Lucette
L
Pochigaeva
Ksenia
K
Salachas
Francois
F
Pradat
Pierre-Francois
PF
Camu
William
W
Meininger
Vincent
V
Dupre
Nicolas
N
Rouleau
Guy A
GA
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
D004268:DNA-Binding Proteins