Article
Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration.
Human molecular genetics - 1 Feb 2009
Simpson Claire L, Lemmens Robin, Miskiewicz Katarzyna, Broom Wendy J, Hansen Valerie K, van Vught Paul W J, Landers John E, Sapp Peter, Van Den Bosch Ludo, Knight Joanne, Neale Benjamin M, Turner Martin R, Veldink Jan H, Ophoff Roel A, Tripathi Vineeta B, Beleza Ana, Shah Meera N, Proitsi Petroula, Van Hoecke Annelies, Carmeliet Peter, Horvitz H Robert, Leigh P Nigel, Shaw Christopher E, van den Berg Leonard H, Sham Pak C, Powell John F, Verstreken Patrik, Brown Robert H, Robberecht Wim, Al-Chalabi Ammar
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a spontaneous, relentlessly progressive motor neuron disease, usually resulting in death from respiratory failure within 3 years. Variation in the genes SOD1 and TARDBP accounts for a small percentage of cases, and other genes have shown association in both candidate gene and genome-wide studies, but the genetic causes remain largely unknown. We have performed two...
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