Article
Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients.
Human molecular genetics - 15 Sept 2011
Mitne-Neto Miguel, Machado-Costa Marcela, Marchetto Maria C N, Bengtson Mario H, Joazeiro Claudio A, Tsuda Hiroshi, Bellen Hugo J, Silva Helga C A, Oliveira Acary S B, Lazar Monize, Muotri Alysson R, Zatz Mayana
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is an incurable neuromuscular disease that leads to a profound loss of life quality and premature death. Around 10% of the cases are inherited and ALS8 is an autosomal dominant form of familial ALS caused by mutations in the vamp-associated protein B/C (VAPB) gene. The VAPB protein is involved in many cellular processes and it likely contributes to the pathogenesis of other...
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