Ontology highlight
ABSTRACT:
SUBMITTER: Mitne-Neto M
PROVIDER: S-EPMC3159551 | biostudies-literature | 2011 Sep
REPOSITORIES: biostudies-literature
Mitne-Neto Miguel M Machado-Costa Marcela M Marchetto Maria C N MC Bengtson Mario H MH Joazeiro Claudio A CA Tsuda Hiroshi H Bellen Hugo J HJ Silva Helga C A HC Oliveira Acary S B AS Lazar Monize M Muotri Alysson R AR Zatz Mayana M
Human molecular genetics 20110617 18
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 forms of ALS besides ALS8. A number of successful drug tests in ALS animal models could ...[more]