Article
Changes in biophysical characteristics of PFN1 due to mutation causing amyotrophic lateral sclerosis.
Metabolic brain disease - 1 Dec 2018
Nekouei Mina, Ghezellou Parviz, Aliahmadi Atousa, Arjmand Sareh, Kiaei Mahmoud, Ghassempour Alireza
Abstract excerpt
Single amino acid mutations in profilin 1 (PFN1) have been found to cause amyotrophic lateral sclerosis (ALS). Recently, we developed a mouse model for ALS using a PFN1 mutation (glycine 118 to valine, G118V), and we are now interested in understanding how PFN1 becomes toxically lethal with only one amino acid substitution. Therefore, we studied mutation-related changes in the PFN1 protein and hypothesized that...
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