Article
Structural basis for mutation-induced destabilization of profilin 1 in ALS.
Proceedings of the National Academy of Sciences of the United States of America - 30 Jun 2015
Boopathy Sivakumar, Silvas Tania V, Tischbein Maeve, Jansen Silvia, Shandilya Shivender M, Zitzewitz Jill A, Landers John E, Goode Bruce L, Schiffer Celia A, Bosco Daryl A
Abstract excerpt
Mutations in profilin 1 (PFN1) are associated with amyotrophic lateral sclerosis (ALS); however, the pathological mechanism of PFN1 in this fatal disease is unknown. We demonstrate that ALS-linked mutations severely destabilize the native conformation of PFN1 in vitro and cause accelerated turnover of the PFN1 protein in cells. This mutation-induced destabilization can account for the high propensity of...
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