Article
ALS-linked PFN1 variants exhibit loss and gain of functions in the context of formin-induced actin polymerization.
Proceedings of the National Academy of Sciences of the United States of America - 8 Jun 2021
Schmidt Eric J, Funes Salome, McKeon Jeanne E, Morgan Brittany R, Boopathy Sivakumar, O'Connor Lauren C, Bilsel Osman, Massi Francesca, Jégou Antoine, Bosco Daryl A
Abstract excerpt
Profilin-1 (PFN1) plays important roles in modulating actin dynamics through binding both monomeric actin and proteins enriched with polyproline motifs. Mutations in PFN1 have been linked to the neurodegenerative disease amyotrophic lateral sclerosis (ALS). However, whether ALS-linked mutations affect PFN1 function has remained unclear. To address this question, we employed an unbiased proteomics analysis in...
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