ALS-linked PFN1 variants exhibit loss and gain of functions in the context of formin-induced actin polymerization

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 affe...

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Veröffentlicht in:Proceedings of the National Academy of Sciences - PNAS 2021-06, Vol.118 (23), p.1-9
Hauptverfasser: 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.
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