Article
Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality.
Human molecular genetics - 1 Apr 2013
Ackermann Bastian, Kröber Sandra, Torres-Benito Laura, Borgmann Anke, Peters Miriam, Hosseini Barkooie Seyyed Mohsen, Tejero Rocio, Jakubik Miriam, Schreml Julia, Milbradt Janine, Wunderlich Thomas F, Riessland Markus, Tabares Lucia, Wirth Brunhilde
Abstract excerpt
F-actin bundling plastin 3 (PLS3) is a fully protective modifier of the neuromuscular disease spinal muscular atrophy (SMA), the most common genetic cause of infant death. The generation of a conditional PLS3-over-expressing mouse and its breeding into an SMA background allowed us to decipher the exact biological mechanism underlying PLS3-mediated SMA protection. We show that PLS3 is a key regulator that restores...
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