Article title: The small fiber neuropathy NaV1.7 I228M mutation: impaired neurite integrity via bioenergetic and mitotoxic mechanisms, and protection by dexpramipexole
Authors: Seong IL Lee, Janneke G.J. Hoeijmakers, Catharina G. Faber, Ingemar. S. J. Merkies, Giuseppe Lauria, Stephen G. Waxman
From the authors: “Our result suggests that, in addition to interventions that selectively reduce ionic imbalances caused by mutant Nav1.7 channels, an alternative therapeutic strategy might target the bioenergetic burden and mitochondrial dysfunction that occur in [small fiber neuropathy] associated with Nav1.7 gain-of-function mutations.”
This study is highlighted as one of February’s “best of the best” as part of the American Physiological Society’s APSselect program.
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