Article
Profilin 1 with the amyotrophic lateral sclerosis associated mutation T109M displays unaltered actin binding and does not affect the actin cytoskeleton.
BMC neuroscience - 16 Nov 2015
Freischmidt Axel, Schöpflin Marcel, Feiler Marisa S, Fleck Ann-Katrin, Ludolph Albert C, Weishaupt Jochen H
Abstract excerpt
BACKGROUND: The recent identification of several mutations in PFN1, a protein involved in actin dynamics, strengthens the hypothesis that pathology of amyotrophic lateral sclerosis is linked to cytoskeletal defects. Impaired actin binding is a common denominator of several PFN1 mutations associated with amyotrophic lateral sclerosis, although further mechanisms may also contribute to the death of motor neurons....
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