Article
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations.
Neurobiology of aging - 1 May 2015
Sabatelli Mario, Zollino Marcella, Conte Amelia, Del Grande Alessandra, Marangi Giuseppe, Lucchini Matteo, Mirabella Massimiliano, Romano Angela, Piacentini Roberto, Bisogni Giulia, Lattante Serena, Luigetti Marco, Rossini Paolo Maria, Moncada Alice
Abstract excerpt
TAR DNA-binding protein 43 (TDP-43) is a major component of the pathologic inclusions observed in the motor neurons of amyotrophic lateral sclerosis (ALS) patients. We examined TDP-43 expression in primary fibroblasts cultures from 22 ALS patients, including cases with SOD1 (n = 4), TARDBP (n = 4), FUS (n = 2), and C9ORF72 (n = 3) mutations and 9 patients without genetic defect. By using a...
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