Article
Cytoplasmic accumulation of TDP-43 in circulating lymphomonocytes of ALS patients with and without TARDBP mutations.
Acta neuropathologica - 1 May 2011
De Marco Giovanni, Lupino Elisa, Calvo Andrea, Moglia Cristina, Buccinnà Barbara, Grifoni Silvia, Ramondetti Cristina, Lomartire Annarosa, Rinaudo Maria Teresa, Piccinini Marco, Giordana Maria Teresa, Chiò Adriano
Abstract excerpt
TDP-43, encoded by TARDBP, is a ubiquitously expressed, primarily nuclear protein. In recent years, TDP-43 has been identified as the major pathological protein in ALS due to its mislocalisation in the cytoplasm of motor neurons of patients with and without TARDBP mutations and expression in forms that do not match its predicted molecular weight. In this study, the TDP-43 profile was investigated using western...
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