Altered TDP‐43‐dependent splicing in HSPB8‐related distal hereditary motor neuropathy and myofibrillar myopathy
European Journal of Neurology2017Vol. 25(1), pp. 154–163
Citations Over TimeTop 21% of 2017 papers
Andrea Cortese, Matilde Laurá, Carlo Casali, Ichizo Nishino, Yukiko Hayashi, Stefania Magri, Franco Taroni, Cristiana Stuani, Paola Saveri, Maurizio Moggio, Michela Ripolone, A. Prelle, Chiara Pisciotta, Anna Sagnelli, Anna Pichiecchio, Mary M. Reilly, Emanuele Buratti, Davide Pareyson
Abstract
Our study confirmed the role of mutated HSPB8 as a cause of a combined neuromuscular disorder encompassing dHMN and MFM with protein aggregates. We identified impaired RNA metabolism, secondary to TDP-43 loss of function, as a possible pathological mechanism of HSPB8K141E toxicity, leading to muscle and nerve degeneration.
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