Article
Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders.
Acta neuropathologica - 1 Apr 2011
Hortobágyi Tibor, Troakes Claire, Nishimura Agnes L, Vance Caroline, van Swieten John C, Seelaar Harro, King Andrew, Al-Sarraj Safa, Rogelj Boris, Shaw Christopher E
Abstract excerpt
Optineurin (OPTN) is a multifunctional protein involved in vesicular trafficking, signal transduction and gene expression. OPTN mutations were described in eight Japanese patients with familial and sporadic amyotrophic lateral sclerosis (FALS, SALS). OPTN-positive inclusions co-localising with TDP-43 were described in SALS and in FALS with SOD-1 mutations, potentially linking two pathologically distinct pathways...
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