C9orf72-associated SMCR8 protein binds in the ubiquitin pathway and with proteins linked with neurological disease.

Finally, a recent RNA-Seq study comparing C9 FTLD and FTLD/motor neuron disease patients with unaffected control individuals reported a highly significant decrease in C9orf72 RNA levels in C9 FTLD samples; however, this data showed no significant change in SMCR8 or WDR41 RNA expression [ 24 ].

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