Although not all patients showed a positive trend of rRNA increase, it is possible that there are regulatory mechanisms in place that are disturbed, as an opposite change in nucleolin levels (transcripts and protein) is also observed between RTT patients with T158M and R255X mutations.
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<i>MECP2</i> Mutation Interrupts Nucleolin-mTOR-P70S6K Signaling in Rett Syndrome Patients.
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Regardless, quantification of nucleolin signals in the R255X patients normalized to GAPDH, H3, or H3AC in the nuclear extracts showed a trend of decreased nucleolin levels, which was more drastic when it was normalized to GAPDH (Figure 3F ).