EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.

In support of our previous findings, we detected a highly significant increase in expression of MBP (>100-fold, P =0.013) ( Fig. 5c ), which led to increased MBP protein levels in differentiated oligodendroglia cells detected by immunostaining and immunoblotting ( Fig. 5h–j ).

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