Both, in GD and FD PBMCs, DDIT3 mRNA levels were downregulated regardless of the type of GBA or GLA mutations ( Fig 2F ), whereas the levels of HSPA5 showed a downward trend in patient samples, but did not reach statistical significance.
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Impaired autophagic and mitochondrial functions are partially restored by ERT in Gaucher and Fabry diseases.
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The sentences
We observed a high variability of Tfam expression in PBMCs of GD and FD patients, but it showed an increasing trend.