Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy.
Vincenza GragnanielloDaniela GueraldiAndrea PumaAnna CommoneChiara CazzorlaChristian LoroElena PorcùMaria StornaiuoloPaolo MiglioranzaLeonardo SalviatiRonald J A WandersAlberto B BurlinaPublished in: Orphanet journal of rare diseases (2023)
In our study X-ALD and ZSD patients present an overactivation of MAPK pathways and an inhibition of autophagy. Considering the absence of successful therapies and the growing interest towards new therapies with antioxidants and autophagy inducers, the identification and validation of biomarkers to monitor optimal dosing and biological efficacy of the treatments is of prime interest.