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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 Burlina
Published 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.
Keyphrases
  • signaling pathway
  • cell death
  • endoplasmic reticulum stress
  • oxidative stress
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • chronic kidney disease
  • prognostic factors
  • pi k akt