Down regulation of the expression of mitochondrial phosphopantetheinyl-proteins in pantothenate kinase-associated neurodegeneration: pathophysiological consequences and therapeutic perspectives.

Mónica Álvarez-CórdobaMarta Talaverón-ReyIrene Villalón-GarcíaSuleva Povea-CabelloJuan M Suárez-RiveroAlejandra Suárez-CarrilloManuel Munuera-CabezaJoaquín J SalasJosé Antonio Sánchez-Alcázar

Published in: Orphanet journal of rare diseases (2021)

Our results suggest that the expression levels of mitochondrial phosphopantetheinyl-proteins are severely reduced in PKAN cells and that in selected mutations pantothenate increases the expression levels of both PANK2 and mitochondrial phosphopantetheinyl-proteins associated with remarkable improvement of cell pathophysiology.

Keyphrases

poor prognosis
oxidative stress
binding protein
induced apoptosis
cell therapy
cell cycle arrest
cell death
stem cells
protein kinase
pi k akt