Therapeutic approach with commercial supplements for pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels.
Mónica Álvarez-CórdobaDiana Reche-LópezPaula Cilleros-HolgadoMarta Talaverón-ReyIrene Villalón-GarcíaSuleva Povea-CabelloJuan M Suárez-RiveroAlejandra Suárez-CarrilloManuel Munuera-CabezaRocío Piñero-PérezJosé Antonio Sánchez-AlcázarPublished in: Orphanet journal of rare diseases (2022)
Our results suggest that several commercial compounds are indeed able to significantly correct the mutant phenotype in cellular models of PKAN. These compounds alone or in combinations are of common use in clinical practice and may be useful for the treatment of PKAN patients with residual enzyme expression levels.