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

BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic neurological disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive spasticity, dystonia, muscle rigidity, neuropsychiatric symptoms, and retinal dege...

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Veröffentlicht in:Orphanet J Rare Dis
Hauptverfasser: Álvarez-Córdoba, Mónica, Talaverón-Rey, Marta, Villalón-García, Irene, Povea-Cabello, Suleva, Suárez-Rivero, Juan M., Suárez-Carrillo, Alejandra, Munuera-Cabeza, Manuel, Salas, Joaquín J., Sánchez-Alcázar, José A.
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2021
Schlagworte:
Research
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8101147/
https://ncbi.nlm.nih.gov/pubmed/33952316
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01823-3
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