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 degen...

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Veröffentlicht in:	Orphanet journal of rare diseases 2021-05, Vol.16 (1), p.201-201, Article 201
Hauptverfasser:	Alvarez-Cordoba, Monica, Talaveron-Rey, Marta, Villalon-Garcia, Irene, Povea-Cabello, Suleva, Suarez-Rivero, Juan M., Suarez-Carrillo, Alejandra, Munuera-Cabeza, Manuel, Salas, Joaquin J., Sanchez-Alcazar, Jose A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Acyl carrier protein Atrophy Biosynthesis Coenzyme A Cofactors Dehydrogenases Development and progression Dystonia Electron transport chain Enzymes Fatty acids Fatty-acid synthase Fibroblasts Gene expression Genetic aspects Genetics & Heredity Health aspects Induced neurons Intermediates Iron Kinases Life Sciences & Biomedicine Lysine Mammals Medical research Medicine, Research & Experimental Membrane proteins Membranes Metabolism Metabolites Mitochondria Mutation Neurodegeneration Neurological diseases Optic nerve Pantothenate Pantothenate kinase Pantothenate kinase-associated neurodegeneration Proteins Rare diseases Research & Experimental Medicine Retinal degeneration Science & Technology Spasticity Tetrahydrofolic acid Transferases
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