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• W2334848655 startingPage "1069" @default.
• W2334848655 abstract "NBIA (neurodegeneration with brain iron accumulation) comprises a heterogeneous group of neurodegenerative diseases having as a common denominator, iron overload in specific brain areas, mainly basal ganglia and globus pallidus. In the past decade a bunch of disease genes have been identified, but NBIA pathomechanisms are still not completely clear. PKAN (pantothenate kinase-associated neurodegeneration), an autosomal recessive disorder with progressive impairment of movement, vision and cognition, is the most common form of NBIA. It is caused by mutations in the PANK2 (pantothenate kinase 2) gene, coding for a mitochondrial enzyme that phosphorylates vitamin B5 in the first reaction of the CoA (coenzyme A) biosynthetic pathway. A distinct form of NBIA, denominated CoPAN (CoA synthase protein-associated neurodegeneration), is caused by mutations in the CoASY (CoA synthase) gene coding for a bifunctional mitochondrial enzyme, which catalyses the final steps of CoA biosynthesis. These two inborn errors of CoA metabolism further support the concept that dysfunctions in CoA synthesis may play a crucial role in the pathogenesis of NBIA." @default.
• W2334848655 created "2016-06-24" @default.
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• W2334848655 date "2014-08-01" @default.
• W2334848655 modified "2023-09-23" @default.
• W2334848655 title "Alteration of the coenzyme A biosynthetic pathway in neurodegeneration with brain iron accumulation syndromes" @default.
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• W2334848655 doi "https://doi.org/10.1042/bst20140106" @default.
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