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2015 | 75 | Supl. |
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Alteration of coenzyme a biosynthetic pathway in neurodegeneration with brain iron acumulation syndromes

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EN
Abstrakty
EN
Neurodegeneration with brain iron accumulation (NBIA) comprehends 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 last decade a bunch of disease genes have been identified, but NBIA pathomechanisms are still not completely clear. Pantothenate kinase-associated neurodegeneration (PKAN), 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 pantothenate kinase 2 gene (PANK2), coding for a mitochondrial enzyme that phosphorylates vitamin B5 in the first reaction of the coenzyme A (CoA) biosynthetic pathway. A distinct form of NBIA, denominated CoPAN, is caused by mutations in Coenzyme A synthase gene (COASY) coding for a bi-functional mitochondrial enzyme, which catalyses final steps of the CoA biosynthesis. These two inborn error of CoA metabolism further supports the concept that dysfunctions in CoA synthesis may play a crucial role in the pathogenesis of NBIA
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-
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75
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Opis fizyczny
p.S27-S28
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autor
  • Unit of Molecular Neurogenetics, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
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Bibliografia
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bwmeta1.element.agro-43504e04-438f-453e-99d5-39d70588ef0e
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