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A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2

Pantothenate kinase-associated neurodegeneration (PKAN) is a progressive neurodegenerative disease caused by mutations in the pantothenate kinase 2 (PANK2) gene and associated with iron deposition in basal ganglia. Pantothenate kinase isoforms catalyze the first step in coenzyme A (CoA) biosynthesis...

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Detalles Bibliográficos
Autores principales: Werning, Maike, Dobretzberger, Verena, Brenner, Martin, Müllner, Ernst W., Mlynek, Georg, Djinovic-Carugo, Kristina, Baron, David M., Fragner, Lena, Bischoff, Almut T., Büchner, Boriana, Klopstock, Thomas, Weckwerth, Wolfram, Salzer, Ulrich
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8869601/
https://www.ncbi.nlm.nih.gov/pubmed/35204826
http://dx.doi.org/10.3390/biom12020325