Ontology highlight
ABSTRACT:
SUBMITTER: Santambrogio P
PROVIDER: S-EPMC7279353 | biostudies-literature | 2020 May
REPOSITORIES: biostudies-literature
Santambrogio Paolo P Ripamonti Maddalena M Paolizzi Chiara C Panteghini Celeste C Carecchio Miryam M Chiapparini Luisa L Raimondi Marzia M Rubio Alicia A Di Meo Ivano I Cozzi Anna A Taverna Stefano S De Palma Giuseppe G Tiranti Valeria V Levi Sonia S
International journal of molecular sciences 20200522 10
Pantothenate Kinase-associated Neurodegeneration (PKAN) belongs to a wide spectrum of diseases characterized by brain iron accumulation and extrapyramidal motor signs. PKAN is caused by mutations in PANK2, encoding the mitochondrial pantothenate kinase 2, which is the first enzyme of the biosynthesis of Coenzyme A. We established and characterized glutamatergic neurons starting from previously developed PKAN Induced Pluripotent Stem Cells (iPSCs). Results obtained by inductively coupled plasma m ...[more]