Ontology highlight
ABSTRACT:
SUBMITTER: Rana A
PROVIDER: S-EPMC2872433 | biostudies-literature | 2010 Apr
REPOSITORIES: biostudies-literature
Rana Anil A Seinen Erwin E Siudeja Katarzyna K Muntendam Remco R Srinivasan Balaji B van der Want Johannes J JJ Hayflick Susan S Reijngoud Dirk-Jan DJ Kayser Oliver O Sibon Ody C M OC
Proceedings of the National Academy of Sciences of the United States of America 20100329 15
Pantothenate kinase-associated neurodegeneration (PKAN), a progressive neurodegenerative disorder, is associated with impairment of pantothenate kinase function. Pantothenate kinase is the first enzyme required for de novo synthesis of CoA, an essential metabolic cofactor. The pathophysiology of PKAN is not understood, and there is no cure to halt or reverse the symptoms of this devastating disease. Recently, we and others presented a PKAN Drosophila model, and we demonstrated that impaired func ...[more]