Ontology highlight
ABSTRACT:
SUBMITTER: Lambrechts RA
PROVIDER: S-EPMC6895606 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Lambrechts Roald A RA Schepers Hein H Yu Yi Y van der Zwaag Marianne M Autio Kaija J KJ Vieira-Lara Marcel A MA Bakker Barbara M BM Tijssen Marina A MA Hayflick Susan J SJ Grzeschik Nicola A NA Sibon Ody Cm OC
EMBO molecular medicine 20191107 12
PKAN, CoPAN, MePAN, and PDH-E2 deficiency share key phenotypic features but harbor defects in distinct metabolic processes. Selective damage to the globus pallidus occurs in these genetic neurodegenerative diseases, which arise from defects in CoA biosynthesis (PKAN, CoPAN), protein lipoylation (MePAN), and pyruvate dehydrogenase activity (PDH-E2 deficiency). Overlap of their clinical features suggests a common molecular etiology, the identification of which is required to understand their patho ...[more]