Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect

Marta Correa‐Vela, Vincenzo Lupo, Marta Montpeyó, Paula Sancho, Anna Marcé‐Grau, Jorge Hernández‐Vara, Alejandra Darling, Alison Jenkins, Sandra Fernández‐Rodríguez, Cristina Tello, Laura Ramírez‐Jiménez, Belén Pérez (+6 others)
2020 Annals of Clinical and Translational Neurology  
FBXO7 is implicated in the ubiquitin-proteasome system and parkin-mediated mitophagy. FBXO7defects cause a levodopa-responsive parkinsonian-pyramidal syndrome(PPS).
doi:10.1002/acn3.51095 pmid:32767480 fatcat:qoa243so7zgppe3vxt4mp3ai3q