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

Marta Correa-VelaVincenzo LupoMarta MontpeyóPaula SanchoAnna Marcé-GrauJorge Hernández-VaraAlejandra DarlingAlison JenkinsSandra Fernández-RodríguezCristina TelloLaura Ramírez-JiménezBelén PérezÁngel Sánchez-MontáñezAlfons MacayaMaría J SobridoMarta Martinez-VicenteBelén Pérez-DueñasCarmen Espinós

Published in: Annals of clinical and translational neurology (2020)

This novel FBXO7 phenotype associated with impaired proteasome activity overlaps with neurodegeneration with brain iron accumulation disorders.

Keyphrases

resting state
white matter
functional connectivity
cerebral ischemia
multiple sclerosis