TY - GEN AU - Correa-Vela, M. AU - Lupo, V. AU - Montpeyo, M. AU - Sancho, P. AU - Marce-Grau, A. AU - Hernandez-Vara, J. AU - Darling, A. AU - Jenkins, A. AU - Fernandez-Rodriguez, S. AU - Tello, C. AU - Ramirez-Jimenez, L. AU - Perez, B. AU - Sanchez-Montanez, A. AU - Macaya, A. AU - Sobrido Gómez, María Jesús AU - Martinez-Vicente, M. AU - Perez-Duenas, B. AU - Espinos, C. PY - 2020 SN - 2328-9503 UR - http://hdl.handle.net/20.500.11940/16608 AB - FBXO7 is implicated in the ubiquitin-proteasome system and parkin-mediated mitophagy. FBXO7defects cause a levodopa-responsive parkinsonian-pyramidal syndrome(PPS). METHODS: We investigated the disease molecular bases in a child with PPS and brain... KW - F-Box Proteins KW - Consanguinity KW - Adult KW - Humans KW - Epilepsy KW - Young Adult KW - Proteasome Endopeptidase Complex KW - Syndrome KW - Spinocerebellar Degenerations KW - Paraplegia TI - Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect DO - 10.1002/acn3.51095 KW - IDIS VL - 7 ER -