2026-04-14T08:38:45Zhttps://recercat.cat/oai/request

oai:recercat.cat:2072/4416742026-03-13T07:06:43Zcom_2072_98col_2072_378192

00925njm 22002777a 4500 dc Correa Vela, Marta author Lupo, Vincenzo author Montpeyó Garcia-Moreno, Marta author Sancho, Paula author Marcé-Grau, Anna author Hernández-Vara, Jorge author Darling, Alejandra author Jenkins, Alison author Fernández-Rodríguez, Sandra author Tello, Cristina author Ramírez-Jiménez, Laura author Pérez, Belén author Sánchez-Montáñez, Ángel author Macaya Ruiz, Alfons author Sobrido, María-Jesús author Martinez-Vicente, Marta author Pérez-Dueñas, Belén author Espinós, Carmen author Universitat Autònoma de Barcelona author 2020 Altres ajuts: This work was funded by Instituto de Salud Carlos III; Ministerio de Educación, Cultura y Deporte; Spanish Foundation per Amor a l'Art (FPAA) grant ; Fundació la Marató de TV3 grants 20143130; and 20143131; Generalitat Valenciana grants OP ERDF of Comunitat Valenciana 2014-2020; and PROMETEO/2018/135. 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 iron accumulation. Results: A novel homozygous c.368C. Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect