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

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.368...

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Detalles Bibliográficos
Autores principales:	Correa‐Vela, Marta, Lupo, Vincenzo, Montpeyó, Marta, Sancho, Paula, Marcé‐Grau, Anna, Hernández‐Vara, Jorge, Darling, Alejandra, Jenkins, Alison, Fernández‐Rodríguez, Sandra, Tello, Cristina, Ramírez‐Jiménez, Laura, Pérez, Belén, Sánchez‐Montáñez, Ángel, Macaya, Alfons, Sobrido, María J., Martinez‐Vicente, Marta, Pérez‐Dueñas, Belén, Espinós, Carmen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Brief Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7448169/ https://www.ncbi.nlm.nih.gov/pubmed/32767480 http://dx.doi.org/10.1002/acn3.51095

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