Details

Autor(en) / Beteiligte

• 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

Titel

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

Ist Teil von

• Annals of clinical and translational neurology, 2020-08, Vol.7 (8), p.1436-1442

Ort / Verlag

United States: John Wiley & Sons, Inc

Erscheinungsjahr

2020

Link zum Volltext

Quelle

Free E-Journal (出版社公開部分のみ）

Beschreibungen/Notizen

• Abstact 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>G (p.S123*) FBXO7 mutation was identified in a child with spastic paraplegia, epilepsy, cerebellar degeneration, levodopa nonresponsive parkinsonism, and brain iron deposition. Patient’s fibroblasts assays demonstrated an absence of FBXO7 RNA expression leading to impaired proteasome degradation and accumulation of poly‐ubiquitinated proteins. Conclusion: This novel FBXO7 phenotype associated with impaired proteasome activity overlaps with neurodegeneration with brain iron accumulation disorders.