2026-06-09T00:21:13Z https://icatplus.esrf.fr/oaipmh/request

oai:icatplus.esrf.fr:inv/2118292950 2025-05-30T06:00:13.817Z

4.2 EI 10.15151/ESRF-ES-2118292950 Caterina RICCI Caterina Ricci 0000-0003-0573-4065 Elena DEL FAVERO Elena Del Favero 0000-0002-6584-1869 Elena DEL FAVERO Elena Del Favero 0000-0002-6584-1869 Flavio DI PISA Flavio Di Pisa 0000-0003-2302-1464 Flavio DI PISA Flavio Di Pisa 0000-0003-2302-1464 AUSTIN HUBLEY Austin Hubley 0000-0001-6326-1951 Caterina RICCI Caterina Ricci 0000-0003-0573-4065 Example Institute 2028 Data from large facility measurement 2025-05-28T06:00:00Z/2025-05-30T06:00:00Z 2025-05-30T06:00:00Z I CC-BY-4.0 NF is a rare disorder caused by the aberrant production of mutated ferritins, leading to iron accumulation in the brain, particularly in the basal ganglia. Despite being characterized by severe extrapyramidal neurological features (such as focal onset dystonia, chorea, and parkinsonism), there is currently no cure for NF. The molecular mechanisms that trigger neurodegeneration and the vulnerability of cells expressing L-ferritin mutants to ferroptosis remain inadequately understood, posing a significant challenge for developing effective treatments. A time resolved study of the stability of mutated ferritins compared with the WT and the characterization of the iron loading process and of iron induced aggregates would give some insight to support early diagnosis and the development of effective therapies.