Time-resolved study of mutant ferritins assembly

DOI

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.

Identifier
DOI https://doi.org/10.15151/ESRF-ES-2118292950
Metadata Access https://icatplus.esrf.fr/oaipmh/request?verb=GetRecord&metadataPrefix=oai_datacite&identifier=oai:icatplus.esrf.fr:inv/2118292950
Provenance
Creator Caterina RICCI ORCID logo; Elena DEL FAVERO ORCID logo; Flavio DI PISA ORCID logo; AUSTIN HUBLEY ORCID logo
Publisher ESRF (European Synchrotron Radiation Facility)
Publication Year 2028
Rights CC-BY-4.0; https://creativecommons.org/licenses/by/4.0
OpenAccess true
Representation
Resource Type Data from large facility measurement; Collection
Discipline Particles, Nuclei and Fields