Cargando…
Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism
Neuroferritinopathy is a rare, late-onset, dominantly inherited movement disorder caused by mutations in L-ferritin gene. It is characterized by iron and ferritin aggregate accumulation in brain, normal or low serum ferritin levels and high variable clinical feature. To date, nine causative mutation...
Autores principales: | Levi, Sonia, Rovida, Ermanna |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Academic Press
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4642653/ https://www.ncbi.nlm.nih.gov/pubmed/25772441 http://dx.doi.org/10.1016/j.nbd.2015.02.007 |
Ejemplares similares
-
Stem Cell Modeling of Neuroferritinopathy Reveals Iron as a Determinant of Senescence and Ferroptosis during Neuronal Aging
por: Cozzi, Anna, et al.
Publicado: (2019) -
Novel Ferritin Light Chain Gene Mutation in a Korean Patient with Neuroferritinopathy
por: Yoon, So Hoon, et al.
Publicado: (2019) -
MRI Findings in Neuroferritinopathy
por: Ohta, Emiko, et al.
Publicado: (2012) -
Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy
por: Shieh, Joseph T., et al.
Publicado: (2023) -
Neuroferritinopathy: iron in the brain
por: Burn, John
Publicado: (2014)