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- Title
Distribution of ferritin complex in the adult brain and altered composition in neuroferritinopathy due to a novel variant in the ferritin heavy chain gene FTH1 (c.409_410del; p.H137Lfs*4).
- Authors
Umathum, Vincent; Weber, Axel; Amsel, Daniel; Alexopoulos, Ioannis; Becker, Christina; Roth, Angela; Günther, Andreas; Selignow, Carmen; Ritschel, Nadja; Nishimura, Anna; Schaiter, Alexander; Németh, Attila; van der Ven, Peter F. M.; Acker, Till; Schänzer, Anne
- Abstract
This article explores the distribution and composition of the ferritin complex in the adult brain and its connection to neuroferritinopathy (NF), a type of neurodegeneration with brain iron accumulation (NBIA). NF is characterized by symptoms like movement disturbances and tremors. The study identifies a novel variant in the ferritin heavy chain gene (FTH1) that is associated with NF and provides insights into the role of ferritin in both healthy and diseased brains.
- Subjects
FERRITIN; LIBRARY users; IRON; ADULTS; LIBRARY resources; RESEARCH personnel
- Publication
Brain Pathology, 2024, Vol 34, Issue 1, p1
- ISSN
1015-6305
- Publication type
Article
- DOI
10.1111/bpa.13176