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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).
- Source :
- Brain Pathology; Jan2024, Vol. 34 Issue 1, p1-6, 6p
- Publication Year :
- 2024
-
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. [Extracted from the article]
- Subjects :
- FERRITIN
LIBRARY users
IRON
ADULTS
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RESEARCH personnel
Subjects
Details
- Language :
- English
- ISSN :
- 10156305
- Volume :
- 34
- Issue :
- 1
- Database :
- Complementary Index
- Journal :
- Brain Pathology
- Publication Type :
- Academic Journal
- Accession number :
- 174106867
- Full Text :
- https://doi.org/10.1111/bpa.13176