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).

Autor: 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
Předmět:
Zdroj: Brain Pathology; Jan2024, Vol. 34 Issue 1, p1-6, 6p
Abstrakt: 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]
Databáze: Complementary Index