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- W2012100870 abstract "A new human disease akin to Huntington's disease and parkinsonism has been identified that is caused by the abnormal formation of ferritin aggregates in the basal ganglia of the brain. Curtis et al. (Nat. Genet. 28, 350–353) have now reported a mutation in the ferritin l-chain (19q13.3) that causes a dominant adult-onset neuropathology which they have coined as neuroferritinopathy. Symptoms of extrapyramidal dysfunction such as dystonia, spacticity and rigidity characterized this novel disease. In brain, ferritin (FT) functions as an intracellular store and detoxification site for iron. It is likely, the authors suggest, that the mutant l-chain discovered could increase its susceptibility to proteolysis and that the consequent release of highly toxic iron from putative storage proteins might induce oxidative stress and neuronal cell death. SS" @default.
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- W2012100870 date "2001-12-01" @default.
- W2012100870 modified "2023-09-24" @default.
- W2012100870 title "A case of neuroferritinopathy" @default.
- W2012100870 doi "https://doi.org/10.1016/s0166-2236(00)02082-8" @default.
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