ReviewNeurobiology of disease2015
Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism.
Review in Neurobiology of disease, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 63 citations in OpenAlex.
- Meta-analysis of the relationship between amyotrophic lateral sclerosis and susceptibility to serum ferritin level elevation.Neurosciences (Riyadh, Saudi Arabia) · 2016Pooled it
- Multimodal microscopic and spectroscopic characterisation of heterogeneous iron oxyhydroxides in the human globus pallidus.Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine · 2026Article
- Cavity acidification limits ferritin iron biomineralization.Journal of inorganic biochemistry · 2026Article
- Acidosis, Iron Dyshomeostasis and Inflammatory Injury.International journal of molecular sciences · 2026Review
- Review
- Neuroferritinopathy Human-Induced Pluripotent Stem Cell-Derived Astrocytes Reveal an Active Role of Free Intracellular Iron in Astrocyte Reactivity.International journal of molecular sciences · 2025Article
- Unraveling the inflammation-degeneration tangle in early MS: preliminary insights from ferritin, neurogranin, TREM2, and retinal ganglion cell layer.Journal of neurology · 2025Article
- The Neural Palette of Heme: Altered Heme Homeostasis Underlies Defective Neurotransmission, Increased Oxidative Stress, and Disease Pathogenesis.Antioxidants (Basel, Switzerland) · 2024Review
- Pathological Involvement of Protein Phase Separation and Aggregation in Neurodegenerative Diseases.International journal of molecular sciences · 2024Review
- Postencephalitic Parkinsonism: Unique Pathological and Clinical Features-Preliminary Data.Cells · 2024Article
- 7T MRI detects widespread brain iron deposition in neuroferritinopathy.Annals of clinical and translational neurology · 2024Article
- Iron imbalance in neurodegeneration.Molecular psychiatry · 2024Review
- A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels.Nature metabolism · 2023Article
- Heterozygous Nonsense Variants in the Ferritin Heavy Chain GenemedRxiv : the preprint server for health sciences · 2023Article
- Pallidal degenerations and related disorders: an update.Journal of neural transmission (Vienna, Austria : 1996) · 2022Review
- Structural Insights Into the Effects of Interactions With Iron and Copper Ions on Ferritin From the Blood ClamFrontiers in molecular biosciences · 2022Article
- The molecular biology of tubulinopathies: Understanding the impact of variants on tubulin structure and microtubule regulation.Frontiers in cellular neuroscience · 2022Review
- New Insights into the Role of Ferritin in Iron Homeostasis and Neurodegenerative Diseases.Molecular neurobiology · 2021Review
- Pathogenic mechanism and modeling of neuroferritinopathy.Cellular and molecular life sciences : CMLS · 2021Review
- Regulation of tissue iron homeostasis: the macrophage "ferrostat".JCI insight · 2020Review
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
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 mutations have been identified and eight of them are frameshift mutations determined by nucleotide(s) insertion in the exon 4 of L-ferritin gene altering the structural conformation of the C-terminus of the L-ferritin subunit. Acting in a dominant negative manner, mutations are responsible for an impairment of the iron storage efficiency of ferritin molecule. Here, we review the main characteristics of neuroferritinopathy and present a computational analysis of some representative recently defined mutations with the purpose to gain new information about the pathogenetic mechanism of the disorder. This is particularly important as neuroferritinopathy can be considered an interesting model to study the relationship between iron, oxidative stress and neurodegeneration.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.