ArticleThe Journal of experimental medicine2013
Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome.
Article in The Journal of experimental medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 47 citations in OpenAlex.
- Ferritin light-chain contributes to hair cells function and survival.Communications biology · 2026Article
- Article
- Iron imbalance in neurodegeneration.Molecular psychiatry · 2024Review
- Dystonic Leg Cramps and Cataracts with Low Ferritin and Normal Neuroimaging: An Overlapping Spectrum of FTL Gene Related Disorders.Movement disorders clinical practice · 2024Article
- Tetramethylpyrazine inhibits ferroptosis in spinal cord injury by regulating iron metabolism through the NRF2/ARE pathway.Frontiers in pharmacology · 2024Article
- Exploring the genetic and genomic connection underlying neurodegeneration with brain iron accumulation and the risk for Parkinson's disease.NPJ Parkinson's disease · 2023Article
- PPAR Gamma Agonist Leriglitazone Recovers Alterations Due to Pank2-Deficiency in hiPS-Derived Astrocytes.Pharmaceutics · 2023Article
- Increased risk of sleep-related movement disorder in patients withFrontiers in neurology · 2022Article
- A Bioinformatics Perspective on the Dysregulation of Ferroptosis and Ferroptosis-related Immune Cell Infiltration in Alzheimer's Disease.International journal of medical sciences · 2022Article
- Pathogenic mechanism and modeling of neuroferritinopathy.Cellular and molecular life sciences : CMLS · 2021Review
- Regulation of tissue iron homeostasis: the macrophage "ferrostat".JCI insight · 2020Review
- Iron Metabolism in Ferroptosis.Frontiers in cell and developmental biology · 2020Review
- Iron Supply via NCOA4-Mediated Ferritin Degradation Maintains Mitochondrial Functions.Molecular and cellular biology · 2019Article
- L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases.Pharmaceuticals (Basel, Switzerland) · 2019Article
- Targeting iron metabolism in drug discovery and delivery.Nature reviews. Drug discovery · 2017Review
- "Pumping iron"-how macrophages handle iron at the systemic, microenvironmental, and cellular levels.Pflugers Archiv : European journal of physiology · 2017Review
- A Red Carpet for Iron Metabolism.Cell · 2017Review
- Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration.EMBO molecular medicine · 2016Article
- The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases.European journal of human genetics : EJHG · 2015Article
- Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients.Neurobiology of disease · 2015Article
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Authors and funding
11 authors at 6 institutions in 3 countries.
Funding
Abstract
The ubiquitously expressed iron storage protein ferritin plays a central role in maintaining cellular iron homeostasis. Cytosolic ferritins are composed of heavy (H) and light (L) subunits that co-assemble into a hollow spherical shell with an internal cavity where iron is stored. The ferroxidase activity of the ferritin H chain is critical to store iron in its Fe3+ oxidation state, while the L chain shows iron nucleation properties. We describe a unique case of a 23-yr-old female patient affected by a homozygous loss of function mutation in the L-ferritin gene, idiopathic generalized seizures, and atypical restless leg syndrome (RLS). We show that L chain ferritin is undetectable in primary fibroblasts from the patient, and thus ferritin consists only of H chains. Increased iron incorporation into the FtH homopolymer leads to reduced cellular iron availability, diminished levels of cytosolic catalase, SOD1 protein levels, enhanced ROS production and higher levels of oxidized proteins. Importantly, key phenotypic features observed in fibroblasts are also mirrored in reprogrammed neurons from the patient's fibroblasts. Our results demonstrate for the first time the pathophysiological consequences of L-ferritin deficiency in a human and help to define the concept for a new disease entity hallmarked by idiopathic generalized seizure and atypical RLS.
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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.