Associated Papers
Structural Analysis of Variants of the Ferritin Light Chain Protein and Its Relationship with Neuroferritinopathy.
Gómez Hernández M et al.
Acs Chemical Neuroscience, 2024
A newly identified ferritin L-subunit variant results in increased proteasomal subunit degradation, impaired complex assembly, and severe hypoferritinemia.
Shagidov D et al.
American Journal of Hematology, 2024
Pathogenic mechanism and modeling of neuroferritinopathy.
Cozzi A et al.
Cellular and Molecular Life Sciences : Cmls, 2021
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases.
Cadenas B et al.
Pharmaceuticals (basel, Switzerland), 2019
The Role of Conformational Dynamics and Allostery in the Disease Development of Human Ferritin.
Kumar A et al.
Biophysical Journal, 2015
A novel deletion in the iron-response element of the L-ferritin gene, causing hyperferritinaemia cataract syndrome.
Garber I et al.
Annals of Clinical Biochemistry, 2014
Brain iron homeostasis: from molecular mechanisms to clinical significance and therapeutic opportunities.
Singh N et al.
Antioxidants & Redox Signaling, 2014
Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome.
Cozzi A et al.
The Journal of Experimental Medicine, 2013
Two novel mutations in the L ferritin coding sequence associated with benign hyperferritinaemia unmasked by glycosylated ferritin assay.
Thurlow V et al.
Annals of Clinical Biochemistry, 2012
The hereditary hyperferritinemia-cataract syndrome: a family study.
Álvarez-Coca-González J et al.
European Journal of Pediatrics, 2010
A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload.
Kannengiesser C et al.
Haematologica, 2009
Serum ferritin is a biomarker for liver mortality in the Hemochromatosis and Iron Overload Screening Study.
Adams PC et al.
Annals of Hepatology, 0
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