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
Pathogenic mechanism and modeling of neuroferritinopathy.
Cozzi A et al.
Cellular and Molecular Life Sciences : Cmls, 2021
A 3'-truncating FTL mutation associated with hypoferritinemia without neuroferritinopathy.
Turner S et al.
European Journal of Medical Genetics, 2021
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update. II. Hyperkinetic disorders.
Jellinger KA
Journal of Neural Transmission (vienna, Austria : 1996), 2019
Structure, Function, Folding, and Aggregation of a Neuroferritinopathy-Related Ferritin Variant.
Kuwata T et al.
Biochemistry, 2019
L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases.
Cadenas B et al.
Pharmaceuticals (basel, Switzerland), 2019
Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.
Del-Toro N et al.
Nature Communications, 2019
Iron, Ferritin, Hereditary Ferritinopathy, and Neurodegeneration.
Muhoberac BB et al.
Frontiers in Neuroscience, 2019
FTL mutation in a Chinese pedigree with neuroferritinopathy.
Ni W et al.
Neurology. Genetics, 2016
The Role of Conformational Dynamics and Allostery in the Disease Development of Human Ferritin.
Kumar A et al.
Biophysical Journal, 2015
Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism.
Levi S et al.
Neurobiology of Disease, 2015
Nonsynonymous Single-Nucleotide Variations on Some Posttranslational Modifications of Human Proteins and the Association with Diseases.
Sun B et al.
Computational and Mathematical Methods in Medicine, 2015
A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies.
Moutton S et al.
Parkinsonism & Related Disorders, 2014
Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms.
Levi S et al.
Frontiers in Pharmacology, 2014
Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).
Schneider SA et al.
Current Neuropharmacology, 2013
Abnormal iron homeostasis and neurodegeneration.
Muhoberac BB et al.
Frontiers in Aging Neuroscience, 2013
Mutant ferritin L-chains that cause neurodegeneration act in a dominant-negative manner to reduce ferritin iron incorporation.
Luscieti S et al.
The Journal of Biological Chemistry, 2010
Oxidative stress and cell death in cells expressing L-ferritin variants causing neuroferritinopathy.
Cozzi A et al.
Neurobiology of Disease, 2010
A novel FTL insertion causing neuroferritinopathy.
Batey S et al.
Journal of Medical Genetics, 2010
Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation.
Devos D et al.
Brain : a Journal of Neurology, 2009
A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: description of clinical features and implications for genotype-phenotype correlations.
Kubota A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2009
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation.
Chinnery PF et al.
Brain : a Journal of Neurology, 2007
Characterization of the l-ferritin variant 460InsA responsible of a hereditary ferritinopathy disorder.
Cozzi A et al.
Neurobiology of Disease, 2006
Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.
Maciel P et al.
Neurology, 2005