Analysis of Ferritins in Lymphoblastoid Cell Lines and in the Lens of Subjects With Hereditary Hyperferritinemia-Cataract Syndrome

The ferritins: molecular properties, iron storage function and cellular regulation

Harrison, P. M., & Arosio, P. (1996) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/0005-2728(96)00022-9 · Cited by 2,667 · see citing works

Regulating the fate of mRNA: the control of cellular iron metabolism

Klausner, R. D., Rouault, T. A., & Harford, J. B. (1993) · Cell · doi:10.1016/0092-8674(93)90046-s · Cited by 1,210 · see citing works

Oxidative stress‐induced cataract: mechanism of action

Spector, A. (1995) · The FASEB Journal · doi:10.1096/fasebj.9.12.7672510 · Cited by 896 · see citing works

Solving the structure of human H ferritin by genetically engineering intermolecular crystal contacts

Lawson, D. M., Artymiuk, P. J., Yewdall, S. J., Smith, J. M. A., Livingstone, J. C., Treffry, A., Luzzago, A., Levi, S., Arosio, P., Cesareni, G., et al. (1991) · Nature · doi:10.1038/349541a0 · Cited by 777 · see citing works

Mechanism of ferritin iron uptake: activity of the H-chain and deletion mapping of the ferro-oxidase site. A study of iron uptake and ferro-oxidase activity of human liver, recombinant H-chain ferritins, and of two H-chain deletion mutants.

Levi, S., Luzzago, A., Cesareni, G., Cozzi, A., Franceschinelli, F., Albertini, A., & Arosio, P. (1988) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)81326-1 · Cited by 378 · see citing works

Comparison of the three-dimensional structures of recombinant human H and horse L ferritins at high resolution 1 1Edited by R. Huber

Hempstead, P. D., Yewdall, S. J., Fernie, A. R., Lawson, D. M., Artymiuk, P. J., Rice, D. W., Ford, G. C., & Harrison, P. M. (1997) · Journal of Molecular Biology · doi:10.1006/jmbi.1997.0970 · Cited by 318 · see citing works

Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract

Beaumont, C., Leneuve, P., Devaux, I., Scoazec, J.-Y., Berthier, M., Loiseau, M.-N., Grandchamp, B., & Bonneau, D. (1995) · Nature Genetics · doi:10.1038/ng1295-444 · Cited by 293 · see citing works

Evidence of H- and L-chains have co-operative roles in the iron-uptake mechanism of human ferritin

Levi, S., Yewdall, S. J., Harrison, P. M., Santambrogio, P., Cozzi, A., Rovida, E., Albertini, A., & Arosio, P. (1992) · Biochemical Journal · doi:10.1042/bj2880591 · Cited by 268 · see citing works

Molecular basis for the recently described hereditary hyperferritinemia- cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation") [see comments]

Girelli, D., Corrocher, R., Bisceglia, L., Olivieri, O., De Franceschi, L., Zelante, L., & Gasparini, P. (1995) · Blood · doi:10.1182/blood.v86.11.4050.bloodjournal86114050 · Cited by 196 · see citing works

Role for NF-κB in the regulation of ferritin H by tumor necrosis factor-α

Kwak, E. L., Larochelle, D. A., Beaumont, C., Torti, S. V., & Torti, F. M. (1995) · Journal of Biological Chemistry · doi:10.1074/jbc.270.25.15285 · Cited by 189 · see citing works

Production and characterization of recombinant heteropolymers of human ferritin H and L chains

Santambrogio, P., Levi, S., Cozzi, A., Rovida, E., Albertini, A., & Arosio, P. (1993) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)31451-0 · Cited by 161 · see citing works

Hereditary Hyperferritinemia-Cataract Syndrome: Relationship Between Phenotypes and Specific Mutations in the Iron-Responsive Element of Ferritin Light-Chain mRNA

Cazzola, M., Bergamaschi, G., Tonon, L., Arbustini, E., Grasso, M., Vercesi, E., Barosi, G., Bianchi, P. E., Cairo, G., & Arosio, P. (1997) · Blood · doi:10.1182/blood.v90.2.814 · Cited by 156 · see citing works

A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract

Girelli, D., OUVIERI, O., Franceschi, L. D., Corrocher, R., Bergamaschi, G., & Cazzola, M. (1995) · British Journal of Haematology · doi:10.1111/j.1365-2141.1995.tb05218.x · Cited by 114 · see citing works

Characterization of Serum Ferritin in Iron Overload: Possible Identity to Natural Apoferritin

Arosio, P., YOKOTA, M., & Drysdale, J. (1977) · British Journal of Haematology · doi:10.1111/j.1365-2141.1977.tb00640.x · Cited by 107 · see citing works

Immunochemical characterization of human liver and heart ferritins with monoclonal antibodies

Luzzago, A., Arosio, P., Iacobello, C., Ruggeri, G., Capucci, L., Brocchi, E., Simone, F., Gamba, D., Gabri, E., Levi, S., et al. (1986) · Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology · doi:10.1016/0167-4838(86)90147-0 · Cited by 93 · see citing works

Overexpression of the ferritin H subunit in cultured erythroid cells changes the intracellular iron distribution

Picard, V., Renaudie, F., Porcher, C., Hentze, M. W., Grandchamp, B., & Beaumont, C. (1996) · Blood · doi:10.1182/blood.v87.5.2057.2057 · Cited by 89 · see citing works

Oxidative modification of lens crystallins by H2O2 and chelated iron

Zigler, J. S., Huang, Q.-L., & Du, X.-Y. (1989) · Free Radical Biology and Medicine · doi:10.1016/0891-5849(89)90025-7 · Cited by 85 · see citing works

Bilateral cataract and high serum ferritin: a new dominant genetic disorder?

Bonneau, D., Winter-Fuseau, I., Loiseau, M.-N., Amati‐Bonneau, P., Berthier, M., Oriot, D., & Beaumont, C. (1995) · Journal of Medical Genetics · doi:10.1136/jmg.32.10.778 · Cited by 78 · see citing works

Role of H and L Subunits in Mouse Ferritin

Rucker, P. J., Torti, F. M., & Torti, S. V. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.52.33352 · Cited by 78 · see citing works

Hereditary Hyperferritinemia-Cataract Syndrome Caused by a 29-Base Pair Deletion in the Iron Responsive Element of Ferritin L-Subunit Gene

Girelli, D., Corrocher, R., Bisceglia, L., Olivieri, O., Zelante, L., Panozzo, G., & Gasparini, P. (1997) · Blood · doi:10.1182/blood.v90.5.2084 · Cited by 77 · see citing works

A Point Mutation in the Bulge of the Iron-Responsive Element of the L Ferritin Gene in Two Families With the Hereditary Hyperferritinemia-Cataract Syndrome

Martín, M. E., Fargion, S. R., Brissot, P., Pellat, B., & Beaumont, C. (1998) · Blood · doi:10.1182/blood.v91.1.319 · Cited by 76 · see citing works

Transferrin receptor gene expression during rat liver regeneration. Evidence for post-transcriptional regulation by iron regulatory factorB, a second iron-responsive element-binding protein.

Cairo, G., & Pietrangelo, A. (1994) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)37386-6 · Cited by 74 · see citing works

Characterization of human ferritin H chain synthetized in Escherichia coli

Levi, S., Cesareni, G., Arosio, P., Lorenzetti, R., Soria, M. R., Sollazzo, M., Albertini, A., & Cortese, R. (1987) · Gene · doi:10.1016/0378-1119(87)90315-5 · Cited by 58 · see citing works

Identification of Hydrogen Peroxide Oxidation Sites of αA- and αB-Crystallins

Smith, J. B., Jiang, X., & Abraham, E. C. (1997) · Free Radical Research · doi:10.3109/10715769709097789 · Cited by 51 · see citing works

Ferritin: structure, function, and regulation.

Ec, T. (1983) · PubMed · Cited by 50 · see citing works

Iron binding proteins without cofactors or sulfur clusters.

Theil, E. C., Eichhorn, G. L., & Marzilli, L. G. (1983) · PubMed · Cited by 45 · see citing works

Transient overexpression of human H- and L-ferritin chains in COS cells

Corsi, B., Perrone, F., Bourgeois, M., Beaumont, C., Panzeri, C., Cozzi, A., Sangregorio, R., Santambrogio, P., Albertini, A., Arosio, P., et al. (1998) · Biochemical Journal · doi:10.1042/bj3300315 · Cited by 43 · see citing works

A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome [letter; comment]

Aguilar‐Martinez, P., Biron, C., Masmejean, C., Jeanjean, P., & Schved, J. (1996) · Blood · doi:10.1182/blood.v88.5.1895.1895 · Cited by 42 · see citing works

Hyperferritinaemia in the absence of iron overload

Arnold, J. D., Mumford, A. D., Lindsay, J., Hegde, U. M., Hagan, M., & Hawkins, J. R. (1997) · Gut · doi:10.1136/gut.41.3.408 · Cited by 36 · see citing works

Development of an immunoassay for all human isoferritins, and its application to serum ferritin evaluation

Cozzi, A., Levi, S., Bazzigaluppi, E., Ruggeri, G., & Arosio, P. (1989) · Clinica Chimica Acta · doi:10.1016/0009-8981(89)90052-1 · Cited by 34 · see citing works

Regulation of Ferritin Levels in Cultured Lens Epithelial Cells

McGahan, M. C., Harned, J., Grimes, A. M., & Fleisher, L. N. (1994) · Experimental Eye Research · doi:10.1006/exer.1994.1140 · Cited by 34 · see citing works

Comparison of Phacoemulsification and Planned Extracapsular Extraction

Ohrloff, C., & Zubcov, A. A. (2010) · Ophthalmologica · doi:10.1159/000310859 · Cited by 32 · see citing works

A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome [letter; comment]

Aguilar‐Martinez, P., Biron, C., Masmejean, C., et al. (1996) · Blood · doi:10.1182/blood.v88.5.1895.bloodjournal8851895 · Cited by 29 · see citing works

Hereditäres Hyperferritinämie-Katarakt-Syndrom

Merkt, J. (2008) · DMW - Deutsche Medizinische Wochenschrift · doi:10.1055/s-2008-1047644 · Cited by 18 · see citing works

Structure and Function of the Iron-Responsive Element from Human Ferritin L Chain mRNA

Mikulits, W., Sauer, T., Infante, A. A., García‐Sanz, J. A., & Müllner, E. W. (1997) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1997.6647 · Cited by 12 · see citing works

Negative and Positive Elements in the Promoter Region of the Human Apoferritin L Gene

Dagostino, P., Faniello, M. C., Quaresima, B., Bevilacqua, M. A., Tiano, M. T., Ammendola, R., Cimino, F., & Costanzo, F. S. (1995) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1995.2470 · Cited by 6 · see citing works

Ferritins: A family of molecules for iron storage, antioxidation and more

Arosio, P., Ingrassia, R., & Cavadini, P. (2009) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2008.09.004 · Cited by 886 · see citing works

I RON R EGULATORY P ROTEINS AND THE M OLECULAR C ONTROL OF M AMMALIAN I RON M ETABOLISM

Eisenstein, R. S. (2000) · Annual Review of Nutrition · doi:10.1146/annurev.nutr.20.1.627 · Cited by 652 · see citing works

Ferritin, iron homeostasis, and oxidative damage1,2 1Guest Editor: Mario Comporti 2This article is part of a series of reviews on “Iron and Cellular Redox Status.” The full list of papers may be found on the homepage of the journal.

Arosio, P., & Levi, S. (2002) · Free Radical Biology and Medicine · doi:10.1016/s0891-5849(02)00842-0 · Cited by 543 · see citing works

Intracellular iron transport and storage: from molecular mechanisms to health implications

Mackenzie, E. L., Iwasaki, K., & Tsuji, Y. (2008) · Antioxidants & Redox Signaling · doi:10.1089/ars.2007.1893 · Cited by 526 · see citing works

The IRP/IRE system in vivo: insights from mouse models

Wilkinson, N., & Pantopoulos, K. (2014) · Frontiers in Pharmacology · doi:10.3389/fphar.2014.00176 · Cited by 366 · see citing works

Molecular control of vertebrate iron homeostasis by iron regulatory proteins

Wallander, M. L., Leibold, E. A., & Eisenstein, R. S. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2006.05.004 · Cited by 287 · see citing works

Early Embryonic Lethality of H Ferritin Gene Deletion in Mice

Ferreira, C., Bucchini, D., Martin, M.-E., Levi, S., Arosio, P., Grandchamp, B., & Beaumont, C. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.275.5.3021 · Cited by 275 · see citing works

Overexpression of Wild Type and Mutated Human Ferritin H-chain in HeLa Cells

Cozzi, A., Corsi, B., Levi, S., Santambrogio, P., Albertini, A., & Arosio, P. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.m003797200 · Cited by 242 · see citing works

Translational pathophysiology: a novel molecular mechanism of human disease

Cazzola, M., & Skoda, R. C. (2000) · Blood · doi:10.1182/blood.v95.11.3280 · Cited by 222 · see citing works

A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload.

Kato, J., Fujikawa, K., Kanda, M., Fukuda, N., Sasaki, K., Takayama, T., Kobune, M., Takada, K., Takimoto, R., Hamada, H., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/321261 · Cited by 211 · see citing works

Human Mitochondrial Ferritin Expressed in HeLa Cells Incorporates Iron and Affects Cellular Iron Metabolism

Corsi, B., Cozzi, A., Arosio, P., Drysdale, J., Santambrogio, P., Campanella, A., Biasiotto, G., Albertini, A., & Levi, S. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m105372200 · Cited by 164 · see citing works

Crystal Structure of Human Iron Regulatory Protein 1 as Cytosolic Aconitase

Dupuy, J., Volbeda, A., Carpentier, P., Darnault, C., Moulis, J., & Fontecilla-Camps, J. C. (2006) · Structure · doi:10.1016/j.str.2005.09.009 · Cited by 145 · see citing works

Analysis of the biologic functions of H- and L-ferritins in HeLa cells by transfection with siRNAs and cDNAs: evidence for a proliferative role of L-ferritin

Cozzi, A., Corsi, B., Levi, S., Santambrogio, P., Biasiotto, G., & Arosio, P. (2004) · Blood · doi:10.1182/blood-2003-06-1842 · Cited by 132 · see citing works

Clinical Severity and Thermodynamic Effects of Iron-responsive Element Mutations in Hereditary Hyperferritinemia-Cataract Syndrome

Allerson, C. R., Cazzola, M., & Rouault, T. A. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.37.26439 · Cited by 122 · see citing works

H ferritin knockout mice: a model of hyperferritinemia in the absence of iron overload

Ferreira, C., Santambrogio, P., Martin, M.-E., Andrieu, V., Feldmann, G., Hénin, D., & Beaumont, C. (2001) · Blood · doi:10.1182/blood.v98.3.525 · Cited by 90 · see citing works

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., Jouanolle, A., Hetet, G., Mosser, A., Muzeau, F., Henry, D., Bardou‐Jacquet, E., Mornet, M., Brissot, P., Deugnier, Y., et al. (2009) · Haematologica · doi:10.3324/haematol.2008.000125 · Cited by 85 · see citing works

Neuroferritinopathy: a neurodegenerative disorder associated with L-ferritin mutation

Levi, S., Cozzi, A., & Arosio, P. (2005) · Best Practice & Research Clinical Haematology · doi:10.1016/j.beha.2004.08.021 · Cited by 84 · see citing works

Intracellular iron status as a hallmark of mammalian cell susceptibility to oxidative stress: a study of L5178Y mouse lymphoma cell lines differentially sensitive to H2O2

Lipiński, P., Drapier, J., Oliveira, L., Retmańska, H., Sochanowicz, B., & Kruszewski, M. K. (2000) · Blood · doi:10.1182/blood.v95.9.2960.009k13_2960_2966 · Cited by 73 · see citing works

Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome.

Brooks, D. G., Manova-Todorova, K. O., Farmer, J., Lobmayr, L., Wilson, R. B., Eagle, R. C., Pierre, T. G. S., & Stambolian, D. (2002) · PubMed · Cited by 72 · see citing works

Hereditary Hyperferritinemia-Cataract Syndrome

Craig, J. E. (2003) · Archives of Ophthalmology · doi:10.1001/archopht.121.12.1753 · Cited by 69 · see citing works

Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia–cataract syndrome

Girelli, D., Bozzini, C., Zecchina, G., Tinazzi, E., Bosio, S., Piperno, A., Ramenghi, U., Peters, J., Levi, S., Camaschella, C., et al. (2001) · British Journal of Haematology · doi:10.1046/j.1365-2141.2001.03116.x · Cited by 67 · see citing works

Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism

Levi, S., & Rovida, E. (2015) · Neurobiology of Disease · doi:10.1016/j.nbd.2015.02.007 · Cited by 65 · see citing works

The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin

Mumford, A. D. (2000) · British Journal of Ophthalmology · doi:10.1136/bjo.84.7.697 · Cited by 59 · see citing works

Iron, the retina and the lens: A focused review

García-Castiñeiras, S. (2010) · Experimental Eye Research · doi:10.1016/j.exer.2010.03.003 · Cited by 58 · see citing works

Disorders associated with systemic or local iron overload: from pathophysiology to clinical practice

Sebastiani, G., & Pantopoulos, K. (2011) · Metallomics · doi:10.1039/c1mt00082a · Cited by 57 · see citing works

Description of a New Mutation in the L-Ferritin Iron-Responsive Element Associated With Hereditary Hyperferritinemia-Cataract Syndrome in a Spanish Family

Balas, A., Avilés, M. J., García‐Sánchez, F., Vicario, J. L., & Cervera, Á. (1999) · Blood · doi:10.1182/blood.v93.11.4020 · Cited by 54 · see citing works

Mutant Ferritin L-chains That Cause Neurodegeneration Act in a Dominant-negative Manner to Reduce Ferritin Iron Incorporation

Luscieti, S., Santambrogio, P., Langlois d'Estaintot, B., Granier, T., Cozzi, A., Poli, M., Gallois, B., Finazzi, D., Cattaneo, A., Levi, S., et al. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.096404 · Cited by 51 · see citing works

Distribution of Ferritin and Redox-active Transition Metals in Normal and Cataractous Human Lenses

Garner, B., Roberg, K. B., Qian, M., Eaton, J. W., & Truscott, R. J. W. (2000) · Experimental Eye Research · doi:10.1006/exer.2000.0912 · Cited by 51 · see citing works

Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia-cataract syndrome.

Cicilano, M., Zecchina, G., Roetto, A., Bosio, S., Infelise, V., Stefani, S., Mazza, U., & Camaschella, C. (1999) · PubMed · Cited by 49 · see citing works

Iron metabolism in the eye: A review

Goralska, M., Ferrell, J., Harned, J., Lall, M. M., Nagar, S., Fleisher, L. N., & McGahan, M. C. (2008) · Experimental Eye Research · doi:10.1016/j.exer.2008.10.026 · Cited by 47 · see citing works

Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms: Figure 1

Cremonesi, L., Cozzi, A., Girelli, D., Ferrari, F., Fermo, I., Foglieni, B., Levi, S., Bozzini, C., Camparini, M., Ferrari, M., et al. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.011718 · Cited by 42 · see citing works

Pathogenesis of Hyperferritinemia Cataract Syndrome

Roetto, A., Bosio, S., Gramaglia, E., Barilaro, M. R., Zecchina, G., & Camaschella, C. (2002) · Blood Cells Molecules and Diseases · doi:10.1006/bcmd.2002.0590 · Cited by 41 · see citing works

A new mutation (G51C) in the iron‐responsive element (IRE) of l ‐ferritin associated with hyperferritinaemia–cataract syndrome decreases the binding affinity of the mutated IRE for iron‐regulatory proteins

Camaschella, Zecchina, Lockitch, Roetto, A., Campanella, A., Arosio, P., & Levi, S. (2000) · British Journal of Haematology · doi:10.1046/j.1365-2141.2000.01920.x · Cited by 41 · see citing works

Post-transcriptional control via iron-responsive elements: the impact of aberrations in hereditary disease

Mikulits, W., Schranzhofer, M., Beug, H., & Müllner, E. W. (1999) · Mutation Research/Reviews in Mutation Research · doi:10.1016/s1383-5742(99)00085-x · Cited by 41 · see citing works

Oxidative stress defense and repair systems of the ocular lens

Brennan, L. (2011) · Frontiers in Bioscience-Elite · doi:10.2741/365 · Cited by 41 · see citing works

Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism

Ferrari, F., Foglieni, B., Arosio, P., Camaschella, C., Daraio, F., Levi, S., García‐Erce, J. A., Beaumont, C., Cazzola, M., Ferrari, M., et al. (2006) · Human Mutation · doi:10.1002/humu.20294 · Cited by 39 · see citing works

Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin.

Vanita, V., Hejtmancik, J. F., Hennies, H. C., Guleria, K., Nürnberg, P., Singh, D., Sperling, K., & Singh, J. R. (2006) · PubMed · Cited by 34 · see citing works

Double-Gradient Denaturing Gradient Gel Electrophoresis Assay for Identification of L-Ferritin Iron-responsive Element Mutations Responsible for Hereditary Hyperferritinemia-Cataract Syndrome: Identification of the New Mutation C14G

Cremonesi, L., Fumagalli, A., Soriani, N., Ferrari, M., Levi, S., Belloli, S., Ruggeri, G., & Arosio, P. (2001) · Clinical Chemistry · doi:10.1093/clinchem/47.3.491 · Cited by 34 · see citing works

Scanning mutations of the 5′UTR regulatory sequence of l ‐ferritin by denaturing high‐performance liquid chromatography: identification of new mutations

Cremonesi, L., Paroni, R. C., Foglieni, B., Galbiati, S., Fermo, I., Soriani, N., Belloli, S., Ruggeri, G., Biasiotto, G., Cazzola, M., et al. (2003) · British Journal of Haematology · doi:10.1046/j.1365-2141.2003.04253.x · Cited by 33 · see citing works

Molecular Analysis of Hereditary Hyperferritinemia-Cataract Syndrome in a Large Basque Family

de Nanclares, G. P., Castaño, L. A., Martul, P., Rica, I., Vela, A., Sanjurjo, P., Aldámiz-Echevarría, K., Martínez, R., & Mj, S. (2001) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.2001.14.3.295 · Cited by 33 · see citing works

Overexpression of H- and L-ferritin subunits in lens epithelial cells: Fe metabolism and cellular response to UVB irradiation.

Goralska, M., Holley, B. L., & McGahan, M. C. (2001) · PubMed · Cited by 32 · see citing works

Identification of two novel mutations in the 5'-untranslated region of H-ferritin using denaturing high performance liquid chromatography scanning.

Cremonesi, L., Foglieni, B., Fermo, I., Cozzi, A., Paroni, R. C., Ruggeri, G., Belloli, S., Levi, S., Fargion, S. R., Ferrari, M., et al. (2003) · PubMed · Cited by 31 · see citing works

Hereditary hyperferritinaemia/ cataract syndrome

Cazzola, M. (2002) · Best Practice & Research Clinical Haematology · doi:10.1016/s1521-6926(02)90204-5 · Cited by 30 · see citing works

Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome

Lachlan, K. L., Temple, I. K., & Mumford, A. D. (2004) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201252 · Cited by 27 · see citing works

A novel deletion in theFTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site

Burdon, K. P., Sharma, S., Chen, C. S., Dimasi, D. P., Mackey, D. A., & Craig, J. E. (2007) · Human Mutation · doi:10.1002/humu.9501 · Cited by 26 · see citing works

Onset of cataract in early infancy associated with a 32G→C transition in the iron responsive element of L-ferritin

Campagnoli, M. F., Pimazzoni, R., Bosio, S., Zecchina, G., Gobbi, M. D., Bosso, P., Oldani, B., & Ramenghi, U. (2002) · European Journal of Pediatrics · doi:10.1007/s00431-002-1019-4 · Cited by 26 · see citing works

A novel deletion of the l ‐ferritin iron‐responsive element responsible for severe hereditary hyperferritinaemia–cataract syndrome

Cazzola, M., Foglieni, B., Bergamaschi, G., Levi, S., Lazzarino, M., & Arosio, P. (2002) · British Journal of Haematology · doi:10.1046/j.0007-1048.2001.03310.x · Cited by 26 · see citing works

Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia–cataract syndrome reveals novel and de novo mutations

McLeod, J. L., Craig, J. E., Gumley, S. G., Roberts, S., & Kirkland, M. A. (2002) · British Journal of Haematology · doi:10.1046/j.1365-2141.2002.03690.x · Cited by 25 · see citing works

Hereditary hyperferritinemia cataract syndrome in three unrelated families of western Greek origin caused by the C39 > G mutation of L-ferritin IRE

Papanikolaou, G. V., Chandrinou, H., Bouzas, E. A., Contopoulos‐Ioannidis, D. G., Kalotychou, V., Prentzas, K., Λιλάκος, Κ., Asproudis, I., Palaiologou, D., Premetis, E., et al. (2006) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2005.10.003 · Cited by 21 · see citing works

Hereditary hyperferritinaemia???cataract syndrome: a challenging diagnosis for the hepatogastroenterologist

Ferrante, M., Geubel, A., Fevery, J., Marogy, G., Horsmans, Y., & Nevens, F. (2005) · European Journal of Gastroenterology & Hepatology · doi:10.1097/00042737-200511000-00016 · Cited by 20 · see citing works

Hereditary hyperferritinaemia cataract syndrome

Bowes, O., Baxter, K., Elsey, T. S., Snead, M. P., & Cox, T. M. (2014) · The Lancet · doi:10.1016/s0140-6736(14)60484-0 · Cited by 19 · see citing works

Pathogenic mechanism and modeling of neuroferritinopathy

Cozzi, A., Santambrogio, P., Ripamonti, M., Rovida, E., & Levi, S. (2021) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-020-03747-w · Cited by 18 · see citing works

Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases

Nos, F. C., Hernández, G., Ferrer-Cortés, X., Hernández‐Rodríguez, I., Navarro-Almenzar, B., Fuster, J. L., Cortés, M. B., Pérez-Montero, S., Tornador, C., & Sánchez, M. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22115451 · Cited by 17 · see citing works

Altered Ferritin Subunit Composition: Change in Iron Metabolism in Lens Epithelial Cells and Downstream Effects on Glutathione Levels and VEGF Secretion

Harned, J., Ferrell, J., Lall, M. M., Fleisher, L. N., Nagar, S., Goralska, M., & McGahan, M. C. (2010) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.09-3861 · Cited by 16 · see citing works

Quantitative distribution of Zn, Fe and Cu in the human lens and study of the Zn–metallothionein redox system in cultured lens epithelial cells by elemental MS

González‐Iglesias, H., Petrash, C., Rodríguez-Menéndez, S., García, M., Álvarez, L., Fernández-Vega-Cueto, L., Fernández, B., Pereiro, R., Sanz‐Medel, A., & Coca‐Prados, M. (2017) · Journal of Analytical Atomic Spectrometry · doi:10.1039/c6ja00431h · Cited by 16 · see citing works

The chemical mechanism of oxidative stress due to the non-transferrin-bound iron (NTBI)

Nishida, Y. (2012) · Advances in Bioscience and Biotechnology · doi:10.4236/abb.2012.327131 · Cited by 15 · see citing works

High Level of Ferritin Light Chain mRNA in Lens

Cheng, Q., González, P., & Zigler, J. S. (2000) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.2000.2425 · Cited by 15 · see citing works

Hereditary hyperferritinemia-cataract syndrome: Study of a new family in Spain

Ladero, J. M., Balas, A., García‐Sánchez, F., Vicario, J. L., & Diaz-Rubio, M. E. (2004) · Revista Española de Enfermedades Digestivas · doi:10.4321/s1130-01082004000700008 · Cited by 14 · see citing works

Non-HFE hemochromatosis

Herruzo, J. A. S., & Muñoz, P. S. (2005) · Revista Española de Enfermedades Digestivas · doi:10.4321/s1130-01082005000400007 · Cited by 13 · see citing works

Recent Advance in Molecular Iron Metabolism: Translational Disorders of Ferritin

Kato, J., & Niitsu, Y. (2002) · International Journal of Hematology · doi:10.1007/bf02982789 · Cited by 13 · see citing works

A Point Mutation in the Iron-Responsive Element of the L-Ferritin in a Family with Hereditary Hyperferritinemia Cataract Syndrome

Wong, K. K. Y., Barbin, Y. P., Chakrabarti, S., & Adams, P. C. (2005) · Canadian Journal of Gastroenterology · doi:10.1155/2005/796963 · Cited by 13 · see citing works

Iron Metabolism and Disease

Sebastiani, G., & Pantopoulos, K. (2010) · CRC Press eBooks · doi:10.1201/9781420059984-c13 · Cited by 12 · see citing works

Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families

Shekunov, J., de Groen, P. C., Lindor, N. M., Klee, G. G., Aleff, R. A., Wieben, E. D., & Mohney, B. G. (2011) · Journal of American Association for Pediatric Ophthalmology and Strabismus · doi:10.1016/j.jaapos.2011.03.020 · Cited by 11 · see citing works

Two Dutch families with hereditary hyperferritinaemia-cataract syndrome and heterozygosity for an HFE-related haemochromatosis gene mutation.

Şimşek, S., Nanayakkara, P. W. B., Keek, J. M. F., Faber, L. M., Bruin, K. F., & Pals, G. (2003) · PubMed · Cited by 10 · see citing works

Hyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian family

Cosentino, I., Zeri, F., Swann, P., Majore, S., Radio, F. C., Palumbo, P., Grammatico, P., & Petitti, V. (2016) · Ophthalmic Genetics · doi:10.3109/13816810.2015.1059460 · Cited by 9 · see citing works

Associations of exposure to multiple metals with the risk of age-related cataract in Anhui, China: a case–control study

Li, Y., Wang, Q., Liu, R., Li, G.-A., He, J., Huang, F., & Zhou, Y. (2022) · Environmental Science and Pollution Research · doi:10.1007/s11356-022-22494-y · Cited by 8 · see citing works

Aqueous Humor Ferritin in Hereditary Hyperferritinemia Cataract Syndrome

Lenzhofer, M., Schroedl, F., Trost, A., Kaser-Eichberger, A., Wiedemann, H., Strohmaier, C., Hohensinn, M., Straßer, M., Muckenthaler, M. U., Grabner, G., et al. (2015) · Optometry and Vision Science · doi:10.1097/opx.0000000000000544 · Cited by 8 · see citing works

Crystallization and preliminary X-ray diffraction data for the aconitase form of human iron-regulatory protein 1

Dupuy, J., Darnault, C., Brazzolotto, X., Kühn, L. C., Moulis, J., Volbeda, A., & Fontecilla-Camps, J. C. (2005) · Acta Crystallographica Section F Structural Biology and Crystallization Communications · doi:10.1107/s1744309105010444 · Cited by 8 · see citing works

Hereditary hyperferritinaemia cataract syndrome: does it exist in Switzerland?

Rosochova, J., Kapetanios, A. D., Pournaras, C. J., Vadas, L., Samii, K., & Beris, P. (2000) · PubMed · Cited by 8 · see citing works

Hereditary hyperferritinemia-cataract syndrome (HHCS) presenting with iron deficiency anemia associated with a new mutation in the iron responsive element of the L ferritin gene in a swiss family

Rüfer, A., Howell, J. P., Lange, A. P., Yamamoto, R., Heuscher, J., Gregor, M., & Wuillemin, W. A. (2011) · European Journal Of Haematology · doi:10.1111/j.1600-0609.2011.01607.x · Cited by 7 · see citing works

A child with hyperferritinemia: Case report

Serra, M., Longo, F., Roetto, A., Sandri, A., & Piga, A. G. (2011) · The Italian Journal of Pediatrics/Italian journal of pediatrics · doi:10.1186/1824-7288-37-20 · Cited by 7 · see citing works

An ELISA for the H-Subunit of Human Ferritin which Employs a Combination of Rabbit Poly- and Mice Monoclonal Antibodies and an Enzyme Labeled Anti-Mouse-IgG

Vaisman, B. L., Santambrogio, P., Arosio, P., Fibach, E., & Konijn, A. M. (1999) · Clinical Chemistry and Laboratory Medicine (CCLM) · doi:10.1515/cclm.1999.022 · Cited by 7 · see citing works

Hiperferritinemia aislada en un lactante sano: síndrome hereditario de hiperferritinemia y cataratas

Bravo, A. C., Planas, M. S., Alarabe, A. A., Sáenz, A. D., Egea, M. J. A., & Pérez, A. B. (2000) · Anales de Pediatría · doi:10.1016/s1695-4033(00)77336-x · Cited by 7 · see citing works

Oxidative Stress in Lens

Yoon, S. Y., Kim, E., & Shin, Y. J. (2014) · Oxidative stress in applied basic research and clinical practice · doi:10.1007/978-1-4939-1935-2_11 · Cited by 6 · see citing works

Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications

Jedličková, J., Honzík, T., Jadvidžáková, E., Zdráhalová, K., Pourová, R. K., Korbasova, M., Lišková, P., & Ďuďáková, Ľ. (2020) · Journal of American Association for Pediatric Ophthalmology and Strabismus · doi:10.1016/j.jaapos.2020.07.014 · Cited by 6 · see citing works

Genotypic–Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families

Zin, O. A., Neves, L. M., Cunha, D. P., Motta, F. L., Agonigi, B. N. S., Horovitz, D. D. G., Almeida, D. C., Malacarne, J., Rodrigues, A. P. D. S., Carvalho, A. B., et al. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms241511876 · Cited by 5 · see citing works

Ascorbate and Tumor Cell Iron Metabolism: The Evolving Story and Its Link to Pathology

Bae, D.-H., Azad, M. G., Kalinowski, D. S., Lane, D. J. R., Jansson, P. J., & Richardson, D. R. (2019) · Antioxidants and Redox Signaling · doi:10.1089/ars.2019.7903 · Cited by 6 · see citing works

Hereditary hyperferritinemia-cataract syndrome

INSERM (2020) · Definitions · doi:10.32388/y6yt41 · Cited by 5 · see citing works

Iron Metabolism and Related Disorders

Ginzburg, Y. Z., & Finberg, K. E. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-812535-9.00012-1 · Cited by 4 · see citing works

Granulocyte function in patients with L‐ferritin iron‐responsive element (IRE) 39C→T‐positive hereditary hyperferritinaemia–cataract syndrome

Fritsche‐Polanz, R., Wallner, M., Cohen, G., Eberle, C., Sunder–Plassmann, G., & Födinger, M. (2004) · European Journal of Clinical Investigation · doi:10.1111/j.1365-2362.2004.01408.x · Cited by 4 · see citing works

Iron-Overload, Oxidative DNA Damage and Differential Transcript Expression of Iron Homeostasis Genes in Human Cortical Cataracts

Rajkumar, S., Vidya, N. G., Ankit, G. D., & Vasavada, A. R. (2018) · International Journal of Ophthalmology and Clinical Research · doi:10.23937/2378-346x/1410091 · Cited by 4 · see citing works

Iron Regulatory Proteins

Pantopoulos, K. (2002) · Wiley Encyclopedia of Molecular Medicine · doi:10.1002/0471203076.emm0091.pub2 · Cited by 4 · see citing works

Cataract secondary to iatrogenic iron overload in a severely anemic patient

Erol, M. A., Özalp, O., & Atalay, E. (2021) · Indian Journal of Ophthalmology - Case Reports · doi:10.4103/ijo.ijo_2872_20 · Cited by 3 · see citing works

Dual diagnoses of hereditary hyperferritinaemia-cataract syndrome and hereditary haemochromatosis

Hughes, M., & Vosylius, P. (2006) · Clinical & Laboratory Haematology · doi:10.1111/j.1365-2257.2006.00824.x · Cited by 2 · see citing works

A case of iron deficiency anemia with extremely hyperferritinemia responds well to oral iron: the first identified hereditary hyperferritinemia cataract syndrome in China

Xu, M., Zhao, X., Sun, F., & Zhu, R. (2020) · Annals of Hematology · doi:10.1007/s00277-020-04085-4 · Cited by 1 · see citing works

Hyperferritinemi-katarakt-syndrom

Benneche, A., Sandnes, M., Bakke, Å., & Reikvam, H. (2020) · Tidsskrift for Den norske legeforening · doi:10.4045/tidsskr.20.0255 · Cited by 1 · see citing works

Genetic Disorders of Trace Element Metabolism

Anderson, G. J., & McLaren, G. D. (2000) · Humana Press eBooks · doi:10.1007/978-1-59259-040-7_12 · Cited by 1 · see citing works

Iron Storage Proteins

Crichton, R. R. (2016) · doi:10.1002/9781118925645.ch9 · Cited by 1 · see citing works

Miscellaneous Iron-Related Disorders

Beaumont, C. (2011) · Humana Press eBooks · doi:10.1007/978-1-60327-485-2_21

À bien y regarder, cette hyperferritinémie est surprenante

Capet, C., Geffroy, C. E., Bentot, C., Iasci, C., Doucet, J., Bercoff, E., & Chassagne, P. (2000) · La Revue de Médecine Interne · doi:10.1016/s0248-8663(00)89290-5

Abnormal Iron Accumulation in Brain and New Iron Chelator for Labile Iron Removal Therapy

Nishida, Y. (2015) · International Journal of Chemistry · doi:10.5539/ijc.v7n1p104

NOTAS CLÍNICAS Síndrome hereditario de hiperferritinemia y catarata Hereditary syndrome of hyperferritinemia and cataract

Andonegui, J., Prat, M., & Vargas, M. (2007)

Effect of divalent cations and solubilizers in apoferritin and gamma D-crystallin solutions: nucleation, crystallization and light scattering studies

Nwanosike, Q. M. (2009) · SMARTech Repository (Georgia Institute of Technology)

Hereditary hyperferritinemia-cataract syndrome: IRE mutations of ferritin light-chain gene (FTL)

Barton, J. C., Edwards, C. Q., Phatak, P. D., Britton, R. S., & Bacon, B. R. (2010) · Cambridge University Press eBooks · doi:10.1017/cbo9780511777035.019

Ferritin L-subunit Gene Mutation and Hereditary Hyperferritinaemia Cataract Syndrome: A Case Report and Literature ReviewPreprint

Yang, Y., Lin, T., & Chen, X. (2021) · Research Square · doi:10.21203/rs.3.rs-290096/v1

Apport dans le métabolisme du fer du modèle murin macrophage autophagie déficient & relations fer - inflammation

Taleb, M. (2021) · theses.fr (ABES) · doi:10.70675/3fae5636z8e09z46ecza8d8zf84434d2bf14

Identification of a Novel Mutation in the L Ferritin Iron-Responsive Element Causing Hereditary Hyperferritinemia-Cataract Syndrome

Messa, E., Pellegrino, R. M., Palmieri, A., Carturan, S., Cilloni, D., Saglio, G. N., & Roetto, A. (2009) · Acta Haematologica · doi:10.1159/000253031 · Cited by 4 · see citing works

A case report of spontaneous mutation (C33 > U) in the iron-responsive element of l-ferritin causing hyperferritinemia-cataract syndrome

Cao, W., McMahon, M. E., Wang, B., O’Connor, R., & Clarkson, M. (2009) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2009.09.003 · Cited by 17 · see citing works

Pathogenesis of Hyperferritinemia Cataract Syndrome

Roetto, A., Bosio, S., Gramaglia, E., Barilaro, M. R., Zecchina, G., & Camaschella, C. (2002) · Blood Cells Molecules and Diseases · doi:10.1006/bcmd.2002.0590 · Cited by 41 · see citing works

Hereditary hyperferritinemia-cataract syndrome: IRE mutations of ferritin light-chain gene (FTL)

Barton, J. C., Edwards, C. Q., Phatak, P. D., Britton, R. S., & Bacon, B. R. (2010) · Cambridge University Press eBooks · doi:10.1017/cbo9780511777035.019

Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases

Nos, F. C., Hernández, G., Ferrer-Cortés, X., Hernández‐Rodríguez, I., Navarro-Almenzar, B., Fuster, J. L., Cortés, M. B., Pérez-Montero, S., Tornador, C., & Sánchez, M. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22115451 · Cited by 17 · see citing works