| 1 | CAHF, FTL
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| FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family.
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| Ferro E, Capra AP, Zirilli G, Meduri A, Urso M, Briuglia S, La Rosa MA.
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| Pediatr Dev Pathol ediatr Dev Pathol. 2018 Jan 1:1093526618755200. doi: 10.1177/1093526618755200. [Epub ahead of print]
2018
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| 2 | FTL, TFRC
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| Transferrin receptor-1 and ferritin heavy and light chains in astrocytic brain tumors: Expression and prognostic value.
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| Rosager AM, Sørensen MD, Dahlrot RH, Hansen S, Schonberg DL, Rich JN, Lathia JD, Kristensen BW.
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| PLoS One 12(8):e0182954. doi: 10.1371/journal.pone.0182954. eCollection 2017.
2017
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| 3 | FTL
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| Expression of Ferritin Light Chain (FTL) Is Elevated in Glioblastoma, and FTL Silencing Inhibits Glioblastoma Cell Proliferation via the GADD45/JNK Pathway.
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| Wu T, Li Y, Liu B, Zhang S, Wu L, Zhu X, Chen Q.
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| PLoS One 11(2):e0149361. doi: 10.1371/journal.pone.0149361. eCollection 2016.
2016
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| 4 | FTL, NBIA3
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| A novel neuroferritinopathy mouse model (FTL 498InsTC) shows progressive brain iron dysregulation, morphological signs of early neurodegeneration and motor coordination deficits.
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| Maccarinelli F, Pagani A, Cozzi A, Codazzi F, Di Giacomo G, Capoccia S, Rapino S, Finazzi D, Politi LS, Cirulli F, Giorgio M, Cremona O, Grohovaz F, Levi S.
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| Neurobiol Dis 81:119-33. doi: 10.1016/j.nbd.2014.10.023. Epub 2014 Nov 4.
2015
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| 5 | FTL, NBIA3
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| A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation.
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| Nishida K, Garringer HJ, Futamura N, Funakawa I, Jinnai K, Vidal R, Takao M.
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| J Neurol Sci 342(1-2):173-7. doi: 10.1016/j.jns.2014.03.060. Epub 2014 Apr 12.
2014
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| 6 | FTL, PSENEN
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| Ferritin light chain interacts with PEN-2 and affects γ-secretase activity.
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| Li X, Liu Y, Zheng Q, Yao G, Cheng P, Bu G, Xu H, Zhang YW.
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| Neurosci Lett 548:90-4. doi: 10.1016/j.neulet.2013.05.018. Epub 2013 May 15.
2013
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| 7 | CAHF, FTL
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| Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.
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| Luscieti S, Tolle G, Aranda J, Campos CB, Risse F, Morán É, Muckenthaler MU, Sánchez M.
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| Orphanet J Rare Dis 8:30. doi: 10.1186/1750-1172-8-30.
2013
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| 8 | FTL
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| A mutant light-chain ferritin that causes neurodegeneration has enhanced propensity toward oxidative damage.
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| Baraibar MA, Barbeito AG, Muhoberac BB, Vidal R.
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| Free Radic Biol Med 52(9):1692-7. doi: 10.1016/j.freeradbiomed.2012.02.015. Epub 2012 Feb 17.
2012
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| 9 | FTL
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| Iron loading-induced aggregation and reduction of iron incorporation in heteropolymeric ferritin containing a mutant light chain that causes neurodegeneration.
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| Muhoberac BB, Baraibar MA, Vidal R.
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| Biochim Biophys Acta 1812(4):544-8. doi: 10.1016/j.bbadis.2010.10.010. Epub 2010 Oct 26.
2011
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| 10 | FTH1, FTL, TF, TFRC
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| Binding and uptake of H-ferritin are mediated by human transferrin receptor-1.
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| Li L, Fang CJ, Ryan JC, Niemi EC, Lebrón JA, Björkman PJ, Arase H, Torti FM, Torti SV, Nakamura MC, Seaman WE.
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| Proc Natl Acad Sci U S A 107(8):3505-10. Epub 2010 Feb 4. 2010
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| 11 | FTL, NBIA3
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| Mutant ferritin L-chains that cause neurodegeneration act in a dominant-negative manner to reduce ferritin iron incorporation.
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| Luscieti S, Santambrogio P, Langlois d'Estaintot B, Granier T, Cozzi A, Poli M, Gallois B, Finazzi D, Cattaneo A, Levi S, Arosio P.
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| J Biol Chem 285(16):11948-57. doi: 10.1074/jbc.M109.096404. Epub 2010 Feb 16.
2010
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| 12 | CAHF, FTL
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| Bilateral cataract in a subject carrying a C to A transition in the L ferritin promoter region.
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| Faniello MC, Di Sanzo M, Quaresima B, Nisticò A, Fregola A, Grosso M, Cuda G, Costanzo F.
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| Clin Biochem 42(9):911-4. Epub 2009 Feb 27.PMID: 19254706 2009
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| 13 | FTH1, FTL
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| Ferritin L and H subunits are differentially regulated on a post-transcriptional level.
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| Sammarco MC, Ditch S, Banerjee A, Grabczyk E.
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| J Biol Chem 283(8):4578-87. Epub 2007 Dec 26.PMID: 18160403 2008
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| 14 | FTL, NBIA3
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| Expression of a mutant form of the ferritin light chain gene induces neurodegeneration and iron overload in transgenic mice.
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| Vidal R, Miravalle L, Gao X, Barbeito AG, Baraibar MA, Hekmatyar SK, Widel M, Bansal N, Delisle MB, Ghetti B.
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| J Neurosci 28(1):60-7. doi: 10.1523/JNEUROSCI.3962-07.2008.
2008
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| 15 | FTL, NBIA3
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| Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation.
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| Chinnery PF, Crompton DE, Birchall D, Jackson MJ, Coulthard A, Lombès A, Quinn N, Wills A, Fletcher N, Mottershead JP, Cooper P, Kellett M, Bates D, Burn J.
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| Brain 130(Pt 1):110-9. Epub 2006 Dec 2. 2007
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| 16 | FTH1, FTL
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| Ferritin: a novel mechanism for delivery of iron to the brain and other organs.
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| Fisher J, Devraj K, Ingram J, Slagle-Webb B, Madhankumar AB, Liu X, Klinger M, Simpson IA, Connor JR.
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| Am J Physiol Cell Physiol 293(2):C641-9. Epub 2007 Apr 25.PMID: 17459943 2007
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| 17 | FTL
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| Ferritin light chain down-modulation generates depigmentation in human metastatic melanoma cells by influencing tyrosinase maturation.
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| Maresca V, Flori E, Cardinali G, Briganti S, Lombardi D, Mileo AM, Paggi MG, Picardo M.
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| J Cell Physiol 206(3):843-8. 2006
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| 18 | FTL
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| Characterization of the l-ferritin variant 460InsA responsible of a hereditary ferritinopathy disorder.
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| Cozzi A, Santambrogio P, Corsi B, Campanella A, Arosio P, Levi S.
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| Neurobiol Dis 23(3):644-52. Epub 2006 Jul 5. 2006
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| 19 | FTL
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| Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene.
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| Mir P, Edwards MJ, Curtis AR, Bhatia KP, Quinn NP.
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| Mov Disord 20(2):243-5. 2005
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| 20 | FTL
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| Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights.
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| Mancuso M, Davidzon G, Kurlan RM, Tawil R, Bonilla E, Di Mauro S, Powers JM.
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| J Neuropathol Exp Neurol 64(4):280-94. 2005
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| 21 | FTL
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| Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene.
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| Vidal R, Ghetti B, Takao M, Brefel-Courbon C, Uro-Coste E, Glazier BS, Siani V, Benson MD, Calvas P, Miravalle L, Rascol O, Delisle MB.
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| J Neuropathol Exp Neurol 63(4):363-80. 2004
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| 22 | FTL, NBIA3
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| Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene.
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| Vidal R, Ghetti B, Takao M, Brefel-Courbon C, Uro-Coste E, Glazier BS, Siani V, Benson MD, Calvas P, Miravalle L, Rascol O, Delisle MB.
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| J Neuropathol Exp Neurol 63(4):363-80.
2004
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| 23 | FTL
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| Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.
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| Curtis AR, Fey C, Morris CM, Bindoff LA, Ince PG, Chinnery PF, Coulthard A, Jackson MJ, Jackson AP, McHale DP, Hay D, Barker WA, Markham AF, Bates D, Curtis A, Burn J.
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| Nat Genet 28(4):350-4. 2001
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| 24 | FTH1, FTL, HEPH, HFE, TF, TFRC
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| Identification of 96 single nucleotide polymorphisms in eight genes involved in iron metabolism: efficiency of bioinformatic extraction compared with a systematic sequencing approach.
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| Douabin-Gicquel V, Soriano N, Ferran H, Wojcik F, Palierne E, Tamim S, Jovelin T, McKie AT, Le Gall JY, David V, Mosser J.
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| Hum Genet 109(4):393-401. 2001
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| 25 | CAHF, FTL
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| 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.
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| Camaschella C, Zecchina G, Lockitch G, Roetto A, Campanella A, Arosio P, Levi S.
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| Br J Haematol 108(3):480-2. 2000
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| 26 | CAHF, FTL
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| Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia-cataract syndrome.
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| Cicilano M, et al.
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| Haematologica 84(6):489-92. 1999
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| 27 | CAHF, FTL
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| 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.
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| Martin ME, Fargion S, Brissot P, Pellat B, Beaumont C.
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| Blood 91(1):319-23. 1998
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| 28 | CAHF, FTL
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| Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA.
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| Cazzola M, Bergamaschi G, Tonon L, Arbustini E, Grasso M, Vercesi E, Barosi G, Bianchi PE, Cairo G, Arosio P.
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| Blood 90(2):814-21. 1997
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| 29 | CAHF, FTL
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| Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene.
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| Girelli D, Corrocher R, Bisceglia L, Olivieri O, Zelante L, Panozzo G, Gasparini P.
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| Blood 90(5):2084-8. 1997
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| 30 | FTL
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| Assignment of ferritin L gene (FTL) to human chromosome band 19q13.3 by in situ hybridization.
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| Gasparini P, Calvano S, Memeo E, Bisceglia L, Zelante L.
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| Ann Genet 40(4):227-8. 1997
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| 31 | CAHF, FTL
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| Molecular basis for the hereditary hyperferritinemia-cataract syndrome.
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| Girelli D, et al.
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| Blood 87 : 4912-4913. 1996
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| 32 | CAHF, FTL
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| A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome.
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| Aguilar-Martinez P, et al.
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| Blood 88 : 1895-1903. 1996
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| 33 | FTH1, FTL
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| The ferritins: molecular properties, iron storage function and cellular regulation.
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| Harrison PM, Arosio P.
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| Biochim Biophys Acta 1275(3):161-203. Review. 1996
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| 34 | CAHF, FTL
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| Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract.
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| Beaumont C, et al.
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| Nat Genet 11 : 444-446. 1995
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| 35 | CAHF, FTL
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| Molecular basis for the recently described hereditary hyper ferritinemia-cataract syndrome : a mutation in the iron-responsive element of ferritin L-subunit gene (the Verona Mutation).
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| Girelli D, et al.
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| Blood 86 : 4050-4053. 1995
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| 36 | FTH1, FTHL1, FTHL2, FTHL3, FTHL4, FTHP1, FTHL7, FTHL8, FTHL10, FTHL11, FTHL12, FTHL13, FTHL14, FTL, FTLL1, FTLL2
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| Human ferritin H and L sequences lie on ten different chromosomes.
|
| McGill JR, et al.
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| Hum Genet 76(1):66-72. 1987
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| 37 | FTL
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| Human ferritin genes: chromosomal assignments and polymorphisms.
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| Gatti RA, Shaked R, Mohandas TK, Salser W.
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| Am J Hum Genet 41(4):654-67.PMID: 2821803 1987
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| 38 | FTH1, FTHL1, FTHL2, FTHL3, FTHL4, FTHP1, FTHL7, FTHL8, FTL, FTLL1, FTLL2
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| Regulation of intracellular iron distribution in K562 human erythroleukemia cells.
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| Mattia E, et al.
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| J Biol Chem 261(10):4587-93. 1986
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| 39 | FTL
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| Cloning of the gene coding for human L apoferritin.
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| Santoro C, et al.
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| Nucleic Acids Res 14 : 2863-2876. 1986
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| 40 | FTH1, FTHL1, FTHL2, FTHL3, FTHL4, FTHP1, FTHL7, FTHL8, FTL, FTLL1, FTLL2
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| Structure and expression of ferritin genes in a human promyelocytic cell line that differenciates in vitro.
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| Chou CC, et al.
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| Mol Cell Biol 6(2):566-73. 1986
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| 41 | FTH1, FTHL1, FTHL2, FTHL3, FTHL4, FTHP1, FTHL7, FTHL8, FTL, FTLL1, FTLL2
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| Ferritin H and L chains are derived from different multigene families.
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| Jain SK, et al.
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| J Biol Chem 260(21):11762-8. 1985
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| 42 | FTL, FTLL1, FTLL2
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| Human ferritin light chain gene sequences mapped to several sorted chromosomes.
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| Lebo RV, et al.
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| Hum Genet 71 : 325-328. 1985
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| 43 | FTH1, FTHL1, FTHL2, FTHL3, FTHL4, FTHP1, FTHL7, FTHL8, FTL, FTLL1, FTLL2
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| Ferritin genes map to multiple sites in the human genome.
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| McGill JR, et al.
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| (HGM8) Cytogenet Cell Genet 40 : 696-697. 1985
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| 44 | FTL, FTH1
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| Assignment of human ferritin genes to chromosomes 11 and 19q13.3->19qter.
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| Worwood M, et al.
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| Hum Genet 69 : 371-374. 1985
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| 45 | FTL
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| Human ferritin is assigned to chromosome 19.
|
| Caskey JH, et al.
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| Proc Natl Acad Sci U S A 80 : 482-486. 1983
|