| 1 | 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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| 2 | 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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| 3 | 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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| 4 | 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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| 5 | 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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| 6 | NBIA3
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| Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.
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| Maciel P, Cruz VT, Constante M, Iniesta I, Costa MC, Gallati S, Sousa N, Sequeiros J, Coutinho P, Santos MM.
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| Neurology 65(4):603-5. 2005
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| 7 | 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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| 8 | NBIA3
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| Neuroferritinopathy in a French family with late onset dominant dystonia.
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| Chinnery PF, Curtis AR, Fey C, Coulthard A, Crompton D, Curtis A, Lombes A, Burn J.
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| J Med Genet 40(5):e69. No abstract available. 2003
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