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Items: 1 to 20 of 80

1.

Abnormal iron homeostasis and neurodegeneration.

Muhoberac BB, Vidal R.

Front Aging Neurosci. 2013 Jul 30;5:32. doi: 10.3389/fnagi.2013.00032. eCollection 2013.

2.

Unraveling of the E-helices and disruption of 4-fold pores are associated with iron mishandling in a mutant ferritin causing neurodegeneration.

Baraibar MA, Muhoberac BB, Garringer HJ, Hurley TD, Vidal R.

J Biol Chem. 2010 Jan 15;285(3):1950-6. doi: 10.1074/jbc.M109.042986. Epub 2009 Nov 18.

3.

A mutant light-chain ferritin that causes neurodegeneration has enhanced propensity toward oxidative damage.

Baraibar MA, Barbeito AG, Muhoberac BB, Vidal R.

Free Radic Biol Med. 2012 May 1;52(9):1692-7. doi: 10.1016/j.freeradbiomed.2012.02.015. Epub 2012 Feb 17.

4.

Expression of a mutant form of the ferritin light chain gene induces neurodegeneration and iron overload in transgenic mice.

Vidal R, Miravalle L, Gao X, Barbeito AG, Baraibar MA, Hekmatyar SK, Widel M, Bansal N, Delisle MB, Ghetti B.

J Neurosci. 2008 Jan 2;28(1):60-7. doi: 10.1523/JNEUROSCI.3962-07.2008.

5.

Iron loading-induced aggregation and reduction of iron incorporation in heteropolymeric ferritin containing a mutant light chain that causes neurodegeneration.

Muhoberac BB, Baraibar MA, Vidal R.

Biochim Biophys Acta. 2011 Apr;1812(4):544-8. doi: 10.1016/j.bbadis.2010.10.010. Epub 2010 Oct 26.

6.

Iron-mediated aggregation and a localized structural change characterize ferritin from a mutant light chain polypeptide that causes neurodegeneration.

Baraibar MA, Barbeito AG, Muhoberac BB, Vidal R.

J Biol Chem. 2008 Nov 14;283(46):31679-89. doi: 10.1074/jbc.M805532200. Epub 2008 Aug 28.

7.

Abnormal iron metabolism and oxidative stress in mice expressing a mutant form of the ferritin light polypeptide gene.

Barbeito AG, Garringer HJ, Baraibar MA, Gao X, Arredondo M, Núñez MT, Smith MA, Ghetti B, Vidal R.

J Neurochem. 2009 May;109(4):1067-78. doi: 10.1111/j.1471-4159.2009.06028.x. Epub 2009 Mar 30.

8.

A novel neuroferritinopathy mouse model (FTL 498InsTC) shows progressive brain iron dysregulation, morphological signs of early neurodegeneration and motor coordination deficits.

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.

Neurobiol Dis. 2015 Sep;81:119-33. doi: 10.1016/j.nbd.2014.10.023. Epub 2014 Nov 4.

9.

Abnormal iron metabolism in fibroblasts from a patient with the neurodegenerative disease hereditary ferritinopathy.

Barbeito AG, Levade T, Delisle MB, Ghetti B, Vidal R.

Mol Neurodegener. 2010 Nov 10;5:50. doi: 10.1186/1750-1326-5-50.

10.

Effect of Systemic Iron Overload and a Chelation Therapy in a Mouse Model of the Neurodegenerative Disease Hereditary Ferritinopathy.

Garringer HJ, Irimia JM, Li W, Goodwin CB, Richine B, Acton A, Chan RJ, Peacock M, Muhoberac BB, Ghetti B, Vidal R.

PLoS One. 2016 Aug 30;11(8):e0161341. doi: 10.1371/journal.pone.0161341. eCollection 2016.

11.

Accumulation of oxidative DNA damage in brain mitochondria in mouse model of hereditary ferritinopathy.

Deng X, Vidal R, Englander EW.

Neurosci Lett. 2010 Jul 19;479(1):44-8. doi: 10.1016/j.neulet.2010.05.025. Epub 2010 May 15.

12.

Rare causes of hereditary iron overload.

Ponka P.

Semin Hematol. 2002 Oct;39(4):249-62. Review.

PMID:
12382200
13.

Hereditary causes of disturbed iron homeostasis in the central nervous system.

Ponka P.

Ann N Y Acad Sci. 2004 Mar;1012:267-81. Review.

PMID:
15105272
14.

A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation.

Nishida K, Garringer HJ, Futamura N, Funakawa I, Jinnai K, Vidal R, Takao M.

J Neurol Sci. 2014 Jul 15;342(1-2):173-7. doi: 10.1016/j.jns.2014.03.060. Epub 2014 Apr 12.

15.

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.

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.

Nat Genet. 2001 Aug;28(4):350-4.

PMID:
11438811
16.

[Clinical features of neuroferritinopathy].

Ohta E, Nagasaka T, Shindo K, Toma S, Nagasaka K, Miwa M, Takiyama Y, Shiozawa Z.

Rinsho Shinkeigaku. 2009 May;49(5):254-61. Review. Japanese.

PMID:
19594102
17.

Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene.

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.

J Neuropathol Exp Neurol. 2004 Apr;63(4):363-80.

PMID:
15099026
18.

Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism.

Levi S, Rovida E.

Neurobiol Dis. 2015 Sep;81:134-43. doi: 10.1016/j.nbd.2015.02.007. Epub 2015 Mar 12. Review.

19.

Neuroferritinopathy: update on clinical features and pathogenesis.

McNeill A, Chinnery PF.

Curr Drug Targets. 2012 Aug;13(9):1200-3.

PMID:
22515742
20.

[Clinical feature of neuroferritinopathy].

Ohta E.

Rinsho Shinkeigaku. 2012;52(11):951-4. Japanese.

PMID:
23196480

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