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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.


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.


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.


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.


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.


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, Arosio P.

J Biol Chem. 2010 Apr 16;285(16):11948-57. doi: 10.1074/jbc.M109.096404. Epub 2010 Feb 16.


Characterization of the l-ferritin variant 460InsA responsible of a hereditary ferritinopathy disorder.

Cozzi A, Santambrogio P, Corsi B, Campanella A, Arosio P, Levi S.

Neurobiol Dis. 2006 Sep;23(3):644-52. Epub 2006 Jul 5.


Mutations of ferritin H chain C-terminus produced by nucleotide insertions have altered stability and functional properties.

Ingrassia R, Gerardi G, Biasiotto G, Arosio P.

J Biochem. 2006 May;139(5):881-5.


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.


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.


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.


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.


Peptides selected for the protein nanocage pores change the rate of iron recovery from the ferritin mineral.

Liu XS, Patterson LD, Miller MJ, Theil EC.

J Biol Chem. 2007 Nov 2;282(44):31821-5. Epub 2007 Sep 4.


The role of the L-chain in ferritin iron incorporation. Studies of homo and heteropolymers.

Levi S, Santambrogio P, Cozzi A, Rovida E, Corsi B, Tamborini E, Spada S, Albertini A, Arosio P.

J Mol Biol. 1994 May 20;238(5):649-54.


Thermal stability of human ferritin: concentration dependence and enhanced stability of an N-terminal fusion mutant.

Kim SW, Kim YH, Lee J.

Biochem Biophys Res Commun. 2001 Nov 23;289(1):125-9.


Systemic and cerebral iron homeostasis in ferritin knock-out mice.

Li W, Garringer HJ, Goodwin CB, Richine B, Acton A, VanDuyn N, Muhoberac BB, Irimia-Dominguez J, Chan RJ, Peacock M, Nass R, Ghetti B, Vidal R.

PLoS One. 2015 Jan 28;10(1):e0117435. doi: 10.1371/journal.pone.0117435. eCollection 2015.


Analysis of ferritins in lymphoblastoid cell lines and in the lens of subjects with hereditary hyperferritinemia-cataract syndrome.

Levi S, Girelli D, Perrone F, Pasti M, Beaumont C, Corrocher R, Albertini A, Arosio P.

Blood. 1998 Jun 1;91(11):4180-7.


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.


Neuroferritinopathy: a window on the role of iron in neurodegeneration.

Crompton DE, Chinnery PF, Fey C, Curtis AR, Morris CM, Kierstan J, Burt A, Young F, Coulthard A, Curtis A, Ince PG, Bates D, Jackson MJ, Burn J.

Blood Cells Mol Dis. 2002 Nov-Dec;29(3):522-31.

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