Mutant ferritin L-chains that cause neurodegeneration act in a dominant-negative manner to reduce ferritin iron incorporation (Q24299541)

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18 January 2020

title

Mutant ferritin L-chains that cause neurodegeneration act in a dominant-negative manner to reduce ferritin iron incorporation (English)

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18 January 2020

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GOA release 2020-03-11

author

Dario Finazzi

8

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18 January 2020

Sonia Levi

10

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18 January 2020

Paolo Arosio

11

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18 January 2020

author name string

Sara Luscieti

1

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18 January 2020

Paolo Santambrogio

2

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18 January 2020

Béatrice Langlois d'Estaintot

3

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18 January 2020

Thierry Granier

4

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18 January 2020

Anna Cozzi

5

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18 January 2020

Maura Poli

6

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18 January 2020

Bernard Gallois

7

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18 January 2020

Angela Cattaneo

9

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18 January 2020

language of work or name

English

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publication date

16 February 2010

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Journal of Biological Chemistry

18 January 2020

published in

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18 January 2020

volume

285

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18 January 2020

page(s)

11948-11957

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18 January 2020

issue

16

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

18 January 2020

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

19 March 2017

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Clinical and genetic delineation of neurodegeneration with brain iron accumulation

19 March 2017

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19 March 2017

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Oxidative stress and cell death in cells expressing L-ferritin variants causing neuroferritinopathy

19 March 2017

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

27 September 2017

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

27 September 2017

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

27 September 2017

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

27 September 2017

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Ferritin associates with marginal band microtubules

27 September 2017

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27 September 2017

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

27 September 2017

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30 May 2018

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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.

30 May 2018

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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

21 January 2018

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A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: description of clinical features and implications for genotype-phenotype correlations.

21 January 2018

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Neuroferritinopathy in a Japanese family with a duplication in the ferritin light chain gene

21 January 2018

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Overexpression of wild type and mutated human ferritin H-chain in HeLa cells: in vivo role of ferritin ferroxidase activity.

21 January 2018

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Recombinant ferritin: modulation of subunit stoichiometry in bacterial expression systems.

21 January 2018

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Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation.

21 January 2018

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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

21 January 2018

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21 January 2018

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Conditional deletion of ferritin H in mice induces loss of iron storage and liver damage

21 January 2018

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12 December 2020

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

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12 December 2020

Construction of a ferroxidase center in human ferritin L-chain

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12 December 2020

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

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12 December 2020

Loop mutations can cause a substantial conformational change in the carboxy terminus of the ferritin protein

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12 December 2020

Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome

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12 December 2020

Functional and Immunological Analysis of Recombinant Mouse H- and L-Ferritins from Escherichia coli

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12 December 2020

Recombinant human hepcidin expressed in Escherichia coli isolates as an iron containing protein

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12 December 2020

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

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12 December 2020

Identifiers

DOI

10.1074/JBC.M109.096404

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20159981%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20159981%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference