(Q24299541)

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

18 January 2020

title

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

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

0 references

1 reference

GOA release 2020-03-11

1 reference

8

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

Sonia Levi

10

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

Paolo Arosio

11

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

author name string

Sara Luscieti

1

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

Paolo Santambrogio

2

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

Béatrice Langlois d'Estaintot

3

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

Thierry Granier

4

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

Anna Cozzi

5

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

Maura Poli

6

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

Bernard Gallois

7

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

Angela Cattaneo

9

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

language of work or name

English

0 references

publication date

16 February 2010

1 reference

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

Journal of Biological Chemistry

18 January 2020

published in

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

volume

285

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

issue

16

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

page(s)

11948-11957

1 reference

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

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

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

MolProbity: all-atom contacts and structure validation for proteins and nucleic acids

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

Structure of human ferritin L chain

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

Scaling and assessment of data quality

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

The integration of macromolecular diffraction data

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

Coot: model-building tools for molecular graphics

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

Refinement of macromolecular structures by the maximum-likelihood method

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

The CCP4 suite: programs for protein crystallography

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

Mass Spectrometric Sequencing of Proteins from Silver-Stained Polyacrylamide Gels

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

Clinical and genetic delineation of neurodegeneration with brain iron accumulation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

The ferritins: molecular properties, iron storage function and cellular regulation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

Ferritin associates with marginal band microtubules

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

Hereditary ferritinopathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

Isolation of point mutations that affect the folding of the H chain of human ferritin in E.coli

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

Evidence that a salt bridge in the light chain contributes to the physical stability difference between heavy and light human ferritins.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

Effects of modifications near the 2-, 3- and 4-fold symmetry axes on human ferritin renaturation.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

Isoforms of ferritin have a specific cellular distribution in the brain.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

Mutational analysis of the channel and loop sequences of human ferritin H-chain

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852932

Early embryonic lethality of H ferritin gene deletion in mice.

30 May 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.096404

Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.096404

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.096404

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.096404

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.096404

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.096404

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.096404

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.096404

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.096404

Accurate bond and angle parameters for X-ray protein structure refinement

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.096404

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

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Construction of a ferroxidase center in human ferritin L-chain

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

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