Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism (Q28085033)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25772441%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

author name string

Ermanna Rovida

series ordinal

2

2 references

Crossref

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6 June 2020

language of work or name

1 reference

September 2015

1 reference

1 September 2015

4 references

24 March 2019

25 April 2019

28 November 2019

17 December 2019

Neurobiology of Disease

6 references

24 March 2019

25 April 2019

28 November 2019

17 December 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25772441%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

volume

81

2 references

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6 June 2020

page(s)

134-143

1 reference

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Creative Commons Attribution 4.0 International

6 June 2020

copyright license

4 references

24 March 2019

25 April 2019

28 November 2019

on focus list of Wikimedia project

17 December 2019

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copyrighted

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cites work

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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.

7 April 2017

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29 September 2017

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Moving Fe2+ from ferritin ion channels to catalytic OH centers depends on conserved protein cage carboxylates

29 September 2017

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29 September 2017

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29 September 2017

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Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome

29 September 2017

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29 September 2017

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

29 September 2017

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Neuroferritinopathy: a new inborn error of iron metabolism

29 September 2017

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29 September 2017

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

29 September 2017

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

29 September 2017

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

29 September 2017

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Oxido-reduction is not the only mechanism allowing ions to traverse the ferritin protein shell

29 September 2017

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29 September 2017

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

29 September 2017

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

29 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.

29 September 2017

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29 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

29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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Hereditary ferritinopathy

29 September 2017

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29 September 2017

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29 September 2017

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Calculated electrostatic gradients in recombinant human H-chain ferritin

29 September 2017

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29 September 2017

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A quantitative analysis of isoferritins in select regions of aged, parkinsonian, and Alzheimer's diseased brains

29 September 2017

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Iron-catalyzed hydroxyl radical formation. Stringent requirement for free iron coordination site

29 September 2017

1 reference

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

29 September 2017

1 reference

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Predicting functional effect of human missense mutations using PolyPhen-2.

29 September 2017

1 reference

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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.

2 June 2018

1 reference

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A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies.

2 June 2018

1 reference

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De novo FTL mutation: a clinical, neuroimaging, and molecular study.

27 November 2018

1 reference

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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.

27 November 2018

1 reference

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Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation

27 November 2018

1 reference

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

27 November 2018

1 reference

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

27 November 2018

1 reference

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

27 November 2018

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Spectrum of movement disorders in neuroferritinopathy

27 November 2018

1 reference

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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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4642653

Palatal tremor and cognitive decline in neuroferritinopathy

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4642653

A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract

27 November 2018

1 reference

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The Role of the L-Chain in Ferritin Iron Incorporation

27 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

1 reference

12 December 2020

Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene

1 reference

12 December 2020

10.1016/J.NBD.2015.02.007

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6 June 2020

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