A novel neuroferritinopathy mouse model (FTL 498InsTC) shows progressive brain iron dysregulation, morphological signs of early neurodegeneration and motor coordination deficits. (Q36274219)

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

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23 February 2020

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

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23 February 2020

neurodegeneration

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23 February 2020

Letterio S. Politi

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23 February 2020

Francesca Cirulli

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23 February 2020

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23 February 2020

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23 February 2020

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Federica Maccarinelli

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23 February 2020

Antonella Pagani

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23 February 2020

Anna Cozzi

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23 February 2020

Franca Codazzi

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23 February 2020

Giuseppina Di Giacomo

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23 February 2020

Sara Capoccia

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23 February 2020

Stefania Rapino

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23 February 2020

Ottavio Cremona

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23 February 2020

Fabio Grohovaz

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23 February 2020

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4 November 2014

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23 February 2020

Neurobiology of Disease

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23 February 2020

81

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23 February 2020

119-133

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23 February 2020

Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms

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30 September 2017

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

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Lipofuscin: formation, effects and role of macroautophagy

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30 September 2017

Abnormal iron homeostasis and neurodegeneration

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30 September 2017

Iron metabolism in the CNS: implications for neurodegenerative diseases

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30 September 2017

Functional roles of neurotransmitters and neuromodulators in the dorsal striatum.

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30 September 2017

Neurodegeneration with brain iron accumulation

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30 September 2017

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

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30 September 2017

MRI findings in neuroferritinopathy

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30 September 2017

Iron-related MRI images in patients with pantothenate kinase-associated neurodegeneration (PKAN) treated with deferiprone: results of a phase II pilot trial

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Susceptibility-weighted imaging of the brain: current utility and potential applications

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Regulation of the 26S proteasome complex during oxidative stress

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30 September 2017

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

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30 September 2017

Bisretinoids of RPE lipofuscin: trigger for complement activation in age-related macular degeneration

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

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Cytosolic and mitochondrial ferritins in the regulation of cellular iron homeostasis and oxidative damage

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30 September 2017

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

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30 September 2017

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

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30 September 2017

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

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Tests to assess motor phenotype in mice: a user's guide

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

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30 September 2017

T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation

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30 September 2017

The comparative biology of neuromelanin and lipofuscin in the human brain

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30 September 2017

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

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30 September 2017

Mitochondrial ferritin expression in adult mouse tissues

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Lipofuscin: mechanisms of age-related accumulation and influence on cell function

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

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Iron handling in hippocampal neurons: activity-dependent iron entry and mitochondria-mediated neurotoxicity.

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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

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12 December 2020

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A vector for expressing foreign genes in the brains and hearts of transgenic mice

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Differential impairment of 20S and 26S proteasome activities in human hematopoietic K562 cells during oxidative stress

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10.1016/J.NBD.2014.10.023

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23 February 2020

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23 February 2020

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23 February 2020

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