(Q38121943)

29 August 2017

title

Mitochondrial pathophysiology in Friedreich's ataxia (English)

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29 August 2017

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Francesc Palau

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author name string

Pilar González-Cabo

series ordinal

1

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29 August 2017

language of work or name

English

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publication date

1 August 2013

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Journal of Neurochemistry

29 August 2017

published in

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29 August 2017

volume

126 Suppl 1

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29 August 2017

page(s)

53-64

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Bacterial frataxin CyaY is the gatekeeper of iron-sulfur cluster formation catalyzed by IscS

29 August 2017

cites work

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GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology

21 January 2018

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RNAi-mediated suppression of the mitochondrial iron chaperone, frataxin, in Drosophila

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Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin

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Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations

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Friedreich's ataxia: the vicious circle hypothesis revisited

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Mitofusin 2 tethers endoplasmic reticulum to mitochondria

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Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

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Central role and mechanisms of β-cell dysfunction and death in friedreich ataxia-associated diabetes

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Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia

21 January 2018

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Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes

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Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation

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Mitochondria as a central sensor for axonal degenerative stimuli.

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Role of axonal transport in neurodegenerative diseases

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Mitochondrial disorders in the nervous system

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Heterogeneity of nervous system mitochondria: location, location, location!

21 January 2018

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A non-essential function for yeast frataxin in iron-sulfur cluster assembly

21 January 2018

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Clinical and genetic abnormalities in patients with Friedreich's ataxia

21 January 2018

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Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies

21 January 2018

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Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria

21 January 2018

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Differential expression of PGC-1α and metabolic sensors suggest age-dependent induction of mitochondrial biogenesis in Friedreich ataxia fibroblasts

21 January 2018

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An interaction between frataxin and Isu1/Nfs1 that is crucial for Fe/S cluster synthesis on Isu1.

21 January 2018

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Frataxin interacts functionally with mitochondrial electron transport chain proteins

21 January 2018

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Flavin adenine dinucleotide rescues the phenotype of frataxin deficiency

21 January 2018

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Disruption of the ATP-binding cassette B7 (ABTM-1/ABCB7) induces oxidative stress and premature cell death in Caenorhabditis elegans

21 January 2018

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Classification of the hereditary ataxias and paraplegias

21 January 2018

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Yeast frataxin solution structure, iron binding, and ferrochelatase interaction.

21 January 2018

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The heart in Friedreich's ataxia

21 January 2018

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Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia.

21 January 2018

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Mitochondrial mayhem: the mitochondrion as a modulator of iron metabolism and its role in disease

21 January 2018

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The peripheral sensory pathway in friedreich's ataxia. An examination by light and electron microscopy of the posterior nerve roots, posterior root ganglia, and peripheral sensory nerves in cases of friedreich's ataxia.

21 January 2018

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The sensory neuropathy of Friedreich's ataxia: an autopsy study of a case with prolonged survival.

21 January 2018

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SPG20 protein spartin associates with cardiolipin via its plant-related senescence domain and regulates mitochondrial Ca2+ homeostasis

21 January 2018

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Friedreich's ataxia: pathology, pathogenesis, and molecular genetics

21 January 2018

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Friedreich ataxia: neuropathology revised

21 January 2018

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The cerebellar component of Friedreich's ataxia

21 January 2018

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Friedreich's ataxia causes redistribution of iron, copper, and zinc in the dentate nucleus

21 January 2018

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Human NADH:ubiquinone oxidoreductase deficiency: radical changes in mitochondrial morphology?

21 January 2018

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Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

21 January 2018

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Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA⋅TTC triplet repeat instability

21 January 2018

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Maturation of cellular Fe-S proteins: an essential function of mitochondria

21 January 2018

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Function and biogenesis of iron-sulphur proteins

21 January 2018

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The role of mitochondria in cellular iron-sulfur protein biogenesis and iron metabolism

21 January 2018

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Metabolic control through the PGC-1 family of transcription coactivators

21 January 2018

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Causative role of oxidative stress in a Drosophila model of Friedreich ataxia.

21 January 2018

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Mitochondrial biogenesis and healthy aging

21 January 2018

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Frataxin knockdown causes loss of cytoplasmic iron-sulfur cluster functions, redox alterations and induction of heme transcripts

21 January 2018

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Frataxin deficiency induces Schwann cell inflammation and death

21 January 2018

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Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models

21 January 2018

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Iron and iron-responsive proteins in the cardiomyopathy of Friedreich's ataxia

21 January 2018

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Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex

21 January 2018

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Characterization of iron-sulfur protein assembly in isolated mitochondria. A requirement for ATP, NADH, and reduced iron

21 January 2018

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Altered lipid metabolism in a Drosophila model of Friedreich's ataxia.

21 January 2018

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Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease

21 January 2018

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Silencing of frataxin gene expression triggers p53-dependent apoptosis in human neuron-like cells

21 January 2018

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Friedreich ataxia: the clinical picture

21 January 2018

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Actin glutathionylation increases in fibroblasts of patients with Friedreich's ataxia: a potential role in the pathogenesis of the disease

21 January 2018

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Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease

21 January 2018

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Silencing of the Charcot-Marie-Tooth disease-associated gene GDAP1 induces abnormal mitochondrial distribution and affects Ca2+ homeostasis by reducing store-operated Ca2+ entry

21 January 2018

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Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

21 January 2018

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Mitochondrial functional interactions between frataxin and Isu1p, the iron-sulfur cluster scaffold protein, in Saccharomyces cerevisiae

21 January 2018

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Relation of cytosolic iron excess to cardiomyopathy of Friedreich's ataxia

21 January 2018

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Mitochondrial iron trafficking and the integration of iron metabolism between the mitochondrion and cytosol

21 January 2018

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Frataxin activates mitochondrial energy conversion and oxidative phosphorylation

21 January 2018

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Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

21 January 2018

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Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model

21 January 2018

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Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities

21 January 2018

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Autophagy induction extends lifespan and reduces lipid content in response to frataxin silencing in C. elegans

21 January 2018

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Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches.

21 January 2018

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Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex.

21 January 2018

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Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells.

21 January 2018

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Mitochondria: the next (neurode)generation

21 January 2018

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Friedreich ataxia: the oxidative stress paradox

21 January 2018

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HSC20 interacts with frataxin and is involved in iron-sulfur cluster biogenesis and iron homeostasis

21 January 2018

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Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.

21 January 2018

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Defects in mitochondrial axonal transport and membrane potential without increased reactive oxygen species production in a Drosophila model of Friedreich ataxia

21 January 2018

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Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia

21 January 2018

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Friedreich's ataxia: oxidative stress and cytoskeletal abnormalities.

21 January 2018

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Quality control of mitochondria: protection against neurodegeneration and ageing

21 January 2018

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PINK1-dependent recruitment of Parkin to mitochondria in mitophagy

21 January 2018

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Friedreich's ataxia reveals a mechanism for coordinate regulation of oxidative metabolism via feedback inhibition of the SIRT3 deacetylase

21 January 2018

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Increased iron in the dentate nucleus of patients with Friedrich's ataxia

21 January 2018

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Identification of nonferritin mitochondrial iron deposits in a mouse model of Friedreich ataxia

21 January 2018

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Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue

21 January 2018

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The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis

21 January 2018

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Iron-sulfur cluster biosynthesis. Characterization of frataxin as an iron donor for assembly of [2Fe-2S] clusters in ISU-type proteins

21 January 2018

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Frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis

21 January 2018

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Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/JNC.12303

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29 August 2017

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