Neurodegeneration in Friedreich’s Ataxia: From Defective Frataxin to Oxidative Stress

Frataxin Deficiency Leads to Defects in Expression of Antioxidants and Nrf2 Expression in Dorsal Root Ganglia of the Friedreich's Ataxia YG8R Mouse Model

(2013) Yuxi Shan et al.   ANTIOXIDANTS & REDOX SIGNALING

Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies

(2013) Aurélien Bayot et al.   HUMAN MOLECULAR GENETICS

Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by vitamin B3

(2013) P. K. Chan et al.   HUMAN MOLECULAR GENETICS

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

(2012) Roland Lill et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Metal ions as modulators of protein conformation and misfolding in neurodegeneration

(2012) Sónia S. Leal et al.   COORDINATION CHEMISTRY REVIEWS

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

(2012) A. Hick et al.   Disease Models & Mechanisms

Biogenesis of iron-sulfur clusters in mammalian cells: new insights and relevance to human disease

(2012) T. A. Rouault   Disease Models & Mechanisms

Apn1 AP-endonuclease is essential for the repair of oxidatively damaged DNA bases in yeast frataxin-deficient cells

(2012) S. Lefevre et al.   HUMAN MOLECULAR GENETICS

Missense Mutations Linked to Friedreich Ataxia Have Different but Synergistic Effects on Mitochondrial Frataxin Isoforms

(2012) Hongqiao Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A0001 in Friedreich ataxia: Biochemical characterization and effects in a clinical trial

(2012) David R. Lynch et al.   MOVEMENT DISORDERS

Changes in mitochondrial glutathione levels and protein thiol oxidation in ∆yfh1 yeast cells and the lymphoblasts of patients with Friedreich's ataxia

(2011) A.L. Bulteau et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Friedreich's ataxia: the vicious circle hypothesis revisited

(2011) Aurélien Bayot et al.   BMC Medicine

The yeast metacaspase is implicated in oxidative stress response in frataxin-deficient cells

(2011) Sophie Lefevre et al.   FEBS LETTERS

Infectious delivery and long-term persistence of transgene expression in the brain by a 135-kb iBAC-FXN genomic DNA expression vector

(2011) A Gimenez-Cassina et al.   GENE THERAPY

A TAT–Frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreich's ataxia mouse model

(2011) Piyush M. Vyas et al.   HUMAN MOLECULAR GENETICS

Neuroinflammation in amyotrophic lateral sclerosis: role of glial activation in motor neuron disease

(2011) Thomas Philips et al.   LANCET NEUROLOGY

Initial experience in the treatment of inherited mitochondrial disease with EPI-743

(2011) Gregory M. Enns et al.   MOLECULAR GENETICS AND METABOLISM

The Role of CyaY in Iron Sulfur Cluster Assembly on the E. coli IscU Scaffold Protein

(2011) Clara Iannuzzi et al.   PLoS One

Pathology and pathogenesis of sensory neuropathy in Friedreich’s ataxia

(2010) Jennifer A. Morral et al.   ACTA NEUROPATHOLOGICA

Friedreich Ataxia: Molecular Mechanisms, Redox Considerations, and Therapeutic Opportunities

(2010) Renata Santos et al.   ANTIOXIDANTS & REDOX SIGNALING

Base Excision Repair and Lesion-Dependent Subpathways for Repair of Oxidative DNA Damage

(2010) David Svilar et al.   ANTIOXIDANTS & REDOX SIGNALING

The Friedreich's ataxia protein frataxin modulates DNA base excision repair in prokaryotes and mammals

(2010) René Thierbach et al.   BIOCHEMICAL JOURNAL

Friedreich's Ataxia Induced Pluripotent Stem Cells Model Intergenerational GAA⋅TTC Triplet Repeat Instability

(2010) Sherman Ku et al.   Cell Stem Cell

Does oxidative stress contribute to the pathology of Friedreich’s ataxia? A radical question

(2010) Jeffrey S. Armstrong et al.   FASEB JOURNAL

Normal and Friedreich Ataxia Cells Express Different Isoforms of Frataxin with Complementary Roles in Iron-Sulfur Cluster Assembly

(2010) Oleksandr Gakh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Frataxin and Mitochondrial FeS Cluster Biogenesis

(2010) Timothy L. Stemmler et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Enriched Population of PNS Neurons Derived from Human Embryonic Stem Cells as a Platform for Studying Peripheral Neuropathies

(2010) Moran Valensi-Kurtz et al.   PLoS One

Nrg1/ErbB signaling networks in Schwann cell development and myelination

(2010) Jason Newbern et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Generation of Induced Pluripotent Stem Cell Lines from Friedreich Ataxia Patients

(2010) Jun Liu et al.   Stem Cell Reviews and Reports

Structural bases for the interaction of frataxin with the central components of iron–sulphur cluster assembly

(2010) Filippo Prischi et al.   Nature Communications

Altered Gene Expression and DNA Damage in Peripheral Blood Cells from Friedreich's Ataxia Patients: Cellular Model of Pathology

(2010) Astrid C. Haugen et al.   PLoS Genetics

The dorsal root ganglion in Friedreich’s ataxia

(2009) Arnulf H. Koeppen et al.   ACTA NEUROPATHOLOGICA

The conserved Trp155 in human frataxin as a hotspot for oxidative stress related chemical modifications

(2009) Ana R. Correia et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Iron-binding activity in yeast frataxin entails a trade off with stability in the α1/β1 acidic ridge region

(2009) Ana R. Correia et al.   BIOCHEMICAL JOURNAL

Frataxin deficiency induces Schwann cell inflammation and death

(2009) Chunye Lu et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Oligomeric Yeast Frataxin Drives Assembly of Core Machinery for Mitochondrial Iron-Sulfur Cluster Synthesis

(2009) Hongqiao Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Nrf2-Antioxidant Response Element Signaling Pathway and Its Activation by Oxidative Stress

(2009) Truyen Nguyen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Friedreich ataxia: The clinical picture

(2009) Massimo Pandolfo   JOURNAL OF NEUROLOGY

Friedreich's ataxia: Oxidative stress and cytoskeletal abnormalities

(2009) Marco Sparaco et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Overexpression of the yeast frataxin homolog (Yfh1): Contrasting effects on iron–sulfur cluster assembly, heme synthesis and resistance to oxidative stress

(2009) Alexandra Seguin et al.   MITOCHONDRION

Impaired Nuclear Nrf2 Translocation Undermines the Oxidative Stress Response in Friedreich Ataxia

(2009) Vincent Paupe et al.   PLoS One

The First Cellular Models Based on Frataxin Missense Mutations That Reproduce Spontaneously the Defects Associated with Friedreich Ataxia

(2009) Nadège Calmels et al.   PLoS One

Axon-Glial Signaling and the Glial Support of Axon Function

(2008) Klaus-Armin Nave et al.   Annual Review of Neuroscience

A Novel Mitochondrial Heteroplasmic C13806A Point Mutation Associated with Iranian Friedreich’s Ataxia

(2008) Mohammad Mehdi Heidari et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

Dynamics, stability and iron-binding activity of frataxin clinical mutants

(2008) Ana R. Correia et al.   FEBS Journal

Overexpression of frataxin in the mitochondria increases resistance to oxidative stress and extends lifespan inDrosophila

(2008) Alexander P. Runko et al.   FEBS LETTERS

Glutathione-dependent redox status of frataxin-deficient cells in a yeast model of Friedreich's ataxia

(2008) F. Auchere et al.   HUMAN MOLECULAR GENETICS

The in vivo mitochondrial two-step maturation of human frataxin

(2008) Stéphane Schmucker et al.   HUMAN MOLECULAR GENETICS

Assembly of the Iron-binding Protein Frataxin inSaccharomyces cerevisiaeResponds to Dynamic Changes in Mitochondrial Iron Influx and Stress Level

(2008) Oleksandr Gakh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Binding of Yeast Frataxin to the Scaffold for Fe-S Cluster Biogenesis, Isu

(2008) Tao Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Hydrogen peroxide scavenging rescues frataxin deficiency in a Drosophila model of Friedreich's ataxia

(2008) P. R. Anderson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA