Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and mouse model fibroblasts

Frataxin Deficiency Promotes Excess Microglial DNA Damage and Inflammation that Is Rescued by PJ34

(2016) Yan Shen et al.   PLoS One

A novel GAA-repeat-expansion-based mouse model of Friedreich's ataxia

(2015) S. Anjomani Virmouni et al.   Disease Models & Mechanisms

p53 directly regulates the transcription of the human frataxin gene and its lack of regulation in tumor cells decreases the utilization of mitochondrial iron

(2014) Rina Shimizu et al.   GENE

Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia

(2014) Morgane Perdomini et al.   NATURE MEDICINE

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

Therapeutic strategies in Friedreich's Ataxia

(2013) Timothy E. Richardson et al.   BRAIN RESEARCH

The Fetal Mouse Is a Sensitive Genotoxicity Model That Exposes Lentiviral-associated Mutagenesis Resulting in Liver Oncogenesis

(2013) Ali Nowrouzi et al.   MOLECULAR THERAPY

γH2AX as a marker of DNA double strand breaks and genomic instability in human population studies

(2013) Vanessa Valdiglesias et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia

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

Friedreich Ataxia

(2012) Massimo Pandolfo   JOURNAL OF CHILD NEUROLOGY

Cardiomyopathy in Friedreich Ataxia

(2012) R. Mark Payne et al.   JOURNAL OF CHILD NEUROLOGY

Clinical Features of Friedreich Ataxia

(2012) Martin B. Delatycki et al.   JOURNAL OF CHILD NEUROLOGY

Extensive Methylation of Promoter Sequences Silences Lentiviral Transgene Expression During Stem Cell Differentiation In Vivo

(2012) Friederike Herbst et al.   MOLECULAR THERAPY

Estrogen Prevents Oxidative Damage to the Mitochondria in Friedreich's Ataxia Skin Fibroblasts

(2012) Timothy E. Richardson et al.   PLoS One

Multispectral imaging flow cytometry reveals distinct frequencies of γ-H2AX foci induction in DNA double strand break repair defective human cell lines

(2011) Emma C. Bourton et al.   CYTOMETRY PART A

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

(2011) G. M. Palomo et al.   HUMAN MOLECULAR GENETICS

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

(2011) Arnulf H. Koeppen   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

(2011) Chiranjeevi Sandi et al.   NEUROBIOLOGY OF DISEASE

Mammalian Frataxin: An Essential Function for Cellular Viability through an Interaction with a Preformed ISCU/NFS1/ISD11 Iron-Sulfur Assembly Complex

(2011) Stéphane Schmucker et al.   PLoS One

Overexpression of Human and Fly Frataxins in Drosophila Provokes Deleterious Effects at Biochemical, Physiological and Developmental Levels

(2011) Juan A. Navarro et al.   PLoS One

Frataxin participates to the hypoxia-induced response in tumors

(2011) I Guccini et al.   Cell Death & Disease

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

(2010) René Thierbach et al.   BIOCHEMICAL JOURNAL

Codon optimization of human factor VIII cDNAs leads to high-level expression

(2010) N. J. Ward et al.   BLOOD

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

Senescent mesenchymal cells accumulate in human fibrosis by a telomere-independent mechanism and ameliorate fibrosis through matrix metalloproteinases

(2010) Gayani Nadika Pitiyage et al.   JOURNAL OF PATHOLOGY

Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function

(2010) Mary A. Selak et al.   MITOCHONDRION

The DNA Damage Response: Making It Safe to Play with Knives

(2010) Alberto Ciccia et al.   MOLECULAR CELL

A rapid, noninvasive immunoassay for frataxin: Utility in assessment of Friedreich ataxia

(2010) Eric C. Deutsch et al.   MOLECULAR GENETICS AND METABOLISM

Genomic instability — an evolving hallmark of cancer

(2010) Simona Negrini et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

Cerebrospinal fluid biomarkers in Guillain-Barré syndrome – Where do we stand?

(2009) Johannes Brettschneider et al.   JOURNAL OF NEUROLOGY