Time-resolved functional analysis of acute impairment offrataxinexpression in an inducible cell model of Friedreich ataxia

Compound heterozygousFXNmutations and clinical outcome in friedreich ataxia

(2016) Charles A. Galea et al.   ANNALS OF NEUROLOGY

A new cellular model to follow Friedreich's ataxia development in a time-resolved way

(2015) T. Vannocci et al.   Disease Models & Mechanisms

Conditional Deletion of NF-κB–Inducing Kinase (NIK) in Adult Mice Disrupts Mature B Cell Survival and Activation

(2015) Hans D. Brightbill et al.   JOURNAL OF IMMUNOLOGY

Complex I and ATP Content Deficiency in Lymphocytes from Friedreich's Ataxia

(2014) Mohammad Mehdi Heidari et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

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

Clinical features of Friedreich's ataxia: classical and atypical phenotypes

(2013) Michael H. Parkinson et al.   JOURNAL OF NEUROCHEMISTRY

Animal and cellular models of Friedreich ataxia

(2013) Morgane Perdomini et al.   JOURNAL OF NEUROCHEMISTRY

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

(2012) A. Martelli 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

Therapeutic Developments in Friedreich Ataxia

(2012) Robert B. Wilson   JOURNAL OF CHILD NEUROLOGY

Friedreich's ataxia: the vicious circle hypothesis revisited

(2011) Aurélien Bayot et al.   BMC Medicine

Mortality in Friedreich Ataxia

(2011) Amy Y. Tsou et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

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

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

Autosomal recessive ataxias: 20 types, and counting

(2010) Emília Katiane Embiruçu et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Human Iron−Sulfur Cluster Assembly, Cellular Iron Homeostasis, and Disease

(2010) Hong Ye et al.   BIOCHEMISTRY

PGC-1alpha Down-Regulation Affects the Antioxidant Response in Friedreich's Ataxia

(2010) Daniele Marmolino et al.   PLoS One

Current and emerging treatment options in the management of Friedreich ataxia

(2010) Michelangelo Michelangelo Mancuso   Neuropsychiatric Disease and Treatment

Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen

(2009) Nadège Calmels et al.   BMC Neurology

Friedreich ataxia: The clinical picture

(2009) Massimo Pandolfo   JOURNAL OF NEUROLOGY

Function and biogenesis of iron–sulphur proteins

(2009) Roland Lill   NATURE

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

Cell functions impaired by frataxin deficiency are restored by drug-mediated iron relocation

(2008) O. Kakhlon et al.   BLOOD

Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia

(2008) K. Li et al.   HUMAN MOLECULAR GENETICS

HDAC Inhibitors Correct Frataxin Deficiency in a Friedreich Ataxia Mouse Model

(2008) Myriam Rai et al.   PLoS One