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

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

Novel Frataxin Isoforms May Contribute to the Pathological Mechanism of Friedreich Ataxia

(2012) Haiyan Xia et al.   PLoS One

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

(2012) M. Whitnall et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Friedreich’s Ataxia Variants I154F and W155R Diminish Frataxin-Based Activation of the Iron–Sulfur Cluster Assembly Complex

(2011) Chi-Lin Tsai et al.   BIOCHEMISTRY

Structure–Function Analysis of Friedreich’s Ataxia Mutants Reveals Determinants of Frataxin Binding and Activation of the Fe–S Assembly Complex

(2011) Jennifer Bridwell-Rabb et al.   BIOCHEMISTRY

Proteins with neomorphic moonlighting functions in disease

(2011) Constance J. Jeffery   IUBMB LIFE

Mutations in the Dimer Interface of Dihydrolipoamide Dehydrogenase Promote Site-specific Oxidative Damages in Yeast and Human Cells

(2011) Rachael A. Vaubel et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Oligomerization Propensity and Flexibility of Yeast Frataxin Studied by X-ray Crystallography and Small-Angle X-ray Scattering

(2011) Christopher A.G. Söderberg et al.   JOURNAL OF MOLECULAR BIOLOGY

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

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

A Combined Nucleic Acid and Protein Analysis in Friedreich Ataxia: Implications for Diagnosis, Pathogenesis and Clinical Trial Design

(2011) Francesco Saccà et al.   PLoS One

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

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

(2010) Hong Ye et al.   BIOCHEMISTRY

Human Frataxin Is an Allosteric Switch That Activates the Fe−S Cluster Biosynthetic Complex

(2010) Chi-Lin Tsai et al.   BIOCHEMISTRY

Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin

(2010) Ivano Condò et al.   HUMAN MOLECULAR GENETICS

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

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

(2010) D. R. Richardson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

Friedreich ataxia: The clinical picture

(2009) Massimo Pandolfo   JOURNAL OF NEUROLOGY

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

DNA triplexes and Friedreich ataxia

(2008) Robert D. Wells   FASEB JOURNAL

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

(2008) K. Li 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

Posttranslational Regulation of the Scaffold for Fe-S Cluster Biogenesis, Isu

(2008) Amy J. Andrew et al.   MOLECULAR BIOLOGY OF THE CELL