Tissue Specificity of a Human Mitochondrial Disease

(IscS-IscU)2Complex Structures Provide Insights into Fe2S2Biogenesis and Transfer

(2012) Elodie N. Marinoni et al.   ANGEWANDTE CHEMIE-INTERNATIONAL EDITION

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

Cysteine desulfurase Nfs1 and Pim1 protease control levels of Isu, the Fe-S cluster biogenesis scaffold

(2012) J.-Y. Song et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The defective splicing caused by the ISCU intron mutation in patients with myopathy with lactic acidosis is repressed by PTBP1 but can be derepressed by IGF2BP1

(2011) Angelica Nordin et al.   HUMAN MUTATION

Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron–sulphur cluster deficiency myopathy

(2011) Gittan Kollberg et al.   NEUROMUSCULAR DISORDERS

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

HEREDITARY ABNORMAL MUSCLE METABOLISM WITH HYPERKINETIC CIRCULATION DURING EXERCISE

(2010) H. Linderholm et al.   ACTA MEDICA SCANDINAVICA

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

(2010) Chi-Lin Tsai et al.   BIOCHEMISTRY

Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy

(2010) Petter S. Sanaker et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice

(2010) Angelica Nordin et al.   HUMAN GENETICS

Characterization of the human HSC20, an unusual DnaJ type III protein, involved in iron–sulfur cluster biogenesis

(2010) Helge Uhrigshardt et al.   HUMAN MOLECULAR GENETICS

Hydrogen peroxide inactivates the Escherichia coli Isc iron-sulphur assembly system, and OxyR induces the Suf system to compensate

(2010) Soojin Jang et al.   MOLECULAR MICROBIOLOGY

Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery

(2009) D. R. Crooks et al.   BLOOD

Clinical manifestation and a new ISCU mutation in iron–sulphur cluster deficiency myopathy

(2009) Gittan Kollberg et al.   BRAIN

Frataxin deficiency causes upregulation of mitochondrial Lon and ClpP proteases and severe loss of mitochondrial Fe-S proteins

(2009) Blanche Guillon et al.   FEBS Journal

Mechanical ventilation induces diaphragmatic mitochondrial dysfunction and increased oxidant production

(2009) Andreas N. Kavazis et al.   FREE RADICAL BIOLOGY AND MEDICINE

Human ISD11 is essential for both iron-sulfur cluster assembly and maintenance of normal cellular iron homeostasis

(2009) Y. Shi et al.   HUMAN MOLECULAR GENETICS

Splice Mutation in the Iron-Sulfur Cluster Scaffold Protein ISCU Causes Myopathy with Exercise Intolerance

(2008) Fanny Mochel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Escherichia coli FtnA acts as an iron buffer for re-assembly of iron–sulfur clusters in response to hydrogen peroxide stress

(2008) Jacob P. Bitoun et al.   BIOMETALS

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

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

Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect

(2008) A. Olsson et al.   HUMAN MOLECULAR GENETICS

Cell-Restricted Immortalization by Human Papillomavirus Correlates with Telomerase Activation and Engagement of the hTERT Promoter by Myc

(2008) X. Liu et al.   JOURNAL OF VIROLOGY