Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

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

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

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

The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation

(2012) Alex D. Sheftel et al.   MOLECULAR BIOLOGY OF THE CELL

Mutations in Iron-Sulfur Cluster Scaffold Genes NFU1 and BOLA3 Cause a Fatal Deficiency of Multiple Respiratory Chain and 2-Oxoacid Dehydrogenase Enzymes

(2011) Jessie M. Cameron et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins

(2011) Aleix Navarro-Sastre et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CNV-WebStore: Online CNV Analysis, Storage and Interpretation

(2011) Geert Vandeweyer et al.   BMC BIOINFORMATICS

Specialized Function of Yeast Isa1 and Isa2 Proteins in the Maturation of Mitochondrial [4Fe-4S] Proteins

(2011) Ulrich Mühlenhoff et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Stage-specific requirement for Isa1 and Isa2 proteins in the mitochondrion of Trypanosoma brucei and heterologous rescue by human and Blastocystis orthologues

(2011) Shaojun Long et al.   MOLECULAR MICROBIOLOGY

Eukaryotic DNA polymerases require an iron-sulfur cluster for the formation of active complexes

(2011) Daili J A Netz et al.   Nature Chemical Biology

Identification of Novel Oxidized Protein Substrates and Physiological Partners of the Mitochondrial ATP-dependent Lon-like Protease Pim1

(2010) Aurélien Bayot et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cytosolic Iron-Sulfur Cluster Assembly (CIA) System: Factors, Mechanism, and Relevance to Cellular Iron Regulation

(2010) Anil K. Sharma et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A role for tetrahydrofolates in the metabolism of iron-sulfur clusters in all domains of life

(2010) J. C. Waller et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Humans possess two mitochondrial ferredoxins, Fdx1 and Fdx2, with distinct roles in steroidogenesis, heme, and Fe/S cluster biosynthesis

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

Human Ind1, an Iron-Sulfur Cluster Assembly Factor for Respiratory Complex I

(2009) A. D. Sheftel et al.   MOLECULAR AND CELLULAR BIOLOGY

Function and biogenesis of iron–sulphur proteins

(2009) Roland Lill   NATURE

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

Hidden Markov models for the assessment of chromosomal alterations using high-throughput SNP arrays

(2008) Robert B. Scharpf et al.   Annals of Applied Statistics

Maturation of Iron-Sulfur Proteins in Eukaryotes: Mechanisms, Connected Processes, and Diseases

(2008) Roland Lill et al.   Annual Review of Biochemistry

The iron–sulphur protein Ind1 is required for effective complex I assembly

(2008) Katrine Bych et al.   EMBO JOURNAL

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

Human Nbp35 Is Essential for both Cytosolic Iron-Sulfur Protein Assembly and Iron Homeostasis

(2008) O. Stehling et al.   MOLECULAR AND CELLULAR BIOLOGY