Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

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

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

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings

(2012) Tobias B. Haack et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations

(2012) E. V. Tenisch et al.   NEUROLOGY

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

(2012) Haiyan Xia et al.   PLoS One

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

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

HSC20 interacts with frataxin and is involved in iron–sulfur cluster biogenesis and iron homeostasis

(2011) Yuxi Shan et al.   HUMAN MOLECULAR GENETICS

Isd11p Protein Activates the Mitochondrial Cysteine Desulfurase Nfs1p Protein

(2011) Alok Pandey et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping

(2011) D. L. Bruno et al.   JOURNAL OF MEDICAL GENETICS

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

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

(2010) Lisa G. Riley et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Frataxin and Mitochondrial FeS Cluster Biogenesis

(2010) Timothy L. Stemmler et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A general lack of compensation for gene dosage in yeast

(2010) Michael Springer et al.   Molecular Systems Biology

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

(2010) Sarah E Calvo et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Iron–sulfur proteins in health and disease

(2010) Alex Sheftel et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

(2009) Avraham Zeharia et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biophysical Characterization of the Iron in Mitochondria from Atm1p-DepletedSaccharomyces cerevisiae

(2009) Ren Miao et al.   BIOCHEMISTRY

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

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

Human ISCA1 Interacts with IOP1/NARFL and Functions in Both Cytosolic and Mitochondrial Iron-Sulfur Protein Biogenesis

(2009) Daisheng Song et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Function and biogenesis of iron–sulphur proteins

(2009) Roland Lill   NATURE

A molecular barcoded yeast ORF library enables mode-of-action analysis of bioactive compounds

(2009) Cheuk Hei Ho et al.   NATURE BIOTECHNOLOGY

Enzymatic assembly of DNA molecules up to several hundred kilobases

(2009) Daniel G Gibson et al.   NATURE METHODS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

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

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

A Novel Role for Human Nfs1 in the Cytoplasm

(2008) Zvonimir Marelja et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Iron–sulfur cluster biogenesis and human disease

(2008) Tracey A. Rouault et al.   TRENDS IN GENETICS