Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes

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

(2013) Sze Chern Lim et al.   HUMAN MOLECULAR GENETICS

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

(2013) Nikhita Ajit Bolar et al.   HUMAN MOLECULAR GENETICS

Reactive Oxygen Species and Antioxidants in Pulmonary Hypertension

(2012) Chi-Ming Wong et al.   ANTIOXIDANTS & REDOX SIGNALING

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

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

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

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

Thiamine Pyrophosphokinase Deficiency in Encephalopathic Children with Defects in the Pyruvate Oxidation Pathway

(2011) Johannes A. Mayr et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Lipoic Acid Synthetase Deficiency Causes Neonatal-Onset Epilepsy, Defective Mitochondrial Energy Metabolism, and Glycine Elevation

(2011) Johannes A. Mayr 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

Mechanisms of mitochondrial diseases

(2011) Emil Ylikallio et al.   ANNALS OF MEDICINE

Primary and secondary CoQ10 deficiencies in humans

(2011) Catarina M. Quinzii et al.   BIOFACTORS

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

(2010) Hong Ye et al.   BIOCHEMISTRY

Mitochondrial fatty acid synthesis and respiration

(2010) J. Kalervo Hiltunen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Lipoic Acid Synthesis and Attachment in Yeast Mitochondria

(2009) Melissa S. Schonauer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lipoic Acid Synthase (LASY): A Novel Role in Inflammation, Mitochondrial Function, and Insulin Resistance

(2008) I. Padmalayam et al.   DIABETES