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

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

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

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

Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation

(2011) Elena J. Tucker et al.   Cell Metabolism

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency

(2011) Katharina Danhauser et al.   MOLECULAR GENETICS AND METABOLISM

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

(2011) C. J. Bell et al.   Science Translational Medicine

Histidine 103 in Fra2 Is an Iron-Sulfur Cluster Ligand in the [2Fe-2S] Fra2-Grx3 Complex and Is Required forin VivoIron Signaling in Yeast

(2010) Haoran Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization

(2010) Jessie M. Cameron et al.   MITOCHONDRION

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

(2010) Tobias B Haack et al.   NATURE GENETICS

The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2

(2008) F. Sasarman et al.   HUMAN MOLECULAR GENETICS