Lipoic acid (LA) is the cofactor of the E2 subunit of mitochondrial ketoacid dehydrogenases
and plays a major role in oxidative decarboxylation. De novo LA biosynthesis is dependent …

Defects of the Fe/S cluster biosynthesis represent a subgroup of diseases affecting the
mitochondrial energy metabolism. In the last years, mutations in four genes (NFU1, BOLA3 …

Background KARS encodes lysyl-transfer ribonucleic acid (tRNA) synthetase, which
catalyzes the aminoacylation of tRNA-Lys in the cytoplasm and mitochondria. Eleven …

Multiple mitochondrial dysfunction syndromes (MMDS) comprise a group of severe
autosomal recessive diseases characterized by impaired respiration and lipoic acid …

The aim of this review is to summarize and discuss recent findings and new insights in the
etiology and phenotype of metabolic myopathies. The review relies on a systematic literature …

Abstract Iron–sulfur (Fe–S) clusters are inorganic cofactors that are fundamental to several
biological processes in all three kingdoms of life. In most organisms, Fe–S clusters are …

Iron-sulfur clusters (ISCs) are highly conserved moieties embedded into numerous crucial
proteins in almost all bacteria, plants and mammals. As such, ISC biosynthesis is critical to …

IBA57 is involved in the biogenesis of mitochondrial [4Fe‐4S] proteins. Eighteen cases with
IBA57 mutations have been reported to date. We described a novel phenotype in 11 …

In mitochondria, a complex protein machinery is devoted to the maturation of iron-sulfur
cluster proteins. Structural information on the last steps of the machinery, which involve …

Background and purpose Mitochondrial diseases (MDs) are heterogeneous disorders
caused by mutations in nuclear DNA (nDNA) or mitochondrial DNA (mtDNA) associated with …