… mitochondrial disease (SMD) arises due to mutation of … 3) [4Fe-4S] biosynthesis: IBA57,
ISCA1 and ISCA2 facilitate the … severe yet heterogeneous neurodegenerative disorders sharing …

… of a rapidly progressive stepwise neurodegenerative process [13] . … mtDNA mutations that
occur in a small fraction of the total … ) can cause mtDNA depletion and severe neonatal/infantile …

… mtDNA point mutation screening and mtDNA MLPA analysis (Figure 1). The inclusion criteria
were as follows: patients who were included in the WES or TES study with possible PMD …

… ISCA2, play a role in maturation of [4Fe-4S] clusters which are required for multiple mitochondrial
enzymes including mitochondrial … Here we describe an infant with microcephaly who …

… Due to mutation in the IBA57 gene the level of mitochondrial iron-sulfur (4Fe-4S) proteins …
by wild type and mutant IBA57 (Ajit Bolar et al., 2013). About 21 mutations in the IBA57 gene …

… referred to as multiple mitochondrial dysfunction syndromes (► … This was followed by
neurodegeneration over the course of … The majority of ISCA2 deficient individuals were infantile …

… of several human diseases caused by mutations in NFU1, … in mitochondria and showed that:
(a) ISCA1 and ISCA2 formed … a profound growth defect caused by mitochondrial dysfunction, …

… These include infant mitochondrial complex II and III deficiency caused by NFS1 … The
mutation of ISCA2 gene c.229G>A results in amino acid substitution Gly77Ser, which is within the …

… in mitochondrial disease diagnosis, focusing on the mutational … with various disease
conditions including neurodegenerative … of infantile mitochondrial encephalopathy and complex I …

… central imaging features of mitochondrial diseases in children, as … The neurodegenerative
disorder characterized by … assembly factors described, IBA57 and ISCA2 (two iron/sulfur …