… manifesting as: normal early development, acute infantile … report of a mitochondrial
neurodegenerative disorder due to … A mutation in a mitochondrial targeting peptide has been …

… Mutations in genes encoding for NFU1, BOLA3, IBA57, ISCA2 and ISCA1 lead to multiple
mitochondrial dysfunction … ISCA1 mutation in a patient with infantile-onset leukodystrophy …

… , which are caused by mutations in NFU1, BOLA3, IBA57, ISCA2, ISCA1 … group of
neurodegenerative disorders related to a defect in … in infant patients (Uziel et al. 2011). A new …

… , a neurodegenerative disease caused by mutations in frataxin … mitochondrial dysfunction
syndromes (MMDSs) caused by … of this pathogenic mutation on destabilizing the ISCA1-ISCA2 …

… No evidence of mitochondrial disease other than bilateral optic atrophy was noted. In cases
… In conclusion, MMDS4 should be considered in infantile developmental regression with …

… Gly104Cys), in a 2-month-old infant of Cuban descent who … IBA57-[2Fe-2S]-ISCA2 complex
is capable of activating apo … the existence of a putative mutational hotspot, we were unable to …

… with such mitochondrial dysfunction; however neurological manifestations do predominate.
… MMDS4 (MIM #616370) is caused by deficiency of ISCA2. Around 20 patients have now …

… Since 2011, mutations in their genes leading to five multiple … ISCA2 in the maturation of
mitochondrial [4Fe-4S] proteins [94]. Interestingly, mitochondrial morphology with mitochondrial …

… The neurodegenerative changes are frequently … iron-sulfur cluster assembly 2 (ISCA2) and
other proteins involved in lipoic … gene defects causing primary mitochondrial disease are rare …

… in the biosynthesis of mitochondrial [4Fe-4S] … mutations in either ISCA1, ISCA2, or IBA57
genes are associated with similar disease phenotypes that include neurodegenerative defects, …