Ontology highlight
ABSTRACT:
SUBMITTER: Farhan SM
PROVIDER: S-EPMC3907916 | biostudies-literature | 2014 Jan
REPOSITORIES: biostudies-literature
Farhan Sali M K SM Wang Jian J Robinson John F JF Lahiry Piya P Siu Victoria M VM Prasad Chitra C Kronick Jonathan B JB Ramsay David A DA Rupar C Anthony CA Hegele Robert A RA
Molecular genetics & genomic medicine 20131118 1
Iron-sulfur (Fe-S) clusters are a class of highly conserved and ubiquitous prosthetic groups with unique chemical properties that allow the proteins that contain them, Fe-S proteins, to assist in various key biochemical pathways. Mutations in Fe-S proteins often disrupt Fe-S cluster assembly leading to a spectrum of severe disorders such as Friedreich's ataxia or iron-sulfur cluster assembly enzyme (ISCU) myopathy. Herein, we describe infantile mitochondrial complex II/III deficiency, a novel au ...[more]