Ontology highlight
ABSTRACT:
SUBMITTER: Ahting U
PROVIDER: S-EPMC4394698 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Ahting Uwe U Mayr Johannes A JA Vanlander Arnaud V AV Hardy Steven A SA Santra Saikat S Makowski Christine C Alston Charlotte L CL Zimmermann Franz A FA Abela Lucia L Plecko Barbara B Rohrbach Marianne M Spranger Stephanie S Seneca Sara S Rolinski Boris B Hagendorff Angela A Hempel Maja M Sperl Wolfgang W Meitinger Thomas T Smet Joél J Taylor Robert W RW Van Coster Rudy R Freisinger Peter P Prokisch Holger H Haack Tobias B TB
Frontiers in genetics 20150413
Disorders of the mitochondrial energy metabolism are clinically and genetically heterogeneous. An increasingly recognized subgroup is caused by defective mitochondrial iron-sulfur (Fe-S) cluster biosynthesis, with defects in 13 genes being linked to human disease to date. Mutations in three of them, NFU1, BOLA3, and IBA57, affect the assembly of mitochondrial [4Fe-4S] proteins leading to an impairment of diverse mitochondrial metabolic pathways and ATP production. Patients with defects in these ...[more]