Human diseases associated with defects in assembly of OXPHOS complexes.

ABSTRACT: The structural biogenesis and functional proficiency of the multiheteromeric complexes forming the mitochondrial oxidative phosphorylation system (OXPHOS) require the concerted action of a number of chaperones and other assembly factors, most of which are specific for each complex. Mutations in a large number of these assembly factors are responsible for mitochondrial disorders, in most cases of infantile onset, typically characterized by biochemical defects of single specific complexes. In fact, pathogenic mutations in complex-specific assembly factors outnumber, in many cases, the repertoire of mutations found in structural subunits of specific complexes. The identification of patients with specific defects in assembly factors has provided an important contribution to the nosological cha

SUBMITTER: Ghezzi D 

PROVIDER: S-EPMC6056716 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature