Ontology highlight
ABSTRACT:
SUBMITTER: Bross P
PROVIDER: S-EPMC5006179 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Bross Peter P Fernandez-Guerra Paula P
Frontiers in molecular biosciences 20160831
Heat shock protein 60 (HSP60) forms together with heat shock protein 10 (HSP10) double-barrel chaperonin complexes that are essential for folding to the native state of proteins in the mitochondrial matrix space. Two extremely rare monogenic disorders have been described that are caused by missense mutations in the HSPD1 gene that encodes the HSP60 subunit of the HSP60/HSP10 chaperonin complex. Investigations of the molecular mechanisms underlying these disorders have revealed that different deg ...[more]