Ontology highlight
ABSTRACT:
SUBMITTER: Caglayan S
PROVIDER: S-EPMC7251951 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
iScience 20200511 6
Optic atrophy 1 (OPA1), a GTPase at the inner mitochondrial membrane involved in regulating mitochondrial fusion, stability, and energy output, is known to be crucial for neural development: Opa1 heterozygous mice show abnormal brain development, and inactivating mutations in OPA1 are linked to human neurological disorders. Here, we used genetically modified human embryonic and patient-derived induced pluripotent stem cells and reveal that OPA1 haploinsufficiency leads to aberrant nuclear DNA me ...[more]