Ontology highlight
ABSTRACT:
SUBMITTER: Chao de la Barca JM
PROVIDER: S-EPMC7254852 | biostudies-literature | 2020 May
REPOSITORIES: biostudies-literature
Chao de la Barca Juan Manuel JM Fogazza Mario M Rugolo Michela M Chupin Stéphanie S Del Dotto Valentina V Ghelli Anna Maria AM Carelli Valerio V Simard Gilles G Procaccio Vincent V Bonneau Dominique D Lenaers Guy G Reynier Pascal P Zanna Claudia C
Human molecular genetics 20200501 8
Interpretation of variants of uncertain significance is an actual major challenge. We addressed this question on a set of OPA1 missense variants responsible for variable severity of neurological impairments. We used targeted metabolomics to explore the different signatures of OPA1 variants expressed in Opa1 deleted mouse embryonic fibroblasts (Opa1-/- MEFs), grown under selective conditions. Multivariate analyses of data discriminated Opa1+/+ from Opa1-/- MEFs metabolic signatures and classified ...[more]