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Article

Metabolomics hallmarks OPA1 variants correlating with their in vitro phenotype and predicting clinical severity.

Human molecular genetics - 28 May 2020

Chao de la Barca Juan Manuel, Fogazza Mario, Rugolo Michela, Chupin Stéphanie, Del Dotto Valentina, Ghelli Anna Maria, Carelli Valerio, Simard Gilles, Procaccio Vincent, Bonneau Dominique, Lenaers Guy, Reynier Pascal, Zanna Claudia

Abstract excerpt

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...

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Identifiers

PMID: 32202296
DOI: 10.1093/hmg/ddaa047
PMCID: PMC7254852

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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