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Article

A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.

Development (Cambridge, England) - 1 Aug 2010

Pei Wuhong, Kratz Lisa E, Bernardini Isa, Sood Raman, Yokogawa Tohei, Dorward Heidi, Ciccone Carla, Kelley Richard I, Anikster Yair, Burgess Harold A, Huizing Marjan, Feldman Benjamin

Abstract excerpt

Costeff Syndrome, which is caused by mutations in the OPTIC ATROPHY 3 (OPA3) gene, is an early-onset syndrome characterized by urinary excretion of 3-methylglutaconic acid (MGC), optic atrophy and movement disorders, including ataxia and extrapyramidal dysfunction. The OPA3 protein is enriched in...

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Share to Acyl Coenzyme A
Share to Amino Acid Metabolism, Inborn Errors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20627962
DOI: 10.1242/dev.043745
PMCID: PMC2927703

Genes

OPA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20627962-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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