ArticleMolecular genetics and metabolism2010
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.
Article in Molecular genetics and metabolism, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 29 citations in OpenAlex.
- Mitochondrial Control of Myelination, Bioenergetics, Oxidative Stress, and the Pathogenesis of Optic Neuropathies.International journal of molecular sciences · 2026Review
- Molecular Mechanisms behind Inherited Neurodegeneration of the Optic Nerve.Biomolecules · 2021Review
- Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy.Translational vision science & technology · 2020Article
- Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.Neurology. Genetics · 2019Article
- Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.Neurogenetics · 2015Article
- Disturbed mitochondrial dynamics and neurodegenerative disorders.Nature reviews. Neurology · 2015Review
- Two novel compound heterozygous mutations inMolecular genetics and metabolism reports · 2014Article
- Mitochondrial fusion proteins and human diseases.Neurology research international · 2013Article
- The 3-methylglutaconic acidurias: what's new?Journal of inherited metabolic disease · 2012Review
- Mitochondrial disorders and the eye.Current opinion in ophthalmology · 2011Review
- Mitochondria: the next (neurode)generation.Neuron · 2011Review
- Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Progress in retinal and eye research · 2011Review
- A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.Development (Cambridge, England) · 2010Article
- Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.In vivo (Athens, Greece)Review
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Authors and funding
10 authors at 5 institutions in 4 countries.
Funding
Abstract
3-Methylglutaconic aciduria type III (3-MGCA type III), caused by recessive mutations in the 2-exon gene OPA3, is characterized by early-onset bilateral optic atrophy, later-onset extrapyramidal dysfunction, and increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid. Here we report the identification of a novel third OPA3 coding exon, the apparent product of a segmental duplication event, resulting in two gene transcripts, OPA3A and OPA3B. OPA3A deficiency (as in optic atrophy type 3) causes up-regulation of OPA3B. OPA3 protein function remains unknown, but it contains a putative mitochondrial leader sequence, mitochondrial sorting signal and a peroxisomal sorting signal. Our green fluorescent protein tagged OPA3 expression studies found its localization to be predominantly mitochondrial. These findings thus place the cellular metabolic defect of 3-MGCA type III in the mitochondrion rather than the peroxisome and implicate loss of OPA3A rather than gain of OPA3B in disease etiology.
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