ArticleFrontiers in genetics2015
A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.
Article in Frontiers in genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 46 citations in OpenAlex.
- Loss of Function of AFG3L2 Leading to Developmental and Epileptic Encephalopathy.CNS neuroscience & therapeutics · 2026Article
- The Connection Between Cellular Metabolism and Retinal Disease.Advances in experimental medicine and biology · 2025Review
- Mitochondrial Parkinsonism: A Practical Guide to Genes and Clinical Diagnosis.Movement disorders clinical practice · 2024Review
- Multifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders.Molecular neurobiology · 2024Review
- Hereditary Optic Neuropathies: A Systematic Review on the Interplay between Biomaterials and Induced Pluripotent Stem Cells.Bioengineering (Basel, Switzerland) · 2024Review
- Identification ofAmerican journal of ophthalmology case reports · 2023Article
- Novel compound heterozygous mutations in theHeliyon · 2023Article
- Next-Generation Sequencing Identifies NovelGenes · 2022Article
- An integrated proteomic and transcriptomic signature of the failing right ventricle in monocrotaline induced pulmonary arterial hypertension in male rats.Frontiers in physiology · 2022Article
- Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy.Molecular neurodegeneration · 2021Article
- Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.Frontiers in neurology · 2021Article
- ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.Annals of neurology · 2020Article
- A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy.Acta neuropathologica communications · 2020Article
- Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.Neurology. Genetics · 2020Article
- Expanding the clinical and genetic heterogeneity of SPAX5.Annals of clinical and translational neurology · 2020Article
- Cell Development Deficiency and Gene Expression Dysregulation of Trisomy 21 Retina Revealed by Single-Nucleus RNA Sequencing.Frontiers in bioengineering and biotechnology · 2020Article
- OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database.Orphanet journal of rare diseases · 2019Article
- Unique Structural Features of the Mitochondrial AAA+ Protease AFG3L2 Reveal the Molecular Basis for Activity in Health and Disease.Molecular cell · 2019Article
- A Missense Mutation inJournal of ophthalmology · 2019Article
- Upregulation of Peroxiredoxin 3 ProtectsOxidative medicine and cellular longevity · 2019Article
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dominant optic neuropathies causing fiber loss in the optic nerve are among the most frequent inherited mitochondrial diseases. In most genetically resolved cases, the disease is associated to a mutation in OPA1, which encodes an inner mitochondrial dynamin involved in network fusion, cristae structure and mitochondrial genome maintenance. OPA1 cleavage is regulated by two m-AAA proteases, SPG7 and AFG3L2, which are, respectively involved in Spastic Paraplegia 7 and Spino-Cerebellar Ataxia 28. Here, we identified a novel mutation c.1402C>T in AFG3L2, modifying the arginine 468 in cysteine in an evolutionary highly conserved arginine-finger motif, in a family with optic atrophy and mild intellectual disability. Ophthalmic examinations disclosed a loss of retinal nerve fibers on the temporal and nasal sides of the optic disk and a red-green dyschromatopsia. Thus, our results suggest that neuro-ophthalmological symptom as optic atrophy might be associated with AFG3L2 mutations, and should prompt the screening of this gene in patients with isolated and syndromic inherited optic neuropathies.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.