1. Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy
   Majida Charif et al, 2020, Neurology Genetics CrossRef
2. Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy
   Majida Charif et al, 2021, Molecular Neurodegeneration CrossRef
3. Mitochondrial Parkinsonism: A Practical Guide to Genes and Clinical Diagnosis
   Piervito Lopriore et al, 2024, Movement Disorders Clinical Practice CrossRef
4. Optic Atrophy
   Suzie Kim et al, 2025, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics CrossRef
5. ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
   Leonardo Caporali et al, 2020, Annals of Neurology CrossRef
6. Upregulation of Peroxiredoxin 3 Protects Afg3l2-KO Cortical Neurons In Vitro from Oxidative Stress: A Paradigm for Neuronal Cell Survival under Neurodegenerative Conditions
   Barbara Bettegazzi et al, 2019, Oxidative Medicine and Cellular Longevity CrossRef
7. Multifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders
   Ranita Ghosh Dastidar et al, 2024, Molecular Neurobiology CrossRef
8. Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity
   Cecilia Mancini et al, 2019, Neurobiology of Disease CrossRef
9. A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy
   Valentina Baderna et al, 2020, Acta Neuropathologica Communications CrossRef
10. Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation
    Stefania Magri et al, 2018, Human Mutation CrossRef
11. The Role of Mitochondria in Optic Atrophy With Autosomal Inheritance
    Elin L. Strachan et al, 2021, Frontiers in Neuroscience CrossRef
12. Other Hereditary Optic Neuropathy
    Guohong Tian et al, 2022, Neuro-Ophthalmology CrossRef
13. A novel mutation located in the intermembrane space domain of AFG3L2 causes dominant optic atrophy through decreasing the stability of the encoded protein
    Lin Yang et al, 2022, Cell Death Discovery CrossRef
14. AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype–Phenotype Characterization Compared to OPA1 Patients
    Giulia Amore et al, 2024, American Journal of Ophthalmology CrossRef
15. Unique Structural Features of the Mitochondrial AAA+ Protease AFG3L2 Reveal the Molecular Basis for Activity in Health and Disease
    Cristina Puchades et al, 2019, Molecular Cell CrossRef
16. Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing
    Michael C. Brodsky et al, 2023, American Journal of Ophthalmology Case Reports CrossRef
17. Mitochondrial Optic Neuropathies
    Valerio Carelli et al, 2019, Diagnosis and Management of Mitochondrial Disorders CrossRef
18. Compound heterozygous mutation of AFG3L2 causes autosomal recessive spinocerebellar ataxia through mitochondrial impairment and MICU1 mediated Ca2+ overload
    Hongyu Li et al, 2024, Science China Life Sciences CrossRef
19. Dominant optic atrophy: Culprit mitochondria in the optic nerve
    Guy Lenaers et al, 2021, Progress in Retinal and Eye Research CrossRef
20. Gene Therapy to the Retina and the Cochlea
    Ryan Crane et al, 2021, Frontiers in Neuroscience CrossRef
21. Dissecting Substrate Specificities of the Mitochondrial AFG3L2 Protease
    Bojian Ding et al, 2018, Biochemistry CrossRef