Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function

Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development

Chen, H., Detmer, S. A., Ewald, A. J., Griffin, E. E., Fraser, S. E., & Chan, D. C. (2003) · The Journal of Cell Biology · doi:10.1083/jcb.200211046 · Cited by 2,601

OPA1 Controls Apoptotic Cristae Remodeling Independently from Mitochondrial Fusion

Frezza, C., Cipolat, S., Martins de Brito, O., Micaroni, M., Beznoussenko, G. V., Rudka, T., Bartoli, D., Polishuck, R. S., Danial, N. N., De Strooper, B., et al. (2006) · Cell · doi:10.1016/j.cell.2006.06.025 · Cited by 1,673

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

Delettre, C., Lenaers, G., Griffoin, J.-M., Gigarel, N., Lorenzo, C., Belenguer, P., Pelloquin, L., Grosgeorge, J., Turc-Carel, C., Perret, E., et al. (2000) · Nature Genetics · doi:10.1038/79936 · Cited by 1,446

Disruption of Fusion Results in Mitochondrial Heterogeneity and Dysfunction

Chen, H., Chomyn, A., & Chan, D. C. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m503062200 · Cited by 1,376 · cited 1×

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

Alexander, C., Votruba, M., Pesch, U. E. A., Thiselton, D. L., Mayer, S., Moore, A., Rodriguez, M., Kellner, U., Leo-Kottler, B., Auburger, G., et al. (2000) · Nature Genetics · doi:10.1038/79944 · Cited by 1,330

OPA1 requires mitofusin 1 to promote mitochondrial fusion

Cipolat, S., de Brito, O. M., Dal Zilio, B., & Scorrano, L. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0407043101 · Cited by 1,300

Loss of OPA1 Perturbates the Mitochondrial Inner Membrane Structure and Integrity, Leading to Cytochrome c Release and Apoptosis

Olichon, A., Baricault, L., Gas, N., Guillou, E., Valette, A., Belenguer, P., & Lenaers, G. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.c200677200 · Cited by 1,168

Roles of the mammalian mitochondrial fission and fusion mediators Fis1, Drp1, and Opa1 in apoptosis

Lee, Y.-J., Jeong, S.-Y., Karbowski, M., Smith, C. L., & Youle, R. J. (2004) · Molecular Biology of the Cell · doi:10.1091/mbc.e04-04-0294 · Cited by 1,042

Regulation of mitochondrial morphology through proteolytic cleavage of OPA1

Ishihara, N., Fujita, Y., Oka, T., & Mihara, K. (2006) · The EMBO Journal · doi:10.1038/sj.emboj.7601184 · Cited by 899

Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment

Rogers, D. C., Fisher, E. M. C., Brown, S. D. M., Peters, J., Hunter, A. J., & Martin, J. E. (1997) · Mammalian Genome · doi:10.1007/s003359900551 · Cited by 795

THE PROSURVIVAL ACTIVITIES OF APOPTOSIS-INDUCING FACTOR CONVERGE UPON THE REGULATION OF MITOCHONDRIAL METABOLISM, A NOVEL CELL DEATH PATHWAY, AND THE PROGRESSION OF PROSTATE CANCER

Lenhausen, A. M. (2013) · WakeSpace Scholarship (Wake Forest University)

Neuropathological characterization of FL-PGC-1α-deficient mice – implications for mitochondrial encephalopathy

Szalárdy, L. (2016) · SZTE Repository of Dissertations (University of Szeged) · doi:10.14232/phd.3120 · Cited by 1

Defective Dynamics Of Mitochondria In Amyotrophic Lateral Sclerosis And Huntington's Disease

Song, W. (2012) · Journal of International Crisis and Risk Communication Research

Visual function in human and experimental glaucoma

Vasalauskaite, A. (2016) · ORCA Online Research @Cardiff (Cardiff University)

Molecular and genetic basis of inherited optic neuropathies

Flannery, P. J. (2016)

Natural and Synthetic GHSR1a Agonists as Neuroprotective Agents in Models of Parkinson's disease

Rees, D. J. (2017) · Cronfa (Swansea University) · doi:10.23889/suthesis.40946

Revealing a Non-canonical Role of Anti-apoptotic MCL-1 in Early Embryonic Development

Yang, X. (2017) · doi:10.21007/etd.cghs.2017.0443

On the Regulation of Mitochondrial Fusion, Fission and Mitochondrial DNA

Sabouny, R. (2020) · doi:10.11575/prism/37680

Neurological Diseases and Mitochondrial Genes

Deepti, A., & Baby Chakrapani, P. S. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-821974-4.00009-1

Regulation of mitochondrial dynamics: convergences and divergences between yeast and vertebrates

Nister, J. Z. L. (2013)

Leveraging large scale beef cattle genomic data to identify the architecture of polygenic selection and local adaptation

Rowan, T. N. (2020) · MOspace Institutional Repository (University of Missouri) · doi:10.32469/10355/81564

Mitochondrial Dynamics and Stress Signaling in Cancer

Rubio‐Patiño, C., & Chipuk, J. E. (2021) · Oxford University Press eBooks · doi:10.1093/oxfordhb/9780190932183.013.19

Model Cells and Organisms in Mitochondrial Diseases

Stefanatos, R. K. A., Sanz, A., & Fernández‐Ayala, D. J. M. (2021) · Springer eBooks · doi:10.1007/978-3-030-70147-5_10

Later-life Effects of Mitochondrial DNA Damage During Development in the Whole Organism Model Caenorhabditis elegans

Leung, M. C. K. (2012) · DukeSpace (Duke University)

Hereditary Optic Neuropathies

Wang, M. Y., Sadun, A. A., & Chan, J. W. (2014) · Springer eBooks · doi:10.1007/978-1-4614-0691-4_7

Current World Literature

(2007) · Current Opinion in Neurology · doi:10.1097/wco.0b013e3282efeb3b

Mechanisms of regulation of mitochondria-endoplasmic reticulum contact sites

Couto, R. (2019) · eDiss (Georg-August-Universität Göttingen) · doi:10.53846/goediss-7742

Mechanisms and Functions of Mitochondrial Dynamics

Mihara, K., & Otera, H. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-821618-7.20024-2

Drosophila model to clarify the pathological significance of OPA1 in autosomal dominant optic atrophyPreprint

Nitta, Y., Osaka, J., Maki, R., Hakeda‐Suzuki, S., Suzuki, E., Ueki, S., Suzuki, T., & Sugie, A. (2023) · eLife · doi:10.7554/elife.87880.1

Mitochondria in Early Forebrain Development

Fame, R. M., & Lehtinin, M. K. (2023) · Oxford University Press eBooks · doi:10.1093/oxfordhb/9780190932183.013.7

Drosophila model to clarify the pathological significance of OPA1 in autosomal dominant optic atrophyPreprint

Nitta, Y., Osaka, J., Maki, R., Hakeda‐Suzuki, S., Suzuki, E., Ueki, S., Suzuki, T., & Sugie, A. (2024) · eLife · doi:10.7554/elife.87880.2

Reviewer #3 (Public Review): Drosophila model to clarify the pathological significance of OPA1 in autosomal dominant optic atrophy

(2024) · eLife · doi:10.7554/elife.87880.2.sa1

Author response: Drosophila model to clarify the pathological significance of OPA1 in autosomal dominant optic atrophy

Nitta, Y., Osaka, J., Maki, R., Hakeda‐Suzuki, S., Suzuki, E., Ueki, S., Suzuki, T., & Sugie, A. (2024) · eLife · doi:10.7554/elife.87880.2.sa0

eLife Assessment: Drosophila model to clarify the pathological significance of OPA1 in autosomal dominant optic atrophy

Smith, L. E. H. (2024) · eLife · doi:10.7554/elife.87880.2.sa2

Derivation and Characterization of Isogenic OPA1 Mutant and Control Human Pluripotent Stem Cell Lines

Pohl, K. A., Zhang, X., Ji, J., Stiles, L., Sadun, A. A., & Yang, X.-J. (2025) · Cells · doi:10.3390/cells14020137

Hereditary Optic Neuropathies

Shah, V. S., Coussa, R. G., & Traboulsi, E. I. (2025) · Oxford University Press eBooks · doi:10.1093/med/9780197659403.003.0043

Non-coding exon splicing orchestrates tissue-specific expression of two functionally distinct mitochondrial isoforms of Mitofusin 2Preprint

David, C., Barsa, C., Evain, C., Krüger, A., Papin, M., BERNADET, R., DURANTHON, G., Molinié, T., Cougouilles, E., Dompierre, J., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.09.26.678759

Clinical and Genetic Findings in an Autosomal Dominant Optic Atrophy-Compatible Phenotype Harboring an OPA1 Variant: A Case Report

Calderon, R. A. M., Landestoy, G., & Izquierdo, N. (2025) · Cureus · doi:10.7759/cureus.95622

Neuronal mitochondrial dynamics: roles in brain disorders and therapeutic potential

Zhang, X., Du, J., Wang, S.-Z., Mo, X., & Zhang, X. (2026) · Acta Pharmacologica Sinica · doi:10.1038/s41401-025-01746-w · Cited by 3

Rôle de la cytoarchitecture dans la signalisation énergétique du cœur de souris

Piquereau, J. (2011) · theses.fr (ABES) · doi:10.70675/86a62567z22c7z41d7zb42cza0f52198baaa

Fusion Mitochondriale et Effets Vasculaires : rôle de OPA 1 dans l'hypertension artérielle et le vieillissement

Nguyen, P. M. C. (2015) · theses.fr (ABES) · doi:10.70675/f5d28b69zead0z45d6z8d1cz92ab36aab66c

Mitochondria, neurosteroids and biological rhythms : implications in health and disease states

Grimm, A. (2015) · theses.fr (ABES) · doi:10.70675/8aac5aa9z77cdz49bdz9cf5z0ff0b5dd0f84

Approche métabolomique des maladies dégénératives de la rétine et du nerf optique. : neuropathie optique héréditaire de Leber, athropie optique dominante et préconditionnement rétinien induit par la lumière

de la Barca, J. M. C. (2016) · theses.fr (ABES) · doi:10.70675/9cc91f79zfd2ez4540z8495z3ee36c707f6c

Étude des liens entre les acteurs de la dynamique mitochondriale et l'apoptose dans la dégénérescence musculaire dystrophinedépendante chez Caenorhabditis elegans

Scholtes, C. (2018) · theses.fr (ABES) · doi:10.70675/b1d429a3z14ebz4af9zaf96zb280790106d4

The role of PKD in mitochondrial fission during mitosis

Bielska, O. (2018) · theses.fr (ABES) · doi:10.70675/2dbab59fze200z4e37z9770zea1c8f1345ea

Rôle de la dynamique mitochondriale à la phase aiguͭe de l'infarctus du myocarde

Cellier, L. (2017) · theses.fr (ABES) · doi:10.70675/5453e14cz1debz499cza93cz316d9cc9d155

Implication des protéines BNIP3 et OPA1 dans la balance entre survie par autophagie-mitophagie et mort par apoptose dans les neurones

Moulis, M. (2016) · theses.fr (ABES) · doi:10.70675/ab3399b3za71dz4ee4zb7f2z2ca0cd5f813d

Caractérisation d'allèles de mitofusine associés à la maladie de Charcot-Marie-Tooth : mise en évidence de l'implication d'un déséquilibre entre fusion et fission mitochondriale dans le dysfonctionnement des neurones

Fissi, N. E. (2017) · theses.fr (ABES) · doi:10.70675/c83cba05z877bz4314z9573zbdf64fa8a1cc

Adult neurogenesis and mitochondria play a role in hippocampal plasticity in mouse models of neurodegenerative diseases

Andraini, T. (2017) · theses.fr (ABES) · doi:10.70675/d69ee7bfzfd43z49e8zac71z9d99bf4e07c2

High-throughput mitochondrial morphology screen identifies PGS1 as a functional suppressor of mitochondrial fragmentation in patient-derived OPA1 mutant fibroblasts

Cretin, E. (2021) · theses.fr (ABES) · doi:10.70675/5eaca89az9b6az4b80z9614z08ea32bd2ac6

Etude des fonctions des Sidéroflexines, une nouvelle famille de protéines mitochondriales

Tifoun, N. (2021) · theses.fr (ABES) · doi:10.70675/19d943dcz4ccfz40b3z8e0ez5530fe24e55f

Proof of principle of therapies for dominant optic atrophy type1

Gurram, V. (2020) · theses.fr (ABES) · doi:10.70675/8e22a535zaa4az436bz9cf4z11d1971241f5

Golgi-derived vesicles containing PI(3,4)P 2 drive mitochondrial fusion

Aki, S., Segawa, M., Anton, V., Chowdhury, S. R., Nagashima, S., Shiiba, I., Wolf, D. M., Koyama‐Honda, I., Sugiura, A., Ganellin, J., et al. (2026) · Science · doi:10.1126/science.adx9628 · Cited by 1

Evidence for the Drp1-dependent Mitochondrial Fission in the Axon of the Rat Cerebral Cortex Neurons

Cho, B. K., Lee, S., Sun, W., & Kim, Y. (2011) · Han-guk hyeonmigyeong hakoeji/Applied microscopy

Neurological Diseases Associated with Mutations in the Mitochondrial Fusion Machinery

Lenaers, G., Bonneau, D., Delettre, C., Amati‐Bonneau, P., Sarzi, E., Miléa, D., Verny, C., Procaccio, V., Hamel, C., & Reynier, P. (2011) · Springer eBooks · doi:10.1007/978-94-007-1291-1_6

Modelling Hereditary Spastic Paraplegias using Human Pluripotent Stem Cells

Denton, K. R. (2015) · OpenCommons - UConn (University of Connecticut)

Characterisation of a novel model of optic atrophy

Piechota, M. J. (2009) · ORCA Online Research @Cardiff (Cardiff University)

No retinal apoptosis in mouse model of Opa1 dominant optic atrophy despite visual loss

Votruba, M., Piechota, M. J., Taylor, E., Powell, K. A., & Davies, V. (2010) · Acta Ophthalmologica · doi:10.1111/j.1755-3768.2010.2445.x

A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy

Alavi, M. V., Bette, S. J., Schimpf, S., Schuettauf, F., Schraermeyer, U., Wehrl, H. F., Rüttiger, L., Beck, S. C., Tonagel, F., Pichler, B. J., et al. (2006) · Brain · doi:10.1093/brain/awm005 · Cited by 278

A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function

Spinazzi, M., Cazzola, S., Bortolozzi, M., Baracca, A., Loro, E., Casarin, A., Solaini, G., Sgarbi, G., Casalena, G., Cenacchi, G., et al. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn225 · Cited by 107

Dominant optic atrophy: Culprit mitochondria in the optic nerve

Lenaers, G., Neutzner, A., Dantec, Y. L., Jüschke, C., Xiao, T., Decembrini, S., Swirski, S., Kieninger, S., Ağca, C., Kim, U. S., et al. (2020) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2020.100935 · Cited by 113