Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L

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A facile cell culture device for studying nuclear and mitochondrial response of endothelial cells to hydrostatic pressure

Xu, K., Zhang, J., Ma, W., Huang, H., Yan, S., Wang, L., & Zhang, W. (2022) · Chinese Chemical Letters · doi:10.1016/j.cclet.2022.04.084 · Cited by 3 · see citing works

Lysosomes and Peroxisomes

Mierke, C. T. (2020) · Biological and medical physics, biomedical engineering · doi:10.1007/978-3-030-58532-7_9 · Cited by 3 · see citing works

A De Novo DNM1L Mutation in Twins with Variable Symptoms, Including Paraparesis and Optic Neuropathy

Nasca, A., Catania, A., Legati, A., Izzo, R., D’onofrio, C., Ciavattini, T., Lamantea, E., Lamperti, C., & Ghezzi, D. (2025) · Biomolecules · doi:10.3390/biom15091230 · Cited by 2 · see citing works

Peroxisomal Disorders

Shimozawa, N. (2019) · Springer eBooks · doi:10.1007/978-981-15-1169-1_5 · Cited by 2 · see citing works

Mitochondria Dynamics: Definition, Players and Associated Disorders

Soriano, M. E., Carro-Alvarellos, M., Rigoni, G., & Scorrano, L. (2021) · Springer eBooks · doi:10.1007/978-3-030-70147-5_5 · Cited by 1 · see citing works

Evaluating the association between DNM1L variants and Parkinson's disease in the Chinese population

Liu, J., Huang, J., Zhao, Y., Pan, H., Wang, Y., Liu, Z., Xu, Q., Sun, Q., Tan, J., Yan, X., et al. (2023) · Frontiers in Neurology · doi:10.3389/fneur.2023.1133449 · Cited by 1 · see citing works

Yeast Dnm1G178R causes altered organelle dynamics and sheds light on the human DRP1G149R disease mechanism

Adhikary, A., Joseph, V. F., Banerjee, R., & Nagotu, S. (2025) · Mitochondrion · doi:10.1016/j.mito.2025.102006 · Cited by 1 · see citing works

mtDNA maintenance: disease and therapy

Quadalti, C., & Garone, C. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-819656-4.00016-4

A Review on the Mechanisms of Mitochondrial Dynamics and the Relationship with Neurodegeneration

Zhu, Y. (2020) · International Symposium on Artificial Intelligence for Medicine Sciences (ISAIMS) · doi:10.1145/3429889.3429941

Faculty Opinions recommendation of Long-Term Potentiation Requires a Rapid Burst of Dendritic Mitochondrial Fission during Induction.

Sala, C. (2018) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.734207936.793553923

Functional identification of two variants in unrelated Chinese patients with DNM1L-related mitochondrial disorders

Zhang, Z., Chen, Z., Bie, X., Xie, Z., Li, X., Liu, J., Xiao, M., Zhang, Q., Zhang, Y., Yang, Y., et al. (2025) · BMC Pediatrics · doi:10.1186/s12887-025-06299-9

Additional file 1 of A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review

Zhang, Z., Bie, X., Chen, Z., Liu, J., Xie, Z., Li, X., Xiao, M., Zhang, Q., Zhang, Y., Yang, Y., et al. (2024) · Figshare · doi:10.6084/m9.figshare.25201923

Reversibility and therapeutic feasibility of DNM1L-associated neurodevelopmental disorders

So, K. H., Kim, S. H., Jang, S., Sang, H. D., Yun, E.-J., Choi, H., Chae, J., & Baek, S. T. (2026) · Experimental & Molecular Medicine · doi:10.1038/s12276-026-01660-z

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

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

A de novo gain-of-function variant of DNM1L causes developmental encephalopathy

Dong, S., Chen, Y., Yan, M., Huang, X., Deng, Q., Jianxiang, L., & Zhang, K. (2026) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2026.105106

G.O.6

Yoon, G., Malam, Z., Paton, T., Marshall, C. R., Hyatt, E., Ivakine, Z., Kemaladewi, D. U., Forge, C., Lee, K. S., Hawkins, C. E., et al. (2014) · Neuromuscular Disorders · doi:10.1016/j.nmd.2014.06.014 · Cited by 2 · see citing works

Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy

Nasca, A., Legati, A., Baruffini, E., Nolli, C., Moroni, I., Ardissone, A., Goffrini, P., & Ghezzi, D. (2016) · Human Mutation · doi:10.1002/humu.23033 · Cited by 77 · see citing works

De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting

Berti, B., Verrigni, D., Nasca, A., Nottia, M. D., Leone, D., Torraco, A., Rizza, T., Bellacchio, E., Legati, A., Palermo, C., et al. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25147782 · Cited by 8 · see citing works

Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function

Sheffer, R. N., Douiev, L., Edvardson, S., Shaag, A., Tamimi, K., Soiferman, D., Meiner, V., & Saada, A. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37624 · Cited by 100 · see citing works

A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy

Fahrner, J. A., Liu, R., Perry, M. S., Klein, J. L., & Chan, D. C. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37721 · Cited by 135 · see citing works