1. Rimoldi, Martina, Magri, Francesca, Antognozzi, Sara, Comi, Giacomo Pietro, Ronchi, Dario. 2023. Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant. In Frontiers in genetics, 14, 1278572. doi:10.3389/fgene.2023.1278572. https://pubmed.ncbi.nlm.nih.gov/38098475/
2. Chapleau, Alexandra, Boucher, Renée-Myriam, Pastinen, Tomi, Gould, Peter V, Bernard, Geneviève. 2023. Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome c oxidase deficiency: a case report. In Frontiers in cellular neuroscience, 17, 1216487. doi:10.3389/fncel.2023.1216487. https://pubmed.ncbi.nlm.nih.gov/37601282/
3. Brischigliaro, Michele, Corrà, Samantha, Tregnago, Claudia, Costa, Rodolfo, De Pittà, Cristiano. 2019. Knockdown of APOPT1/COA8 Causes Cytochrome c Oxidase Deficiency, Neuromuscular Impairment, and Reduced Resistance to Oxidative Stress in Drosophila melanogaster. In Frontiers in physiology, 10, 1143. doi:10.3389/fphys.2019.01143. https://pubmed.ncbi.nlm.nih.gov/31555154/
4. Oraki Kohshour, Mojtaba, Schulte, Eva C, Heilbronner, Urs, Papiol, Sergi, Schulze, Thomas G. 2023. Association between mitochondria-related genes and cognitive performance in the PsyCourse Study. In Journal of affective disorders, 325, 1-6. doi:10.1016/j.jad.2023.01.013. https://pubmed.ncbi.nlm.nih.gov/36621676/
5. Hedberg-Oldfors, Carola, Darin, Niklas, Thomsen, Christer, Lindberg, Christopher, Oldfors, Anders. 2020. COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation. In Neurology. Genetics, 6, e464. doi:10.1212/NXG.0000000000000464. https://pubmed.ncbi.nlm.nih.gov/32637636/
6. Signes, Alba, Cerutti, Raffaele, Dickson, Anna S, Fernandez-Vizarra, Erika, Zeviani, Massimo. . APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS. In EMBO molecular medicine, 11, . doi:10.15252/emmm.201809582. https://pubmed.ncbi.nlm.nih.gov/30552096/
7. Sharma, Suvasini, Singh, Preeti, Fernandez-Vizarra, Erika, Van der Knaap, Marjo S, Saran, Ravindra Kumar. 2018. Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy. In Journal of child neurology, 33, 428-431. doi:10.1177/0883073818760875. https://pubmed.ncbi.nlm.nih.gov/29577824/
8. Cornejo-Sanchez, Diana M, Bharadwaj, Thashi, Dong, Rui, DeWan, Andrew T, Leal, Suzanne M. 2025. Mendelian non-syndromic and syndromic hearing loss genes contribute to presbycusis. In European journal of human genetics : EJHG, , . doi:10.1038/s41431-025-01789-x. https://pubmed.ncbi.nlm.nih.gov/40055553/
智鼠故事 
