Melchionda L et al. Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. Am J Hum Genet. 2014;95(3):315-25. PMID: 25175347.
Sharma S et al. Cavitating Leukoencephalopathy with Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy. J Child Neurol. 2018;33(6):428-431. PMID: 29577824.
Signes A et al. APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS. EMBO Mol Med. 2019;11(1). PMID: 30552096.