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ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice.
Aoto K, Kato M, Akita T, Nakashima M, Mutoh H, Akasaka N, Tohyama J, Nomura Y, Hoshino K, Ago Y, Tanaka R, Epstein O, Ben-Haim R, Heyman E, Miyazaki T, Belal H, Takabayashi S, Ohba C, Takata A, Mizuguchi T, Miyatake S, Miyake N, Fukuda A, Matsumoto N, Saitsu H. Aoto K, et al. Nat Commun. 2021 Apr 8;12(1):2107. doi: 10.1038/s41467-021-22389-5. Nat Commun. 2021. PMID: 33833240 Free PMC article.
Cnpy32xHA mice reveal neuronal expression of Cnpy3 in the brain.
Islam MM, Mutoh H, Aoto K, Belal H, Saitsu H. Islam MM, et al. Among authors: aoto k. J Neurosci Methods. 2023 Jan 1;383:109730. doi: 10.1016/j.jneumeth.2022.109730. Epub 2022 Oct 21. J Neurosci Methods. 2023. PMID: 36280087
Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy.
Mutoh H, Kato M, Akita T, Shibata T, Wakamoto H, Ikeda H, Kitaura H, Aoto K, Nakashima M, Wang T, Ohba C, Miyatake S, Miyake N, Kakita A, Miyake K, Fukuda A, Matsumoto N, Saitsu H. Mutoh H, et al. Among authors: aoto k. Am J Hum Genet. 2018 Feb 1;102(2):321-329. doi: 10.1016/j.ajhg.2018.01.004. Epub 2018 Jan 27. Am J Hum Genet. 2018. PMID: 29394991 Free PMC article.
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.
Nakashima M, Kato M, Aoto K, Shiina M, Belal H, Mukaida S, Kumada S, Sato A, Zerem A, Lerman-Sagie T, Lev D, Leong HY, Tsurusaki Y, Mizuguchi T, Miyatake S, Miyake N, Ogata K, Saitsu H, Matsumoto N. Nakashima M, et al. Among authors: aoto k. Ann Neurol. 2018 Apr;83(4):794-806. doi: 10.1002/ana.25208. Ann Neurol. 2018. PMID: 29534297
68 results