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Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation.
Miyake N, Yano S, Sakai C, Hatakeyama H, Matsushima Y, Shiina M, Watanabe Y, Bartley J, Abdenur JE, Wang RY, Chang R, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Ogata K, Goto Y, Matsumoto N. Miyake N, et al. Among authors: sakai c. Hum Mutat. 2013 Mar;34(3):446-52. doi: 10.1002/humu.22257. Epub 2013 Jan 29. Hum Mutat. 2013. PMID: 23281071
A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).
Shimazaki H, Takiyama Y, Ishiura H, Sakai C, Matsushima Y, Hatakeyama H, Honda J, Sakoe K, Naoi T, Namekawa M, Fukuda Y, Takahashi Y, Goto J, Tsuji S, Goto Y, Nakano I; Japan Spastic Paraplegia Research Consortium (JASPAC). Shimazaki H, et al. Among authors: sakai c. J Med Genet. 2012 Dec;49(12):777-84. doi: 10.1136/jmedgenet-2012-101212. J Med Genet. 2012. PMID: 23188110
IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy.
Ishiyama A, Sakai C, Matsushima Y, Noguchi S, Mitsuhashi S, Endo Y, Hayashi YK, Saito Y, Nakagawa E, Komaki H, Sugai K, Sasaki M, Sato N, Nonaka I, Goto YI, Nishino I. Ishiyama A, et al. Among authors: sakai c. Neurol Genet. 2017 Sep 8;3(5):e184. doi: 10.1212/NXG.0000000000000184. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28913435 Free PMC article.
An Oncogenic Alteration Creates a Microenvironment that Promotes Tumor Progression by Conferring a Metabolic Advantage to Regulatory T Cells.
Kumagai S, Togashi Y, Sakai C, Kawazoe A, Kawazu M, Ueno T, Sato E, Kuwata T, Kinoshita T, Yamamoto M, Nomura S, Tsukamoto T, Mano H, Shitara K, Nishikawa H. Kumagai S, et al. Among authors: sakai c. Immunity. 2020 Jul 14;53(1):187-203.e8. doi: 10.1016/j.immuni.2020.06.016. Epub 2020 Jul 7. Immunity. 2020. PMID: 32640259 Free article.
379 results