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Pivotal role of inter-organ aspartate metabolism for treatment of mitochondrial aspartate-glutamate carrier 2 (citrin) deficiency, based on the mouse model.
Saheki T, Moriyama M, Kuroda E, Funahashi A, Yasuda I, Setogawa Y, Gao Q, Ushikai M, Furuie S, Yamamura KI, Takano K, Nakamura Y, Eto K, Kadowaki T, Sinasac DS, Furukawa T, Horiuchi M, Tai YH. Saheki T, et al. Among authors: moriyama m. Sci Rep. 2019 Mar 12;9(1):4179. doi: 10.1038/s41598-019-39627-y. Sci Rep. 2019. PMID: 30862943 Free PMC article.
Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle.
Saheki T, Kobayashi K, Iijima M, Horiuchi M, Begum L, Jalil MA, Li MX, Lu YB, Ushikai M, Tabata A, Moriyama M, Hsiao KJ, Yang Y. Saheki T, et al. Among authors: moriyama m. Mol Genet Metab. 2004 Apr;81 Suppl 1:S20-6. doi: 10.1016/j.ymgme.2004.01.006. Mol Genet Metab. 2004. PMID: 15050970 Review.
Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency.
Saheki T, Iijima M, Li MX, Kobayashi K, Horiuchi M, Ushikai M, Okumura F, Meng XJ, Inoue I, Tajima A, Moriyama M, Eto K, Kadowaki T, Sinasac DS, Tsui LC, Tsuji M, Okano A, Kobayashi T. Saheki T, et al. Among authors: moriyama m. J Biol Chem. 2007 Aug 24;282(34):25041-52. doi: 10.1074/jbc.M702031200. Epub 2007 Jun 25. J Biol Chem. 2007. PMID: 17591776 Free article.
1,401 results