Gene Review:
SLC25A13 - solute carrier family 25...
Homo sapiens
Synonyms:
ARALAR2, CITRIN, CTLN2, Calcium-binding mitochondrial carrier protein Aralar2, Citrin, ...
Gao,
Yasuda,
Tazawa,
Sinasac,
Scherer,
Saheki,
Yamato,
Ushikai,
Nishi,
Saheki,
Koltunow,
Begum,
Saheki,
Saheki,
Ohura,
Boright,
Kobayashi,
Hidaka,
Jalil,
Iijima,
Fujimoto,
Kondo,
Kobayashi,
Aikawa,
Crackower,
Iinuma,
Pardo,
Satrústegui,
Sakamoto,
Robinson,
Terazono,
Lee,
Takaya,
Ohashi,
Yasuda,
Saheki,
Tsui,
Kobayashi,
Begum,
Li,
Abukawa,
Tabata,
Kobayashi,
Hirano,
Yamaguchi,
Iijima,
Ikeda,
Kobayashi,
Kobayashi,
Del Arco,
- Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice. Moriyama, M., Li, M.X., Kobayashi, K., Sinasac, D.S., Kannan, Y., Iijima, M., Horiuchi, M., Tsui, L.C., Tanaka, M., Nakamura, Y., Saheki, T. J. Hepatol. (2006)
- Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. Lu, Y.B., Kobayashi, K., Ushikai, M., Tabata, A., Iijima, M., Li, M.X., Lei, L., Kawabe, K., Taura, S., Yang, Y., Liu, T.T., Chiang, S.H., Hsiao, K.J., Lau, Y.L., Tsui, L.C., Lee, D.H., Saheki, T. J. Hum. Genet. (2005)
- Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations. Yamaguchi, N., Kobayashi, K., Yasuda, T., Nishi, I., Iijima, M., Nakagawa, M., Osame, M., Kondo, I., Saheki, T. Hum. Mutat. (2002)
- Living-related liver transplantation for type II citrullinemia using a graft from heterozygote donor. Kasahara, M., Ohwada, S., Takeichi, T., Kaneko, H., Tomomasa, T., Morikawa, A., Yonemura, K., Asonuma, K., Tanaka, K., Kobayashi, K., Saheki, T., Takeyoshi, I., Morishita, Y. Transplantation (2001)
- Infantile cholestatic jaundice associated with adult-onset type II citrullinemia. Tazawa, Y., Kobayashi, K., Ohura, T., Abukawa, D., Nishinomiya, F., Hosoda, Y., Yamashita, M., Nagata, I., Kono, Y., Yasuda, T., Yamaguchi, N., Saheki, T. J. Pediatr. (2001)
- Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease. Komatsu, M., Yazaki, M., Tanaka, N., Sano, K., Hashimoto, E., Takei, Y., Song, Y.Z., Tanaka, E., Kiyosawa, K., Saheki, T., Aoyama, T., Kobayashi, K. J. Hepatol. (2008)
- Mitochondrial transporters as novel targets for intracellular calcium signaling. Satrústegui, J., Pardo, B., Del Arco, A. Physiol. Rev. (2007)
- The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Kobayashi, K., Sinasac, D.S., Iijima, M., Boright, A.P., Begum, L., Lee, J.R., Yasuda, T., Ikeda, S., Hirano, R., Terazono, H., Crackower, M.A., Kondo, I., Tsui, L.C., Scherer, S.W., Saheki, T. Nat. Genet. (1999)
- Recombinant expression of the Ca(2+)-sensitive aspartate/glutamate carrier increases mitochondrial ATP production in agonist-stimulated Chinese hamster ovary cells. Lasorsa, F.M., Pinton, P., Palmieri, L., Fiermonte, G., Rizzuto, R., Palmieri, F. J. Biol. Chem. (2003)
- Polyembryony in Citrus. Accumulation of seed storage proteins in seeds and in embryos cultured in vitro. Koltunow, A.M., Hidaka, T., Robinson, S.P. Plant Physiol. (1996)
- Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency. Saheki, T., Kobayashi, K., Iijima, M., Nishi, I., Yasuda, T., Yamaguchi, N., Gao, H.Z., Jalil, M.A., Begum, L., Li, M.X. Metabolic brain disease. (2002)
- Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels: mutations in the SLC25A13 gene. Maruyama, H., Ogawa, M., Nishio, T., Kobayashi, K., Saheki, T., Sunohara, N. J. Neurol. Sci. (2001)
- Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria. Palmieri, L., Pardo, B., Lasorsa, F.M., del Arco, A., Kobayashi, K., Iijima, M., Runswick, M.J., Walker, J.E., Saheki, T., Satrústegui, J., Palmieri, F. EMBO J. (2001)
- A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency. Ohura, T., Kobayashi, K., Abukawa, D., Tazawa, Y., Aikawa, J., Sakamoto, O., Saheki, T., Iinuma, K. Eur. J. Pediatr. (2003)
- Risk of worsened encephalopathy after intravenous glycerol therapy in patients with adult-onset type II citrullinemia (CTLN2). Yazaki, M., Takei, Y., Kobayashi, K., Saheki, T., Ikeda, S. Intern. Med. (2005)
- Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). Saheki, T., Kobayashi, K. J. Hum. Genet. (2002)
- Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants. Yeh, J.N., Jeng, Y.M., Chen, H.L., Ni, Y.H., Hwu, W.L., Chang, M.H. J. Pediatr. (2006)
- Variant clinical courses of 2 patients with neonatal intrahepatic cholestasis who have a novel mutation of SLC25A13. Takaya, J., Kobayashi, K., Ohashi, A., Ushikai, M., Tabata, A., Fujimoto, S., Yamato, F., Saheki, T., Kobayashi, Y. Metab. Clin. Exp. (2005)
- Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier. Saheki, T., Kobayashi, K., Iijima, M., Moriyama, M., Yazaki, M., Takei, Y., Ikeda, S. Hepatol. Res. (2005)
- Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues. Del Arco, A., Agudo, M., Satrústegui, J. Biochem. J. (2000)
- Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiency. Tamamori, A., Fujimoto, A., Okano, Y., Kobayashi, K., Saheki, T., Tagami, Y., Takei, H., Shigematsu, Y., Hata, I., Ozaki, H., Tokuhara, D., Nishimura, Y., Yorifuji, T., Igarashi, N., Ohura, T., Shimizu, T., Inui, K., Sakai, N., Abukawa, D., Miyakawa, T., Matsumori, M., Ban, K., Kaneko, H., Yamano, T. Pediatr. Res. (2004)
- Novel diagnostic approach to citrin deficiency: Analysis of citrin protein in lymphocytes. Tokuhara, D., Iijima, M., Tamamori, A., Ohura, T., Takaya, J., Maisawa, S., Kobayashi, K., Saheki, T., Yamano, T., Okano, Y. Mol. Genet. Metab. (2007)
- Hepatocellular carcinoma in a case of adult-onset type II citrullinemia. Hagiwara, N., Sekijima, Y., Takei, Y., Ikeda, S., Kawasaki, S., Kobayashi, K., Saheki, T. Intern. Med. (2003)
- The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex. Roesch, K., Hynds, P.J., Varga, R., Tranebjaerg, L., Koehler, C.M. Hum. Mol. Genet. (2004)
- Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia. Yasuda, T., Yamaguchi, N., Kobayashi, K., Nishi, I., Horinouchi, H., Jalil, M.A., Li, M.X., Ushikai, M., Iijima, M., Kondo, I., Saheki, T. Hum. Genet. (2000)
- Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation. Tamamori, A., Okano, Y., Ozaki, H., Fujimoto, A., Kajiwara, M., Fukuda, K., Kobayashi, K., Saheki, T., Tagami, Y., Yamano, T. Eur. J. Pediatr. (2002)