Kamino M, Kishida M, Kibe T, Ikoma K, Iijima M, Hirano H, Tokudome M, Chen L, Koriyama C, Yamada K, Arita K, Kishida S .  Wnt-5a signaling is correlated with infiltrative activity in human glioma by inducing cellular migration and MMP-2 .  Cancer Sci.102 ( 3 ) 540 - 548   2011年3月査読

Hutchin T, Preece MA, Hendriksz C, Chakrapani A, McClelland V, Okumura F, Song YZ, Iijima M, Kobayashi K, Saheki T, McKiernan P, Baumann U. .  Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK. .  J Inherit Metab Dis   2009年6月査読

Hirai I, Kimura W, Suto K, Fzjimoto H, Watanabe T, Fuse A, Kobayashi K, Iijima M, Saheki T, Nakatsuka T, Sugawara Y, Makuuchi M. .  Living donor liver transplantation for type II citrullinemia from a heterozygous donor. .  Hepatogastroenterology55 ( 88 ) 2211 - 2216   2008年11月査読

Soeda J, Yazaki M, Nakata T, Miwa S, Ikeda S, Hosoda W, Iijima M, Kobayashi K, Saheki T, Kojiro M, Miyagawa S .  Primary liver carcinoma exhibiting dual hepatocellular-biliary epithelial differentiations associated with citrin deficiency: a case report. .  J Clin Gastroenterol.42   855 - 860   2008年8月査読

Tabata A, Sheng JS, Ushikai M, Song YZ, Gao HZ, Lu YB, Okumura F, Iijima M, Mutoh K, Kishida S, Saheki T, Kobayashi K. .  Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency. .  J Hum Genet.53 ( 6 ) 534 - 545   2008年4月査読

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 .  Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency .  J Biol Chem282   25041 - 25052   2007年8月査読

Song YZ, Ushikai M, Sheng JS, Iijima M, Kobayashi K .  SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency .  Zhonghua Er Ke Za Zhi45   408 - 412   2007年6月査読

Dimmock D, Kobayashi K, Iijima M, Tabata A, Wong LJ, Saheki T, Lee B, Scaglia F .  Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet .  Pediatrics119   e773 - e777   2007年3月査読

Contreras L, Gomez-Peurtas P, Iijima M, Kobayashi K, Saheki T, Satrustegui J .  Ca2+ activation kinetics of the two aspartate-glutamate mitochondrial carriers aralar and citrin: Role in heart malate-aspartate NADH shuttle .  J Biol Chem282   7098 - 7106   2007年3月査読

Moriyama M, Li MX, Kobayashi K, Sinasac DS, Kannan Y, Iijima M, Tsui LC, Tanaka M, Nakamura Y, Saheki T .  Pyruvate ameliorates the defect in urogenesis from ammonia in citrin-deficient mice. .  J Hepatol44   930 - 938   2006年5月査読

Yoshida G, Li MX, Horiuchi M, Nakagawa S, Sakata M, Kuchiiwa S, Kuchiiwa T, Jalil MA, Begum L, Lu YB, Iijima M, Hanada T, Nakazato M, Huang ZL, Eguchi N, Kobayashi K, Saheki T .  Fasting-induced reduction in locomotor activity and reduced response of orexin neurons in carnitine-deficient mice. .  Neurosci Res55   78 - 86   2006年5月査読

Pardo B, Contreras L, Serrano A, Ramos M, Kobayashi K, Iijima M, Saheki T, Satr〓stegui J .  Essential role of aralar in the transduction of small Ca2+ signals to neuronal mitochondria. .  J Biol Chem281   1039 - 1047   2006年査読

小林圭子、飯島幹雄, 牛飼美晴、池田さやか、佐伯武頼 .  シトリン欠損症 .  日本小児科学会雑誌110   1047 - 1059   2006年

Tokuhara D, Iijima M, Tamamori A, Ohura T, Takaya J, Maisawa S, Kobayashi K, Saheki T, Yamano T, Okano Y .  Novel diagnostic approach to citrin deficiency: Analysis of citrin protein in lymphocytes. .  Mol Genet Metab90   30 - 36   2006年査読

Saheki T, Kobayashi K, Iijima M, Horiuchi M, Begum L, Jalil MA, Li MX, Lu YB, Ushikai M, Tabata A, Moriyama M, Hsiao K-J, Yang Y .  Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate–glutamate carrier .  Hepatol Res.33 ( 2 ) 181 - 184   2005年10月査読

Jalil MA, Begum L, Contreras L, Pardo B, Iijima M, Li MX, Ramos M, Marmol P, Horiuchi M, Shimotsu K, Nakagawa S, Okubo A, Sameshima M, Isashiki Y, Del Arco A, Kobayashi K, Satrustegui J, Saheki T .  Reduced N-acetylaspartate levels in mice lacking aralar, a brain- and muscle-type mitochondrial aspartate-glutamate carrier. .  J Biol Chem280   31333 - 31339   2005年査読

李 孟賢, 小林圭子, 堀内正久, 飯島幹雄, 佐伯武頼 .  高アンモニア血症関連疾患モデル動物の病態解析と治療法の開発 (日本先天代謝異常学会奨励賞受賞論文). .  日本先天代謝異常学会雑誌,21   37 - 42   2005年

Saheki T, Kobayashi K, Iijima M, Moriyama M, Yazaki M, Takei Y, Ikeda S .  Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier. .  Hepatol Res33   181 - 183   2005年査読

Lu YB, Kobayashi K, Ushikai M, Tabata A, Iijima M, Li MX, Lei L, Kawabe K, Taura S, Yang Y, Liu TT, Chiang SH, Hsiao KJ, Lau YL, Tsui LC, Lee DH, Saheki T .  Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. .  J Hum Genet50   338 - 346   2005年査読

佐伯武賴,小林圭子,飯島幹雄(IIJIMAMikio),堀内正久(HoriuchiMasahisa),Laila Begum,Md. Abdul Jalil,Meng Xian Li,Yao Bang Lu,牛飼美晴,田畑文子,森山光章,Kwang-Jen Hsiao,Yanling Yang .  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 .  Molecular Genetics and Metabolism81 ( Supplement 1 ) S20 - S26   2004年4月査読

Sinasac DS, Moriyama M, Jalil MA, Begum L, Li MX, Iijima M, Horiuchi M, Robinson BH, Kobayashi K, Saheki T, Tsui LC .  Slc25a13-Knockout Mice Harbor Metabolic Deficits but Fail To Display Hallmarks of Adult-Onset Type II Citrullinemia .  Mol Cell Biol.24 ( 2 ) 527 - 536   2004年1月査読

Ruitenbeek W, Kobayashi K, Iijima M, Smeitink JAM, Engelke UFH, Abreu RAD, Kwast HT, Saheki T, Boelen CA, Jong JGND, Wevers RA .  Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase. .  Ann Clin Biochem40   102 - 107   2003年査読

Gao HZ, Kobayashi K, Tabata A, Tsuge H, Iijima M, Yasuda T, Kalkanoglu HS, Dursun A, Tokatli A, Coskun T, Trefz FK, Skladal D, Mandel H, Seidel J, Kodama S, Shirane S, Ichida T, Makino S, Yoshino M, Kang JH, Mizuguchi M, Barshop BA, Fuchinoue S, Seneca S, .  Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients. .  Hum Mutat22   24 - 34   2003年査読

Saheki T, Kobayashi K, Iijima M, Nishi I, Yasuda T, Yamaguchi N, Gao HZ, Jalil MA, Begum L, Li MX .  Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency. .  Metab Brain Dis17   335 - 346   2002年査読

Mori T, Nagai K, Mori M, Nagao M, Imamura M, Iijima M, Kobayashi K .  Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency. .  Pediatr Dev Pathol5   597 - 601   2002年査読

Begum L, Jalil MA, Kobayashi K, Iijima M, Li MX, Yasuda T, Horiuchi M, del Arco A, Satr〓stegui J and Saheki T .  Expression of three mitochondrial solute carriers, citrin, aralar1 and ornithine transporter, in relation to urea cycle in mice. .  Biochim Biophys Acta1574   283 - 292   2002年査読

Yamaguchi N, Kobayashi K, Yasuda T, Nishi I, Iijima M, Nakagawa M, Osame M, Kondo I and Saheki T .  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. .  Hum Mutat19   122 - 130   2002年査読

Fukumaru S, Horiuchi M, Kobayashi K, Jalil MA, Iijima M, Masuda M, Begum L, Higashi M, Wakana S, Kanzaki T, Saheki T .  Novel mRNA molecules are induced in hypertrophied ventricles of carnitine-deficient mice and belong to a family of up-regulated gene in cells overexpressing c-erbB-2. .  Biochim Biophys Acta1577   437 - 444   2002年査読

Iijima M, Jalil MA, Begum L, Yasuda T, Yamaguchi N, Li MX, Kawada N, Endou H, Kobayashi K and Saheki T .  Pathogenesis of adult-onset type II citrullinemia caused by deficiency of citrin, a mitochondrial solute carrier protein: tissue and subcellular localization of citrin. .  Adv Enzyme Regul41   325 - 342   2001年査読

Palmieri L, Pardo B, Lasorsa FM, del Arco A, Kobayashi K, Iijima M, Runswick MJ, Walker JE, Saheki T, Satr〓stegui J and Palmieri F .  Citrin and aralar1 are Ca2+-stimulated aspartate/glutamate transporters in mitochondria. .  EMBO J20   5060 - 5069   2001年査読

Yoshida G, Horiuchi M, Kobayashi K, Jalil MA, Iijima M, Hagihara S, Nagao N and Saheki T .  The signaling pathway of cardiotrophin-1 is not activated in hypertrophied ventricles of carnitine-deficient juvenile visceral steatosis (JVS) mice. .  In Vivo14   401 - 405   2000年査読

Yasuda T, Yamaguchi N, Kobayashi K, Nishi I, Horinouchi H, Jalil MA, Li MX, Ushikai M, Iijima M, Kondo I and Saheki T .  Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia. .  Hum Genet107   537 - 545   2000年査読

Higashi M, Kobayashi K, Iijima M, Wakana S, Horiuchi M, Yasuda T, Yoshida G, Kanmura Y and Saheki T .  Genomic organization and mapping of mouse CDV (carnitine deficiency-associated gene expressed in ventricle)-1 and its related CDV-1R gene. .  Mamm Genome11   1053 - 1057   2000年査読

Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, Crackower MA, Kondo I, Tsui LC, Scherer SW, Saheki T .  The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. .  Nature Genetics22 ( 2 ) 159 - 163   1999年6月査読

Abdullah Abu Musa DM, Kobayashi K, Yasuda I, Iijima M, Christoffels VM, Tomomura M, Horiuchi M, Ohnishi T, Kajihara T, Daikuhara Y, Lamers WH, Saheki T .  Involvement of a cis-acting element in the suppression of carbamoyl phosphate synthetase I gene expression in the liver of carnitine-deficient mice. .  Mol Genet Metab68   346 - 356   1999年査読