PubMed

[Citrin deficiency is an important etiology for cholestatic liver disease in children]

Song YZ, Ushikai M, Kobayashi K, Saheki T.

Zhonghua Er Ke Za Zhi. 2009 Aug;47(8):624-7. Chinese. PMID: 19951499 [PubMed - in process]Related articles

Low levels of citrin (SLC25A13) expression in adult mouse brain restricted to neuronal clusters.

Contreras L, Urbieta A, Kobayashi K, Saheki T, Satrústegui J.

J Neurosci Res. 2009 Nov 11. [Epub ahead of print]PMID: 19908284 [PubMed - as supplied by publisher]Related articles

Failure of the feeding response to fasting in carnitine-deficient juvenile visceral steatosis (JVS) mice: involvement of defective acyl-ghrelin secretion and enhanced corticotropin-releasing factor signaling in the hypothalamus.

Sakoguchi T, Horiuchi M, Asakawa A, Ushikai M, Yoshida G, Fujimiya M, Kato I, Nakazato M, Takeuchi T, Saheki T, Inui A.

Biochim Biophys Acta. 2009 Nov;1792(11):1087-93. Epub 2009 Sep 8.PMID: 19744557 [PubMed - in process]Related articles

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK.

Hutchin T, Preece MA, Hendriksz C, Chakrapani A, McClelland V, Okumura F, Song YZ, Iijima M, Kobayashi K, Saheki T, McKiernan P, Baumann U.

J Inherit Metab Dis. 2009 Jun 11. [Epub ahead of print]PMID: 19517266 [PubMed - as supplied by publisher]Related articles

[Failure to thrive and dyslipidemia caused by citrin deficiency: a novel clinical phenotype]

Song YZ, Guo L, Yang YL, Han LS, Kobayashi K, Saheki T.

Zhongguo Dang Dai Er Ke Za Zhi. 2009 May;11(5):328-32. Chinese. PMID: 19470249 [PubMed - indexed for MEDLINE]Related articlesFree article

Living donor liver transplantation for type II citrullinemia from a heterozygous donor.

Hirai I, Kimura W, Suto K, Fzjimoto H, Watanabe T, Fuse A, Kobayashi K, Iijima M, Saheki T, Nakatsuka T, Sugawara Y, Makuuchi M.

Hepatogastroenterology. 2008 Nov-Dec;55(88):2211-6.PMID: 19260507 [PubMed - indexed for MEDLINE]Related articles

Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period.

Nagasaka H, Okano Y, Tsukahara H, Shigematsu Y, Momoi T, Yorifuji J, Miida T, Ohura T, Kobayashi K, Saheki T, Hirano K, Takayanagi M, Yorifuji T.

Mol Genet Metab. 2009 May;97(1):21-6. Epub 2009 Jan 25.PMID: 19232506 [PubMed - indexed for MEDLINE]Related articles

Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical and laboratory investigation of 13 subjects in mainland of China.

Song YZ, Li BX, Chen FP, Liu SR, Sheng JS, Ushikai M, Zhang CH, Zhang T, Wang ZN, Kobayashi K, Saheki T, Zheng XY.

Dig Liver Dis. 2009 Sep;41(9):683-9. Epub 2009 Jan 29.PMID: 19185551 [PubMed - in process]Related articles

Proteomic analysis identifies proteins that continue to grow hepatic stem-like cells without differentiation.

Saheki T, Ito H, Sekiguchi A, Nishina A, Sugiyama T, Izumi T, Kojima I.

Cytotechnology. 2008 Jun;57(2):137-43. Epub 2008 Jan 15.PMID: 19003158 [PubMed - in process]Related articlesFree article

Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate.

Mutoh K, Kurokawa K, Kobayashi K, Saheki T.

J Inherit Metab Dis. 2008 Oct 29. [Epub ahead of print]PMID: 18958581 [PubMed - as supplied by publisher]Related articles

Carcinogen adsorbent prepared from DNA complex by gamma-ray irradiation.

Furusawa K, Kita E, Saheki T, Nagasawa N, Nishi N, Dobashi T.

J Biomater Sci Polym Ed. 2008;19(9):1159-70.PMID: 18727858 [PubMed - indexed for MEDLINE]Related articles

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 YZ, Tanaka E, Kiyosawa K, Saheki T, Aoyama T, Kobayashi K.

J Hepatol. 2008 Nov;49(5):810-20. Epub 2008 Jun 10.PMID: 18620775 [PubMed - indexed for MEDLINE]Related articles

Reduced carbohydrate intake in citrin-deficient subjects.

Saheki T, Kobayashi K, Terashi M, Ohura T, Yanagawa Y, Okano Y, Hattori T, Fujimoto H, Mutoh K, Kizaki Z, Inui A.

J Inherit Metab Dis. 2008 Jun;31(3):386-94. Epub 2008 Apr 14.PMID: 18415701 [PubMed - indexed for MEDLINE]Related articles

Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency.

Tabata A, Sheng JS, Ushikai M, Song YZ, Gao HZ, Lu YB, Okumura F, Iijima M, Mutoh K, Kishida S, Saheki T, Kobayashi K.

J Hum Genet. 2008;53(6):534-45. Epub 2008 Apr 5.PMID: 18392553 [PubMed - indexed for MEDLINE]Related articles

Primary liver carcinoma exhibiting dual hepatocellular-biliary epithelial differentiations associated with citrin deficiency: a case report.

Soeda J, Yazaki M, Nakata T, Miwa S, Ikeda S, Hosoda W, Iijima M, Kobayashi K, Saheki T, Kojiro M, Miyagawa S.

J Clin Gastroenterol. 2008 Aug;42(7):855-60.PMID: 18385606 [PubMed - indexed for MEDLINE]Related articles

Six cases of citrin deficiency in Korea.

Ko JM, Kim GH, Kim JH, Kim JY, Choi JH, Ushikai M, Saheki T, Kobayashi K, Yoo HW.

Int J Mol Med. 2007 Dec;20(6):809-15.PMID: 17982687 [PubMed - indexed for MEDLINE]Related articles

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.

J Biol Chem. 2007 Aug 24;282(34):25041-52. Epub 2007 Jun 25.PMID: 17591776 [PubMed - indexed for MEDLINE]Related articlesFree article

Role of aralar, the mitochondrial transporter of aspartate-glutamate, in brain N-acetylaspartate formation and Ca(2+) signaling in neuronal mitochondria.

Satrústegui J, Contreras L, Ramos M, Marmol P, del Arco A, Saheki T, Pardo B.

J Neurosci Res. 2007 Nov 15;85(15):3359-66. Review.PMID: 17497669 [PubMed - indexed for MEDLINE]Related articles

Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet.

Dimmock D, Kobayashi K, Iijima M, Tabata A, Wong LJ, Saheki T, Lee B, Scaglia F.

Pediatrics. 2007 Mar;119(3):e773-7.PMID: 17332192 [PubMed - indexed for MEDLINE]Related articlesFree article

Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).

Ohura T, Kobayashi K, Tazawa Y, Abukawa D, Sakamoto O, Tsuchiya S, Saheki T.

J Inherit Metab Dis. 2007 Apr;30(2):139-44. Epub 2007 Feb 24.PMID: 17323144 [PubMed - indexed for MEDLINE]Related articles

Ca2+ Activation kinetics of the two aspartate-glutamate mitochondrial carriers, aralar and citrin: role in the heart malate-aspartate NADH shuttle.

Contreras L, Gomez-Puertas P, Iijima M, Kobayashi K, Saheki T, Satrústegui J.

J Biol Chem. 2007 Mar 9;282(10):7098-106. Epub 2007 Jan 9.PMID: 17213189 [PubMed - indexed for MEDLINE]Related articlesFree article

An autopsy case with adult onset type II citrullinemia showing myelopathy.

Tazawa K, Shimojima Y, Okano T, Yazaki M, Takei Y, Shimojo H, Kobayashi K, Saheki T, Ikeda S.

J Neurol Sci. 2007 Feb 15;253(1-2):77-80. Epub 2007 Jan 2.PMID: 17196992 [PubMed - indexed for MEDLINE]Related articles

[Progresses and perspectives in the study on citrin deficiency]

Lu YB, Peng F, Li MX, Kobayashi K, Saheki T.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Dec;23(6):655-8. Review. Chinese. PMID: 17160946 [PubMed - indexed for MEDLINE]Related articles

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 Jan;90(1):30-6. Epub 2006 Nov 7.PMID: 17092749 [PubMed - indexed for MEDLINE]Related articles

Prolonged effect of single carnitine administration on fasted carnitine-deficient JVS mice regarding their locomotor activity and energy expenditure.

Li MX, Yoshida G, Horiuchi M, Kobayashi K, Saheki T.

Biochim Biophys Acta. 2006 Oct;1761(10):1191-9. Epub 2006 Aug 30.PMID: 17027329 [PubMed - indexed for MEDLINE]Related articles

Adult-onset type II citrullinemia associated with idopathic hypertriglyceridemia as a preceding feature.

Terada R, Yamamoto K, Kobayashi K, Sakaguchi K, Iwasaki Y, Saheki T, Shiratori Y.

J Gastroenterol Hepatol. 2006 Oct;21(10):1634-5. No abstract available. PMID: 16928234 [PubMed - indexed for MEDLINE]Related articles

Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency.

Lee NC, Chien YH, Kobayashi K, Saheki T, Chen HL, Chiu PC, Ni YH, Chang MH, Hwu WL.

J Inherit Metab Dis. 2006 Aug;29(4):551-5. Epub 2006 May 30.PMID: 16736097 [PubMed - indexed for MEDLINE]Related articles

[A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency]

Song YZ, Hao H, Ushikai M, Liu GS, Xiao X, Saheki T, Kobayashi K, Wang ZN.

Zhongguo Dang Dai Er Ke Za Zhi. 2006 Apr;8(2):125-8. Chinese. PMID: 16613706 [PubMed - indexed for MEDLINE]Related articles

Fasting-induced reduction in locomotor activity and reduced response of orexin neurons in carnitine-deficient mice.

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.

Neurosci Res. 2006 May;55(1):78-86. Epub 2006 Mar 15.PMID: 16540195 [PubMed - indexed for MEDLINE]Related articles

Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice.

Moriyama M, Li MX, Kobayashi K, Sinasac DS, Kannan Y, Iijima M, Horiuchi M, Tsui LC, Tanaka M, Nakamura Y, Saheki T.

J Hepatol. 2006 May;44(5):930-8. Epub 2005 Nov 8.PMID: 16458993 [PubMed - indexed for MEDLINE]Related articles

Attenuation of cardiac hypertrophy in carnitine-deficient juvenile visceral steatosis (JVS) mice achieved by lowering dietary lipid.

Jalil MA, Horiuchi M, Wakamatsu M, Li MX, Begum L, Suzuki K, Kobayashi K, Oka T, Saheki T.

J Biochem. 2006 Feb;139(2):263-70.PMID: 16452314 [PubMed - indexed for MEDLINE]Related articles

A case of adult-onset type II citrullinemia--deterioration of clinical course after infusion of hyperosmotic and high sugar solutions.

Takahashi H, Kagawa T, Kobayashi K, Hirabayashi H, Yui M, Begum L, Mine T, Takagi S, Saheki T, Shinohara Y.

Med Sci Monit. 2006 Feb;12(2):CS13-5. Epub 2006 Jan 26.PMID: 16449956 [PubMed - indexed for MEDLINE]Related articles

Cirrhosis in an infant heterozygous for classical citrullinaemia.

Ezgü FS, Tümer L, Dalgiç B, Hasanoĝlu A, Kobayashi K, Saheki T.

Acta Paediatr. 2005 Dec;94(12):1849-51.PMID: 16421053 [PubMed - indexed for MEDLINE]Related articles

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.

Metabolism. 2005 Dec;54(12):1615-9.PMID: 16311094 [PubMed - indexed for MEDLINE]Related articles

Adult onset type II citrullinemia as a cause of non-alcoholic steatohepatitis.

Takagi H, Hagiwara S, Hashizume H, Kanda D, Sato K, Sohara N, Kakizaki S, Takahashi H, Mori M, Kaneko H, Ohwada S, Ushikai M, Kobayashi K, Saheki T.

J Hepatol. 2006 Jan;44(1):236-9. Epub 2005 Sep 26.PMID: 16278034 [PubMed - indexed for MEDLINE]Related articles

Essential role of aralar in the transduction of small Ca2+ signals to neuronal mitochondria.

Pardo B, Contreras L, Serrano A, Ramos M, Kobayashi K, Iijima M, Saheki T, Satrústegui J.

J Biol Chem. 2006 Jan 13;281(2):1039-47. Epub 2005 Nov 3.PMID: 16269409 [PubMed - indexed for MEDLINE]Related articlesFree article

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 Oct;33(2):181-4. Epub 2005 Sep 30.PMID: 16199199 [PubMed - in process]Related articles

Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.

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.

J Hum Genet. 2005;50(7):338-46. Epub 2005 Jul 30.PMID: 16059747 [PubMed - indexed for MEDLINE]Related articles

Reduced N-acetylaspartate levels in mice lacking aralar, a brain- and muscle-type mitochondrial aspartate-glutamate carrier.

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, Satrústegui J, Saheki T.

J Biol Chem. 2005 Sep 2;280(35):31333-9. Epub 2005 Jun 29.PMID: 15987682 [PubMed - indexed for MEDLINE]Related articlesFree article

Synthesis of diversely functionalized hexahydropyrrolo[2,3-b]indoles using domino reactions, olefination, isomerization and Claisen rearrangement followed by reductive cyclization.

Kawasaki T, Ogawa A, Terashima R, Saheki T, Ban N, Sekiguchi H, Sakaguchi KE, Sakamoto M.

J Org Chem. 2005 Apr 15;70(8):2957-66.PMID: 15822954 [PubMed - indexed for MEDLINE]Related articles

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 Mar;44(3):188-95.PMID: 15805705 [PubMed - indexed for MEDLINE]Related articlesFree article

A possible mechanism of neonatal intrahepatic cholestasis caused by citrin deficiency.

Tazawa Y, Abukawa D, Sakamoto O, Nagata I, Murakami J, Iizuka T, Okamoto M, Kimura A, Kurosawa T, Iinuma K, Kobayashi K, Saheki T, Ohura T.

Hepatol Res. 2005 Mar;31(3):168-71.PMID: 15777702 [PubMed - in process]Related articles

[Molecular basis of citrin deficiency]

Kobayashi K, Saheki T.

Seikagaku. 2004 Dec;76(12):1543-59. Review. Japanese. No abstract available. PMID: 15675368 [PubMed - indexed for MEDLINE]Related articles

Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhood.

Hachisu M, Oda Y, Goto M, Kobayashi K, Saheki T, Ohura T, Noma S, Kitanaka S.

Eur J Pediatr. 2005 Feb;164(2):109-10. Epub 2004 Dec 9. No abstract available. PMID: 15592876 [PubMed - indexed for MEDLINE]Related articles

A pregnant patient with fulminant hepatic failure was found to carry a novel missense mutation in the argininosuccinate synthetase gene.

Ito S, Kurasawa G, Yamamoto K, Furuta I, Ishihara F, Kobayashi K, Saheki T, Matsuura T, Yamauchi M, Kakinoki H.

J Gastroenterol. 2004 Nov;39(11):1115-7. No abstract available. PMID: 15580409 [PubMed - indexed for MEDLINE]Related articles

Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients.

Tazawa Y, Kobayashi K, Abukawa D, Nagata I, Maisawa S, Sumazaki R, Iizuka T, Hosoda Y, Okamoto M, Murakami J, Kaji S, Tabata A, Lu YB, Sakamoto O, Matsui A, Kanzaki S, Takada G, Saheki T, Iinuma K, Ohura T.

Mol Genet Metab. 2004 Nov;83(3):213-9.PMID: 15542392 [PubMed - indexed for MEDLINE]Related articles

Chronic pancreatitis associated with adult-onset type II citrullinemia: clinical and pathologic findings.

Ikeda S, Kawa S, Takei Y, Yamamoto K, Shimojo H, Tabata K, Kobayashi K, Saheki T.

Ann Intern Med. 2004 Oct 5;141(7):W109-10. No abstract available. PMID: 15466765 [PubMed - indexed for MEDLINE]Related articlesFree article

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 Oct;56(4):608-14. Epub 2004 Aug 4.PMID: 15295082 [PubMed - indexed for MEDLINE]Related articles

Pregnancy in a healthy woman with untreated citrullinemia.

Potter MA, Zeesman S, Brennan B, Kobayashi K, Gao HZ, Tabata A, Saheki T, Whelan DT.

Am J Med Genet A. 2004 Aug 15;129A(1):77-82.PMID: 15266621 [PubMed - indexed for MEDLINE]Related articles

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.

Mol Genet Metab. 2004 Apr;81 Suppl 1:S20-6. Review.PMID: 15050970 [PubMed - indexed for MEDLINE]Related articles