Publication Lists

Project Professor Takeyori Saheki

Original articles

  1. Kobayashi, K., Saheki, T., Song, YZ. Citrin Deficiency. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviewsTM [Internet]. Seattle (WA): University of Washington, Seattle:1993-2005 Sep 16 [updated 2012 Jan 05].
  2. Saheki, T., Inoue, K., Ono, H., Tushima, A., Katsura, N., Yokogawa, M., Yoshidumi, Y., Kuhara, T., Ohse, M., Eto, K., Kadowaki, T., Sinasac, DS., Kobayashi, K. Metabolomic analysis reveals hepatic metabolite perturbations in citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mice, a model of human citrin deficiency. Mol Genet Metab, 104(4): 492-500, 2011
  3. Saheki, T., Inoue, K., Tushima, A., Mutoh, K., Kobayashi, K. Citrin deficiency and current treatment concepts. Mol Genet Metab. 100 Suppl 1: S59-64, 2010.
  4. Saheki, T., Kobayashi, K., Terashi, M., Ohura, T., Yanagawa, Y., Okano, Y., Hattori, T., Fujimoto, H., Mutoh, K., Kizaki, Z., Inui, A. Reduced carbohydrate intake in citrin-deficient subjects. J Inherit Metab Dis. 31(3): 386-94,2008.
  5. 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): 534-45, 2008.
  6. 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-knockout mice recapitulate features of human citrin deficiency. J Biol Chem. 282(34):25041-52, 2007.
  7. 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. Pediatrics. 119(3): e773-7, 2007.
  8. Contreras, L., Gomez-Puertas, P., Iijima, M., Kobayashi, K., Saheki, T., Satrustegui, J. Ca2+ Activation kinetics of the two aspartate-glutamate mitochondrial carriers, aralar and citrin: role in the heart malate-aspartate NADH shuttle. J Biol Chem. 282(10):7098-106, 2007.
  9. Moriyama, M., Li, MX., Kobayashi, K., Sinasac, DS., Kannan, Y., Iijima, M., Horiuchi, M., Tsui, LC., Tanaka, M., Nakamura, Y., Saheki, T. Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice. J Hepatol. 44(5): 930-8, 2006.
  10. Pardo, B., Contreras, L., Serrano, A., Ramos, M., Kobayashi, K., Iijima, M., Saheki, T., Satrustegui, J. Essential role of aralar in the transduction of small Ca2+ signals to neuronal mitochondria. J Biol Chem. 281(2): 1039-47, 2006.
  11. 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 Chem. 280(35): 31333-9, 2005.
  12. Yazaki, M., Takei, Y., Kobayashi, K., Saheki, T., Ikeda, S. Risk of worsened encephalopathy after intravenous glycerol therapy in patients with adult-onset type II citrullinemia (CTLN2). Intern Med. 44(3): 188-95, 2005.
  13. Saheki, T., Kobayashi, K. <Minireview>Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). J Hum Genet. 47(7): 333-41, 2002.
  14. Palmieri, L., Pardo, B., Lasorsa, FM., del Arco, A., Kobayashi, K., Iijima, M., Runswick, MJ., Walker, JE., Saheki, T., Satrustegui, J., Palmieri, F. Citrin and aralar1 are Ca2+-stimulated aspartate/glutamate transporters in mitochondria. EMBO J. 20(18): 5060-9, 2001.
  15. 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. Nat Genet. 22(2): 159-63, 1999.
  16. Kuwajima, M., Horiuchi, M., Harashima, H., Lu, K., Hayashi, M., Sei, M., Ozaki, K., Kudo, T, Kamido, H., Ono, A., Saheki, T., Shima, K. Cardiomegaly in the juvenile visceral steatosis(JVS) mouse is reduced with acute elevation of heart short-chain acyl-carnitine level after L-carnitine injection. FEBS Lett. 443(3): 261-6, 1999.
  17. Nakajima, T., Horiuchi, M., Yamanaka, H., Kizaki, Z., Inoue, F., Kodo, N., Kinugasa, A., Saheki, T., Sawada, T. The effect of carnitine on ketogenesis in perfused livers from juvenile visceral steatosis mice with systemic carnitine deficiency. Pediatr Res. 42(1): 108-13, 1997.
  18. Kobayashi, K., Nakata, M., Terazono, H., Shinsato, T., Saheki, T. Pancreatic secretory trypsin inhibitor gene is highly expressed in the liver of adult-onset type II citrullinemia. FEBS Lett. 372(1): 69-73, 1995.
  19. Kobayashi, K., Shaheen, N., Kumashiro, R., Tanikawa, K., O'Brien, WE., Beaudet, AL., Saheki, T. A search for the primary abnormality in adult-onset type II citrullinemia. Am J Hum Genet. 53(5): 1024-30, 1993.
  20. Horiuchi, M., Kobayashi, K., Tomomura, M., Kuwajima, M., Imamura, Y., Koizumi, T., Nikaido, H., Hayakawa, J., Saheki, T. Carnitine administration to juvenile visceral steatosis mice corrects the suppressed expression of urea cycle enzymes by normalizing their transcription. J Biol hem.267(8): 5032-5, 1992.

Presentations

  1. Saheki, T.: Citrin Deficiency-One of the most prevalent inherited metabolic diseases in East Asia- Vietnamese Association of Diabetes and Endocrinology in Hue, May 11. 2012, Hue (Vietnam)
  2. Saheki, T.: Treatment of Citrin Deficiency: Assessment by using an Animal Model. The 2nd ACIMD & the 12th AEWIEM, April 1-4. 2012, Seoul(Korea)
  3. Saheki, T.: Reminiscence of Professor Keiko Kobayashi: Discovery of citrin deficiency. International Symposium on Citrin Deficiency at Matsumoto, October 6-7. 2011, Matsumoto (Japan)
  4. Saheki, T., Kobayashi, K.: Overview of Citrin Defciiency: Pathophysiology and therapy for citrin deficincy based on the mouse model analysis. International Symposium on Citrin Deficiency at Matsumoto, October 6-7. 2011, Matsumoto (Japan)
  5. Saheki, T., Kobayashi, K.: Pathophysiology of Citrin, a liver-type mitochondrial aspartate glutamate carrier, deficinecy and development of therapeutics.-Analysis using a mouse model- 12th International Congress on Amino Acids, Peptides and Proteins, August 1-5. 2011, Beijing (China)
  6. Saheki, T., Kobayashi, K.: Pathophysiology and treatment of deficiency of citrin, liver-type aspartate glutamate carrier: A lesson from the mice model. Bari Symposium on the celebration of Professor Dr. Ferdinando Palmieri retirement, May 10. 2011, Bari (Italy)
  7. Saheki, T., Kobayashi, K.: Citrin deficiency: Pathophysiology and treatment based on animal model analysis. 9th Asia Pacific Conference on Human Genetics, Nov 30-Dec 3. 2010, Hong Kong(China)
  8. Saheki, T., Kobayashi, K.: Pathophysiology and therapy of citrin deficiency judging from analysis of the model mice. The AASPP Meeting, July 31. 2010, Changchu (China)
  9. Saheki, T., Kobayashi, K.: Pathophysiology and therapy of citrin deficiency: consideration from analysis of the model mice. The 1st Asian Congress for Inherited Metabolic Diseases (ACIMD), Plenary Lecture , March 7-10. 2010, Fukuoka(Japan)
  10. Saheki, T., Kobayashi, K.: Citrin deficiency and current treatment concepts. Satellite Symposium to the 11th International Congress on Inborn Errors of Metabolism: Overcoming Barriers-New Developments and Future Directions for Urea Cycle Disorders, August 27-29. 2009, La Jolla(USA)
  11. Saheki, T., Kobayashi, K.: Citrin deficiency: Pathophysiology and issues of its treatment. AASPP-Seminar on Citrin Deficiency in Vietnam jointed with Pediatric Society Meeting of HCMC, June 26. 2008, Ho Chi Minh City(Vietnam)
  12. Saheki, T., Moriyama, M., Kobayashi, K.: Hyperammonemia in a mouse model of citrin deficiency. The 11th Asian-European Workshop on Inborn Errors of Metabolism (AEWIEM), April 18-23. 2008, Seoul and Jeju(Korea)
  13. Saheki, T., Kobayashi, K.: A newly-established disease entity, citrin deficiency. (Educational Lecture) The 11th Asian-European Workshop on Inborn Errors of Metabolism (AEWIEM), April 18-23. 2008, Seoul and Jeju(Korea)
  14. Saheki, T., Kobayashi, K.: Pathobiochemistry and dietary treatment of citrin deficiency. Workshop on Nutrition and Dietary treatment, SSIEM ? 44th Annual Symposium, September 4-7. 2007, Hamburg(Germany)
  15. Saheki, T., Kobayashi, K.: Pathophysiology of citrin deficiency: Carbohydrate toxicity in citrin deficiency. The 2nd International Symposium on Citrin Deficiency, August 27-28. 2007, Haikou-Hainan(China)
  16. Saheki, T., Kobayashi, K., Iijima ,M., Li, MX., Terashi, M., Mutoh, K.: Pathophysiology and treatment of citrin deficiency. The 7th Annual Meeting of the Korean Society of Inherited Metabolic Disease (KSIMD), July 15. 2006, Seoul(Korea)
  17. Saheki, T., Kobayashi, K., Iijima, M., Li, MX., Terashi, M., Mutoh, K.: Carbohydrate toxicity in citrin deficiency. AASPP-Seminar on Frequency and Pathophysiology of Citrin Deficiency in Hong Kong , June 19. 2006, Hong Kong(China)
  18. Saheki, T., Kobayashi, K., Li, MX., Iijima, M., Terashi, M., Mutoh, K. :Pathophysiology of citrin deficiency. 12th International Symposium on Hepatic Encephalopathy and Nitrogen Metabolism, June 1-4. 2005, Burg Castle(Germany)
  19. Saheki, T., Jalil, MA., Iijima, M., Begum, L., Li, MX., Horiuchi, M., Kobayashi, K.: Creation of gene-knockout mice for citrin and for aralar by insertion mutation. [ICIEM 2003] IXth International Congress on Inborn Errors of Metabolism, September 2-6. 2003, Brisbane, Queensland( Australia)
  20. Saheki, T., Kobayashi, K., Iijima, M., Horiuchi, M., Begum, L., Jalil, MD., Li, MX., Lu, YB., Ushikai, M., Tabata, A., Moriyama, M., Hsiao, KJ., Yang, Y.: 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. “New Developments in Urea Cycle Disorders” Satellite to the IXth International Congress on Inborn Errors of Metabolism, August 31-September 1. 2003, Manly, Sydney(Australia)
PAGE TOP