T. Saheki

T. Saheki, M. Ushikai, K. Kobayashi, 2009, Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver.

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

T. Saheki, Y. Shinohara, Keiko Kobayashi, 2006, Medical science monitor : international medical journal of experimental and clinical research.

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

T. Saheki, Keiko Kobayashi, Yanling Yang, 2009, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

A 73-year-old patient with adult-onset type II citrullinemia successfully treated by sodium pyruvate and arginine

T. Saheki, S. Ikeda, M. Yazaki, 2013, Clinical Neurology and Neurosurgery.

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

H. Tsukahara, T. Saheki, T. Miida, 2009, Molecular genetics and metabolism.

Novel diagnostic approach to citrin deficiency: analysis of citrin protein in lymphocytes.

T. Saheki, Keiko Kobayashi, M. Iijima, 2007, Molecular genetics and metabolism.

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

T. Saheki, S. Ikeda, Keiko Kobayashi, 2008, Journal of clinical gastroenterology.

Screening for five prevalent mutations of SLC25A13 gene in Guangdong, China: a molecular epidemiologic survey of citrin deficiency.

T. Saheki, S. Kure, A. Kikuchi, 2014, The Tohoku journal of experimental medicine.

Cardiac hypertrophy in juvenile visceral steatosis (jvs) mice with systemic carnitine deficiency

T. Saheki, Keiko Kobayashi, T. Koizumi, 1993, FEBS Letters.

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

T. Saheki, S. Nakagawa, Zhi-Li Huang, 2006, Neuroscience Research.

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

T. Saheki, Keiko Kobayashi, M. Li, 2006, Biochimica et biophysica acta.

Proteolytic activities in yeast.

T. Saheki, H. Holzer, 1975, Biochimica et biophysica acta.

Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: Clinical significance of portal vein imaging

T. Saheki, N. Sakura, K. Kobayashi, 2004, Journal of Inherited Metabolic Disease.

The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia

T. Saheki, Haiyan Fu, Keiko Kobayashi, 2011, Journal of Gastroenterology.

A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2.

T. Saheki, Keiko Kobayashi, M. Setoyama, 2002, The Journal of investigative dermatology.

Mapping of jvs (juvenile visceral steatosis) gene, which causes systemic carnitine deficiency in mice, on Chromosome 11

T. Saheki, J. Hayakawa, H. Nikaido, 1995, Mammalian Genome.

Genomic organization and mapping of mouse CDV (carnitine deficiency-associated gene expressed in ventricle)-1 and its related CDV-1R gene

S. Wakana, T. Saheki, Keiko Kobayashi, 2000, Mammalian Genome.

A case of adult-onset type II citrullinemia in which oral administration of L-Arginine Granules improved the patient's encephalopathy and the increased level of serum ammonia

T. Saheki, Keiko Kobayashi, Joutarou Shinzawa, 2009 .

Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia

T. Saheki, Keiko Kobayashi, H. Terazono, 1995, Human Genetics.

Mutations and DNA diagnoses of classical citrullinemia

T. Saheki, H. Terazono, K. Kobayashi, 1997, Human mutation.

Isolation and characterization of elasnin, a new human granulocyte elastase inhibitor produced by a strain of Streptomyces.

S. Ōmura, T. Saheki, A. Nakagawa, 1978, The Journal of antibiotics.

Chronic hepatitis without hepatic steatosis caused by citrin deficiency in a child

T. Saheki, T. Fujisawa, H. Komatsu, 2016, Hepatology research : the official journal of the Japan Society of Hepatology.

Pathogenesis and Pathophysiology of Citrin (a Mitochondrial Aspartate Glutamate Carrier) Deficiency

T. Saheki, Keiko Kobayashi, M. Iijima, 2002, Metabolic Brain Disease.

Purification of atrial natriuretic peptide receptor from bovine lung. Evidence for a disulfide-linked subunit structure.

J. Kondo, T. Saheki, S. Hirose, 1987, The Journal of biological chemistry.

Analyses of the transglutaminase 1 gene mutation and ultrastructural characteristics in a Japanese patient with lamellar ichthyosis.

M. Akiyama, T. Saheki, K. Yoneda, 2000, Journal of dermatological science.

Messenger RNA CodingforArgininosuccinate Synthetase inCitrullinemia

T. Saheki, H. Nomiyama, Y. Jinno, 1986 .

Identification of fumonisin B1 as an inhibitor of argininosuccinate synthetase using fumonisin affinity chromatography and in vitro kinetic studies

T. Saheki, W. Tolleson, Keiko Kobayashi, 2000, Journal of biochemical and molecular toxicology.

High serum pancreatic secretory trypsin inhibitor before onset of type II citrullinemia

T. Saheki, Y. Tsuboi, K. Kobayashi, 2001, Neurology.

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

T. Saheki, C. Hendriksz, M. Iijima, 2009, Journal of Inherited Metabolic Disease.

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

Dong Hwan Lee, L. Tsui, K. Hsiao, 2005, Journal of Human Genetics.

Complete neurological recovery of an adult patient with type II citrullinemia after living related partial liver transplantation.

S. Kawasaki, M. Makuuchi, N. Yanagisawa, 1996, Transplantation.

Complete nucleotide sequence of cDNA and deduced amino acid sequence of rat liver arginase.

T. Saheki, Keiko Kobayashi, S. Iwanaga, 1987, Journal of Biological Chemistry.

Importance of ornithine transcarbamylase (OTC) deficiency in small intestine for urinary orotic acid excretion: analysis of OTC-deficient spf-ash mice with OTC transgene.

T. Saheki, K. Yamamura, M. Mori, 1995, Biochimica et biophysica acta.

Regulation of urea synthesis: changes in the concentration of ornithine in the liver corresponding to changes in urea synthesis.

T. Saheki, M. Hosoya, T. Katsunuma, 1982, Advances in experimental medicine and biology.

Physical and functional association of the atrial natriuretic peptide receptor with particulate guanylate cyclase as demonstrated using detergent extracts of bovine lung membranes.

T. Saheki, S. Hirose, M. Ishido, 1986, Biochemical and biophysical research communications.

Caldecrin proform requires trypsin activation for the acquisition of serum calcium‐decreasing activity

T. Saheki, M. Tomomura, Y. Nishii, 1993, FEBS letters.

Antagonizing effect of AP-1 on glucocorticoid induction of urea cycle enzymes: a study of hyperammonemia in carnitine-deficient, juvenile visceral steatosis mice.

T. Saheki, M. X. Li, K. Kobayashi, 2000, Molecular genetics and metabolism.

Involvement of a cis-acting element in the suppression of carbamoyl phosphate synthetase I gene expression in the liver of carnitine-deficient mice.

T. Saheki, T. Ohnishi, M. Iijima, 1999, Molecular genetics and metabolism.

Regulation of Urea Synthesis

T. Saheki, 1979 .

Structure of the 5′ end region of the human argininosuccinate synthetase gene

T. Saheki, I. Matsuda, H. Nomiyama, 1985, Journal of Inherited Metabolic Disease.

Hyperammonemia caused by impaired mitochondrial ornithine transport in a patient with partial quantitative deficiency of ornithine carbamoyltransferase.

T. Saheki, I. Inoue, T. Kuno, 1990, Clinical Biochemistry.

Biochemical analysis of decreased ornithine transport activity in the liver mitochondria from patients with hyperornithinemia, hyperammonemia and homocitrullinuria.

T. Saheki, T. Yuasa, T. Miyatake, 1988, Biochimica et biophysica acta.

Abnormal gene expression causing hyperammonemia in carnitine-deficient juvenile visceral steatosis (JVS) mice.

T. Saheki, M. Tomomura, M. Horiuchi, 1997, Advances in experimental medicine and biology.

Immunoenzymatic studies of ornithine transcarbamylase (OTC) in liver of patients with OTC deficiency by enzyme linked immunosorbent assay (ELISA).

A. Tsuchiyama, T. Saheki, M. Nagao, 1987, The Tohoku journal of experimental medicine.

Primary defect of juvenile visceral steatosis (jvs) mouse with systemic carnitine deficiency is probably in renal carnitine transport system.

T. Saheki, T. Koizumi, J. Hayakawa, 1994, Biochimica et biophysica acta.

Abnormality of citrulline synthesis in liver mitochondria from patients with hyperornithinaemia, hyperammonaemia and homocitrullinuria

T. Saheki, T. Yuasa, T. Miyatake, 1987, Journal of Inherited Metabolic Disease.

Effect of ornithine concentration on citrulline synthesis in mouse liver mitochondria.

T. Saheki, I. Inoue, K. Yoshimine, 1990, Biochemical medicine and metabolic biology.

The Effect of Carnitine on Ketogenesis in Perfused Livers from Juvenile Visceral Steatosis Mice with Systemic Carnitine Deficiency

T. Saheki, M. Horiuchi, Z. Kizaki, 1997, Pediatric Research.

Pyruvate dehydrogenase kinase 4 mRNA is increased in the hypertrophied ventricles of carnitine‐deficient juvenile visceral steatosis (JVS) mice

T. Saheki, Keiko Kobayashi, H. Terazono, 1999, BioFactors.

Hyperornithinemia, hyperammonemia, and homocitrullinuria

T. Saheki, T. Yuasa, T. Miyatake, 1987, Neurology.

Molecular Cloning and Expression of Serum Calcium- decreasing Factor (Caldecrin) (*)

T. Saheki, M. Akiyama, M. Tomomura, 1995, The Journal of Biological Chemistry.

Mutations in argininosuccinate synthetase mRNA in Japanese patients, causing classical citrullinemia.

T. Saheki, H. Terazono, N. Shaheen, 1994, American journal of human genetics.

Caldecrin is a novel-type serine protease expressed in pancreas, but its homologue, elastase IV, is an artifact during cloning derived from caldecrin gene.

T. Saheki, H. Itoh, K. Kobayashi, 1998, Journal of biochemistry.

Regulation of urea synthesis in rat liver. Changes of ornithine and acetylglutamate concentrations in the livers of rats subjected to dietary transitions.

T. Saheki, M. Sase, T. Katsunuma, 1977, Journal of biochemistry.

Elasnin, a new human granulocyte elastase inhibitor produced by a strain of Streptomyces.

S. Ōmura, T. Saheki, A. Nakagawa, 1978, Biochemical and biophysical research communications.

Secondary abnormality of carnitine biosynthesis results from carnitine reabsorptional system defect in juvenile visceral steatosis mice.

T. Saheki, M. Horiuchi, K. Kobayashi, 1997, Biochimica et biophysica acta.

Altered Postnatal Development of Cortico—Hippocampal Neuronal Electric Activity in Mice Deficient for the Mitochondrial Aspartate—Glutamate Transporter

T. Saheki, M. Gómez-Galán, J. Satrústegui, 2012, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.

Studies on rat liver argininosuccinate synthetase. Inhibition by various amino acids.

T. Saheki, Y. Igarashi, T. Katsunuma, 1979, Journal of biochemistry.

Role of aralar, the mitochondrial transporter of aspartate‐glutamate, in brain N‐acetylaspartate formation and Ca2+ signaling in neuronal mitochondria

T. Saheki, Laura Contreras, J. Satrústegui, 2007, Journal of neuroscience research.

Calcium-Regulation of Mitochondrial Respiration Maintains ATP Homeostasis and Requires ARALAR/AGC1-Malate Aspartate Shuttle in Intact Cortical Neurons

T. Saheki, J. Satrústegui, A. del Arco, 2013, The Journal of Neuroscience.

Ca2+ Activation Kinetics of the Two Aspartate-Glutamate Mitochondrial Carriers, Aralar and Citrin

T. Saheki, P. Gómez-Puertas, Keiko Kobayashi, 2007, Journal of Biological Chemistry.

Essential Role of Aralar in the Transduction of Small Ca+ Signals to Neuronal Mitochondria*

T. Saheki, Keiko Kobayashi, M. Iijima, 2006, Journal of Biological Chemistry.

Carbamoylphosphate synthetase deficiency in an adult: Deterioration due to administration of valproic acid

T. Saheki, M. Horiuchi, Y. Imamura, 1993, Journal of Inherited Metabolic Disease.

Orthotopic liver transplantation for urea cycle enzyme deficiency

T. Starzl, K. Tanikawa, W. Fenton, 1992, Hepatology.

Hereditary disorders of the urea cycle in man: biochemical and molecular approaches.

T. Saheki, I. Inoue, K. Kobayashi, 1987, Reviews of physiology, biochemistry and pharmacology.

Comparisons of the tryptophan synthase inactivating enzymes with proteinases from yeast.

T. Saheki, H. Holzer, 1974, European journal of biochemistry.

A Case of Citrullinemia with Abnormal Messenger RNA for Argininosuccinate Synthetase

T. Saheki, H. Ichiki, K. Kobayashi, 1991, Acta paediatrica Japonica : Overseas edition.

The α-ketoacid dehydrogenase complexes. Sequence similarity of rat pyruvate dehydrogenase with Escherichia coli and Azotobacter vinelandii α-ketoglutarate dehydrogenase

T. Miyata, S. Ohta, T. Saheki, 1991 .

Absence of argininosuccinate lyase protein in the liver of two patients with argininosuccinic aciduria.

T. Saheki, M. Mino, K. Kobayashi, 1986, Clinica chimica acta; international journal of clinical chemistry.

Improved matrix-assisted laser desorption/ionization time-of-flight mass spectrometric method for identification of amino acid O-glycosides in patients with alpha-N-acetylgalactosaminidase deficiency.

T. Saheki, M. Horiuchi, T. Kanzaki, 2002, Clinical chemistry.

Nuclear Accumulation of p53 Protein Correlates with Mutations in the p53 Gene on Archival Paraffin‐embedded Tissues of Human Breast Cancer

T. Saheki, Keiko Kobayashi, H. Yoshida, 1994, Japanese journal of cancer research : Gann.

Clearance of argininosuccinate synthetase from the circulation in acute liver disease.

T. Saheki, H. Ichiki, Y. Yagi, 1990, Clinical biochemistry.

Regulation of urea synthesis in rat liver. Inhibition of urea synthesis by L-norvaline.

T. Saheki, Y. Sato, T. Katsunuma, 1979, Journal of biochemistry.

Regulation of urea synthesis in rat liver. Increase in the concentrations of ornithine and acetylglutamate in rat liver in response to urea synthesis stimulated by the injection of an ammonium salt.

T. Saheki, T. Ohkubo, T. Katsunuma, 1978, Journal of biochemistry.

Accumulation of large neutral amino acids in the brain of sparse-fur mice at hyperammonemic state.

T. Saheki, T. Gushiken, I. Inoue, 1987, Biochemical medicine and metabolic biology.

Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria.

T. Saheki, H. Ichiki, Takeshi Noda, 1987, Enzyme.

Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids.

T. Saheki, Keiko Kobayashi, T. Yasuda, 2002, Molecular genetics and metabolism.

SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China

Y. Sunada, T. Saheki, Keiko Kobayashi, 2013, PloS one.

Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis.

T. Saheki, Haiyan Fu, Xiao-hong Wang, 2013, World journal of gastroenterology.

Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13.

T. Saheki, Keiko Kobayashi, Y. Matsubara, 2012, Molecular genetics and metabolism.

Six cases of citrin deficiency in Korea.

Ju-Hyun Kim, T. Saheki, J. Ko, 2007, International journal of molecular medicine.

Variant clinical courses of 2 patients with neonatal intrahepatic cholestasis who have a novel mutation of SLC25A13.

T. Saheki, Keiko Kobayashi, J. Takaya, 2005, Metabolism: clinical and experimental.

Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations.

W. Hwu, K. Hsiao, T. Saheki, 2003, Molecular genetics and metabolism.

Adult-Onset Type II Citrullinemia Deficits but Fail To Display Hallmarks of-Knockout Mice Harbor Metabolic Slc 25 a 13

L. Tsui, T. Saheki, Keiko Kobayashi, 2003 .

Type II Citrullinaemia (Citrin Deficiency) in a Neonate with Hypergalactosaemia Detected by Mass Screening

T. Saheki, I. Yokota, T. Saijo, 2002, Journal of Inherited Metabolic Disease.

Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)

Keiko Kobayashi, Takeyori Saheki, T. Saheki, 2002, Journal of Human Genetics.

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

T. Saheki, M. Nakagawa, Keiko Kobayashi, 2002, Human mutation.

Citrin and aralar1 are Ca2+‐stimulated aspartate/glutamate transporters in mitochondria

T. Saheki, M. Runswick, Keiko Kobayashi, 2001, The EMBO journal.

A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13gene

W. Hwu, T. Saheki, Y. Hu, 2001, Journal of medical genetics.

Type II Citrullinemia (Citrin Deficiency): A Mysterious Disease caused by a Defect of Calcium-Binding Mitochondrial Carrier Protein

S. Scherer, L. Tsui, T. Saheki, 2000 .

Endo-arabinanase from Bacillus subtilis F-11.

T. Saheki, A. Kaji, 1975, Biochimica et biophysica acta.

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

T. Saheki, Keiko Kobayashi, T. Matsuura, 2004, Journal of Gastroenterology.

Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency

T. Saheki, F. Endo, Keiko Kobayashi, 1998, Human mutation.

Abnormal gene expression and regulation in the liver of jvs mice with systemic carnitine deficiency.

T. Saheki, M. Tomomura, M. Horiuchi, 1994, Biochimica et biophysica acta.

A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency

T. Saheki, Keiko Kobayashi, K. Iinuma, 2003, European Journal of Pediatrics.

Feasibility of auxiliary partial orthotopic liver transplantation from living donors for patients with adult‐onset type II citrullinemia

T. Tokuda, T. Saheki, S. Ikeda, 2004, Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society.

Increase of brain ammonia after microwave irradiation and its mechanism.

T. Saheki, M. Horiuchi, K. Kobayashi, 1989, In vivo.

Pancreatic secretory trypsin inhibitor gene is highly expressed in the liver of adult‐onset type II citrullinemia

T. Saheki, H. Terazono, T. Shinsato, 1995, FEBS letters.

Induction of PDK4 in the heart muscle of JVS mice, an animal model of systemic carnitine deficiency, does not appear to reduce glucose utilization by the heart.

T. Saheki, A. Inui, Keiko Kobayashi, 2011, Molecular genetics and metabolism.

Immunological identification of a new component of Ascaris pyruvate dehydrogenase complex.

T. Saheki, S. Matuo, K. Nakano, 1987, Biochimica et biophysica acta.

Purification and immunochemical studies of pyruvate dehydrogenase complex from rat heart, and cell-free synthesis of lipoamide dehydrogenase, a component of the complex.

T. Saheki, S. Miura, M. Mori, 1983, Biochimica et biophysica acta.

Elevated argininosuccinate synthetase activity in adult T leukemia cell lines.

T. Saheki, K. Sugimura, I. Azuma, 1990, Leukemia research.

A novel A(-4)-to-G acceptor splice site mutation leads to three bases insertion in ferrochelatase mRNA in a patient with erythropoietic protoporphyria.

T. Saheki, S. Taketani, K. Kobayashi, 2001, The Journal of investigative dermatology.

Immunochemical comparison of lipoamide dehydrogenases from various sources and reactivity of various lipoamide dehydrogenases with rat heart pyruvate dehydrogenase-subcomplex.

T. Saheki, S. Matuda, 1985, Biochemical and biophysical research communications.

Molecular cloning and expression of human caldecrin

T. Saheki, M. Akiyama, Y. Nishii, 1996, FEBS letters.

Serum calcium‐decreasing factor (caldecrin) from porcine pancreas has proteolytic activity which has no clear connection with the calcium decrease

T. Saheki, T. Noikura, A. Tomomura, 1992, FEBS letters.

Lipoamide dehydrogenase in vitamin B2-deficient rat liver.

T. Saheki, S. Matuda, 1982, Biochemical and biophysical research communications.

E2-cDNA cloning and component X of pyruvate dehydrogenase complex

T. Saheki, S. Matuo, K. Nakano, 1988, Journal of Inherited Metabolic Disease.

Properties of component X of rat heart pyruvate dehydrogenase complex.

T. Saheki, S. Matuo, K. Nakano, 1988, Biochemical and biophysical research communications.

Molecular cloning of cDNA for rat liver lipoate acetyltransferase. A component of pyruvate dehydrogenase complex.

T. Saheki, S. Matuo, K. Nakano, 1987, Biochemical and biophysical research communications.

Intracellular distribution and biosynthesis of lipoamide dehydrogenase in rat liver.

T. Saheki, S. Matuda, 1982, Journal of biochemistry.

Carnitine administration to juvenile visceral steatosis mice corrects the suppressed expression of urea cycle enzymes by normalizing their transcription.

T. Saheki, T. Koizumi, J. Hayakawa, 1992, The Journal of biological chemistry.

Cardiomegaly in the juvenile visceral steatosis (JVS) mouse is reduced with acute elevation of heart short‐chain acyl‐carnitine level after l‐carnitine injection

T. Saheki, H. Harashima, M. Kuwajima, 1999, FEBS letters.

Brain Glutamine Synthesis Requires Neuronal-Born Aspartate as Amino Donor for Glial Glutamate Formation

Miguel Garzón, Keiko Kobayashi, Beatriz Pardo, 2011, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.

Reduced N-Acetylaspartate Levels in Mice Lacking Aralar, a Brain- and Muscle-type Mitochondrial Aspartate-glutamate Carrier*

T. Saheki, S. Nakagawa, Keiko Kobayashi, 2005, Journal of Biological Chemistry.

Developmental changes in the Ca2+-regulated mitochondrial aspartate-glutamate carrier aralar1 in brain and prominent expression in the spinal cord.

Keiko Kobayashi, Paola Bovolenta, Alberto Martínez-Serrano, 2003, Brain research. Developmental brain research.

Characterization of human wild-type and mutant argininosuccinate synthetase proteins expressed in bacterial cells.

T. Saheki, H. Terazono, N. Shaheen, 1994, Enzyme & protein.

Adult‐onset type II citrullinemia manifested as hepatosteatosis or steatohepatitis: A report of three Chinese cases

Min Wang, T. Saheki, M. Yazaki, 2022, Journal of digestive diseases.

A autopsied case of hypercitrullinemia in adult caused by partial deficiency of livcr arginosuccinate synthetase

T. Saheki, N. Katunuma, H. Kameda, 1980 .

Biochemical characteristics of neonatal cholestasis induced by citrin deficiency.

T. Saheki, Haiyan Fu, Keiko Kobayashi, 2012, World journal of gastroenterology.

Overview of Citrin Deficiency:SLC25A13 Mutations and the Frequency

T. Saheki, Keiko Kobayashi, Sayaka Ikeda, 2008 .

Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue.

S. Scherer, L. Tsui, M. Crackower, 1999, Genomics.

Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels

T. Saheki, H. Maruyama, Keiko Kobayashi, 2001, Journal of the Neurological Sciences.

Citrin deficiency

T. Saheki, M. Yazaki, Yuan-zong Song, 2020, Definitions.

Molecular basis of ornithine transcarbamylase deficiency lacking enzyme protein

T. Saheki, S. Miura, A. Ohtake, 1984, Journal of Inherited Metabolic Disease.

Treatment of adult-type citrullinemia with administration of citrate.

T. Saheki, Y. Yajima, T. Hirasawa, 1981, The Tohoku journal of experimental medicine.

Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia.

T. Saheki, K. Kusumi, M. Tsuda, 1981, Clinica chimica acta; international journal of clinical chemistry.

Studies of rat liver argininosucciante synthetase. I. Physicochemical, catalytic, and immunochemical properties.

T. Saheki, T. Katsunuma, S. Takada, 1977, Journal of biochemistry.

Increased insulin sensitivity despite lipodystrophy in Crebbp heterozygous mice

T. Saheki, T. Kadowaki, T. Yamauchi, 2002, Nature Genetics.

Structure of the bovine atrial natriuretic peptide receptor (type C) gene.

T. Mizuno, T. Saheki, T. Ito, 1991, The Journal of biological chemistry.

Nature and frequency of mutations in the argininosuccinate gene that cause classical citrullinemia

T. Saheki, Keiko Kobayashi, H. Terazono, 1995 .

A novel gene suppressed in the ventricle of carnitine‐deficient juvenile visceral steatosis mice 1

T. Saheki, H. Terazono, N. Yoshimura, 1997, FEBS letters.

Clinical application of enzyme immunoassay in the analysis of citrullinemia.

T. Saheki, H. Ichiki, E. Ishikawa, 1987, Clinica chimica acta; international journal of clinical chemistry.

Some properties of argininosuccinate synthetase purified from human liver and a comparison with the rat liver enzyme.

T. Saheki, M. Sase, K. Nakano, 1983, Journal of biochemistry.

Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis

T. Saheki, K. Shimokata, Y. Sekido, 2001, Prenatal diagnosis.

Novel Mutations (H337R and 238–362del) in the CPS1 Gene Cause Carbamoyl Phosphate Synthetase I Deficiency

T. Saheki, K. Shimokata, Y. Sekido, 2001, Human Heredity.

Expression of three mitochondrial solute carriers, citrin, aralar1 and ornithine transporter, in relation to urea cycle in mice.

T. Saheki, Keiko Kobayashi, M. Iijima, 2002, Biochimica et biophysica acta.

Inhibition of atrial natriuretic peptide-induced cyclic GMP accumulation in the bovine endothelial cells with anti-atrial natriuretic peptide receptor antiserum.

T. Saheki, S. Hirose, M. Ishido, 1989, The Journal of biological chemistry.

Phenotype and genotype heterogeneity in Mediterranean citrullinemia.

T. Saheki, P. Briones, M. Vilaseca, 2001, Molecular genetics and metabolism.

Clinical, biochemical and ultrastructural study on the pathogenesis of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

T. Saheki, K. Takeshita, S. Takashima, 1988, Brain and Development.

A novel point mutation of the EDA gene in a Japanese family with anhidrotic ectodermal dysplasia.

T. Saheki, K. Kobayashi, T. Kanzaki, 1998, The Journal of investigative dermatology.

Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase

Hanneke J T Kwast, R. D. De Abreu, T. Saheki, 2003, Annals of clinical biochemistry.

Animal model of systemic carnitine deficiency: analysis in C3H-H-2 degrees strain of mouse associated with juvenile visceral steatosis.

T. Saheki, S. Kawata, T. Koizumi, 1991, Biochemical and biophysical research communications.

Simultaneous detection of mutant gene and transgene in ornithine carbamoyltransferase-deficient spf-ash mice with rat OCT gene

T. Saheki, T. Shimada, M. Horiuchi, 1992, Journal of Inherited Metabolic Disease.

Molecular cloning of cDNAs for argininosuccinate lyase and arginase of rat liver

T. Saheki, T. Kuzumi, M. Mori, 1986, Journal of Inherited Metabolic Disease.

Serotonin- and catecholamine-related substances in the brain of ornithine transcarbamylase-deficient Sparse-fur mice in the hyperammonemic state: comparison of two procedures for obtaining brain extract, decapitation and microwave irradiation.

T. Saheki, T. Noda, T. Shimizu, 1989, Biochemical medicine and metabolic biology.

Transient hyperammonemia during aging in ornithine transcarbamylase-deficient, sparse-fur mice.

T. Saheki, T. Gushiken, N. Yoshimura, 1985, Biochemistry international.

Analysis of regulatory factors for urea synthesis by isolated perfused rat liver. I. Urea synthesis with ammonia and glutamine as nitrogen sources.

T. Saheki, N. Katunuma, 1975, Journal of biochemistry.

Recovery from marked altered consciousness in a patient with adult-onset type II citrullinemia diagnosed by DNA analysis and treated with a living related partial liver transplantation.

T. Saheki, Keiko Kobayashi, H. Fukunaga, 2002, Internal medicine.

Mechanism and Regulation of Proteolytic Processes in Yeast

T. Saheki, H. Holzer, 1976 .

Deficiency of the mitochondrial transporter of aspartate/glutamate aralar/AGC1 causes hypomyelination and neuronal defects unrelated to myelin deficits in mouse brain

T. Saheki, J. Satrústegui, A. del Arco, 2011, Journal of neuroscience research.

Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver

T. Saheki, E. Calvo, J. Vázquez, 2023, Molecular genetics and metabolism reports.

Studies of rat liver argininosuccinate synthetase. The presence of three forms, and their physicochemical, catalytic, and immunochemical properties.

T. Saheki, M. Tsuda, T. Katsunuma, 1979, Journal of biochemistry.

Effectiveness of carbohydrate-restricted diet and arginine granules therapy for adult-onset type II citrullinemia: a case report of siblings showing homozygous SLC25A13 mutation with and without the disease.

T. Saheki, Keiko Kobayashi, Yasushi Imamura, 2003, Hepatology research : the official journal of the Japan Society of Hepatology.

A case of type II c itrullinemia diagnosed 3 years after right lobectomy for hepatocellular carcinoma

Manabu Watanabe, T. Saheki, Keiko Kobayashi, 2004 .

Reduced carbohydrate intake in citrin-deficient subjects

T. Saheki, M. Terashi, Y. Okano, 2008, Journal of Inherited Metabolic Disease.

An autopsy case with adult onset type II citrullinemia showing myelopathy

T. Saheki, S. Ikeda, Keiko Kobayashi, 2007, Journal of Neurological Sciences.

Orthotopic liver transplantation for adult-onset type II citrullinaemia.

T. Saheki, R. Strong, H. Matsunami, 1997, Clinical transplantation.

A case of adult type citrullinemia combined with decreased carbamylphosphate synthetase activity.

T. Saheki, Keiko Kobayashi, J. Shiroko, 1995 .

Kinetic analysis of argininosuccinate synthetase in a variant form of citrullinaemia

T. Saheki, F. Endo, I. Akaboshi, 1983, Journal of Inherited Metabolic Disease.

Argininosuccinate synthetase activity in cultured skin fibroblasts of citrullinemic patients.

T. Saheki, K. Kobayashi, K. Takahashi, 1982, Clinica chimica acta; international journal of clinical chemistry.

A patient with adult-onset type II citrullinemia on long-term hemodialysis: reversal of clinical symptoms and brain MRI findings.

T. Saheki, K. Iseki, Keiko Kobayashi, 2002, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Pregnancy in a healthy woman with untreated citrullinemia

T. Saheki, Keiko Kobayashi, S. Zeesman, 2004, American journal of medical genetics. Part A.

Isolation and characterization of phage clones carrying the human argininosuccinate synthetase-like genes

T. Saheki, I. Matsuda, H. Nomiyama, 1984, Journal of Inherited Metabolic Disease.

Level of translatable messenger RNA coding for argininosuccinate synthetase in the liver of the patients with quantitative-type citrullinemia

T. Saheki, Keiko Kobayashi, S. Miura, 2004, Human Genetics.

Increased urinary excretion of argininosuccinate in type II citrullinemia.

T. Saheki, Takeshi Noda, I. Inoue, 1987, Clinica chimica acta; international journal of clinical chemistry.

Amino acid sequence of rat argininosuccinate lyase deduced from cDNA.

T. Saheki, M. Takiguchi, M. Mori, 1988, Journal of biochemistry.

Comparison of the urea cycle in conventional and germ-free mice.

T. Saheki, A. Ueda, M. Hosoya, 1980, Journal of biochemistry.

No increase of ornithine concentration in the liver of ornithine transcarbamylase-deficient spf-ash mice following intraperitoneal injection of ammonium chloride.

T. Saheki, K. Kobayashi, T. Fukushige, 1997, Contributions to nephrology.

l-Argininosuccinate modulatesl-glutamate response in acutely isolated cerebellar neurons of immature rat

Hiroyuki Nakamura, T. Saheki, S. Nakagawa, 1991, Brain Research.

Hyperammonemia in Carnitine-Deficient Adult JVS Mice Caused by Starvation

T. Saheki, Keiko Kobayashi, M. Li, 2002, Metabolic Brain Disease.

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.

S. Wakana, T. Saheki, Keiko Kobayashi, 2002, Biochimica et biophysica acta.

Primary culture of chicken hepatocytes in serum-free medium (pH 7.8) secreted albumin and transferrin for a long period in free gas exchange with atmosphere.

T. Saheki, M. Fujii, J. Kusuda, 1996, International Journal of Biochemistry and Cell Biology.

Immunocytochemical demonstration of argininosuccinate synthetase in the neuronal structures of the intestinal tract and pancreas of the Japanese monkey

T. Saheki, S. Nakagawa, H. Ichiki, 1991 .

Distribution of argininosuccinate synthetase-like immunoreactive neurons in the rat myenteric plexus: a whole mount study.

T. Saheki, S. Nakagawa, K. Nakata, 1991, Okajimas folia anatomica Japonica.

Comparison of argininosuccinate synthetase from young and old rat livers.

K. Suzuki, T. Saheki, N. Ishii, 1981, The Tokai journal of experimental and clinical medicine.

Crystallization and some properties of argininosuccinate synthase from rat liver

T. Saheki, N. Katunuma, T. Katsunuma, 1975, FEBS letters.

Enzyme-linked immunosorbent assay of serum argininosuccinate synthetase.

T. Saheki, H. Ichiki, Takeshi Noda, 1987, Clinical chemistry.

Cloning and expression in Escherichia coli of cDNA for arginase of rat liver.

T. Saheki, T. Kuzumi, M. Mori, 1986, Biochemical and biophysical research communications.

[Carnitine as a vitamin-like biofactor].

T. Saheki, 1999, Nihon rinsho. Japanese journal of clinical medicine.

[Therapeutic approaches for patients with adult-onset type II citrullinemia (CTLN2): effectiveness of treatment with low-carbohydrate diet and sodium pyruvate].

T. Saheki, S. Ikeda, Keiko Kobayashi, 2010, Rinsho shinkeigaku = Clinical neurology.

Cirrhosis in an infant heterozygous for classical citrullinaemia

T. Saheki, Keiko Kobayashi, A. Hasanoğlu, 2005 .

Correction of ornithine transcarbamylase (OTC) deficiency in spf‐ash mice by introduction of rat OTC gene

T. Saheki, M. Takiguchi, M. Mori, 1991, FEBS letters.

Normalization of hair growth in sparse fur-abnormal skin and hair (SPF-ASH) mice by introduction of the rat ornithine transcarbamylase (OTC) gene.

T. Saheki, K. Yamamura, M. Takiguchi, 1994, Journal of dermatological science.

Effects of supplementation on food intake, body weight and hepatic metabolites in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse model of human citrin deficiency.

T. Saheki, K. Yamamura, T. Kadowaki, 2012, Molecular genetics and metabolism.

Cardiac hypertrophy in juvenile visceral steatosis (jvs) mice with systemic carnitine deficiency

T. Saheki, Keiko Kobayashi, T. Koizumi, 1993, FEBS letters.

Amplifying effect for glucocorticoid actions by a new polypeptide from enteric flora.

T. Tanaka, T. Saheki, N. Katunuma, 1974, Advances in enzyme regulation.

Formation of a complex between yeast proteinases A and B.

H. Betz, T. Saheki, H. Holzer, 1975, Hoppe-Seyler's Zeitschrift fur physiologische Chemie.

Altered expression of atrial natriuretic peptide and contractile protein genes in hypertrophied ventricle of JVS mice with systemic carnitine deficiency.

T. Saheki, H. Itoh, M. Osame, 1997, Journal of molecular and cellular cardiology.

Intestinal Bacterial Flora and Urea Cycle

T. Saheki, M. Kai, S. Sawamura, 1987 .

M. Fujimiya, T. Saheki, A. Asakawa, 2009, Biochimica et biophysica acta.

Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center.

T. Saheki, Keiko Kobayashi, Jian Gong, 2011, International journal of molecular medicine.