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1

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

Nakajima, Masako, Ishii, Shougo, Mito, Takashi, Takeshita, Kenzo, Takashima, Sachio, Takakura, Hiroki, Inoue, Itsuro, Saheki, Takeyori, Akiyoshi, Hideo, Ichihara, Keiichi

Journal:

Brain and Development

Year:

1988

Language:

english

File:

PDF, 3.38 MB

english, 1988

2

Mutations and DNA diagnoses of classical citrullinemia

Hiroshige Kakinoki, Keiko Kobayashi, Hiroki Terazono, Yukihiro Nagata, Takeyori Saheki

Journal:

Year:

1997

Language:

english

File:

PDF, 250 KB

english, 1997

3

Brain glutamine synthesis requires neuronal-born aspartate as amino donor for glial glutamate formation

Pardo, Beatriz, Rodrigues, Tiago B, Contreras, Laura, Garzón, Miguel, Llorente-Folch, Irene, Kobayashi, Keiko, Saheki, Takeyori, Cerdan, Sebastian, Satrústegui, Jorgina

Journal:

Journal of Cerebral Blood Flow and Metabolism

Year:

2010

Language:

english

File:

PDF, 709 KB

english, 2010

4

An autopsy case with adult onset type II citrullinemia showing myelopathy

Ko-ichi Tazawa, Yasuhiro Shimojima, Tomomi Okano, Masahide Yazaki, Yo-ichi Takei, Hisashi Shimojo, Keiko Kobayashi, Takeyori Saheki, Shu-ichi Ikeda

Journal:

Journal of the Neurological Sciences

Year:

2007

Language:

english

File:

PDF, 476 KB

english, 2007

5

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

G. Ronald Jenkins, William H. Tolleson, D. Keith Newkirk, Dean W. Roberts, Kenneth L. Rowland, Takeyori Saheki, Keiko Kobayashi, Paul C. Howard, William B. Melchoir Jr.

Journal:

Journal of Biochemical and Molecular Toxicology

Year:

2000

Language:

english

File:

PDF, 144 KB

english, 2000

6

Pregnancy in a healthy woman with untreated citrullinemia

Murray A. Potter, Susan Zeesman, Barbara Brennan, Keiko Kobayashi, Hong-Zhi Gao, Ayako Tabata, Takeyori Saheki, Donald T. Whelan

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 80 KB

english, 2004

7

Immunocytochemical localization of argininosuccinate synthetase in the rat brain

Dr. Hiroyuki Nakamura, Takeyori Saheki, Hitoshi Ichiki, Kimihiko Nakata, Shiro Nakagawa

Journal:

The Journal of Comparative Neurology

Year:

1991

Language:

english

File:

PDF, 3.58 MB

english, 1991

8

Orthotopic liver transplantation for urea cycle enzyme deficiency

Satoru Todo, Thomas E. Starzl, Andreas Tzakis, Keith J. Benkov, Frantisek Kalousek, Takeyori Saheki, Kyuichi Tanikawa, Wayne A. Fenton

Journal:

Year:

1992

Language:

english

File:

PDF, 418 KB

english, 1992

9

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

Naoki Yamaguchi, Keiko Kobayashi, Tomotsugu Yasuda, Ikumi Nishi, Mikio Iijima, Masanori Nakagawa, Mitsuhiro Osame, Ikuko Kondo, Takeyori Saheki

Journal:

Year:

2002

Language:

english

File:

PDF, 539 KB

english, 2002

10

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

Dr. Mitsunobu Shimadzu, Hiroshi Matsumoto, Toshinobu Matsuura, Keiko Kobayashi, Satoru Komaki, Kohji Kiwaki, Ryuuji Hoshide, Fumio Endo, Takeyori Saheki, Ichiro Matsuda

Journal:

Year:

1998

Language:

english

File:

PDF, 262 KB

english, 1998

11

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

Jorgina Satrústegui, Laura Contreras, Milagros Ramos, Patricia Marmol, Araceli del Arco, Takeyori Saheki, Beatriz Pardo

Journal:

Journal of Neuroscience Research

Year:

2007

Language:

english

File:

PDF, 166 KB

english, 2007

12

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

Laura Contreras, Almudena Urbieta, Keiko Kobayashi, Takeyori Saheki, Jorgina Satrústegui

Journal:

Journal of Neuroscience Research

Year:

2010

Language:

english

File:

PDF, 807 KB

english, 2010

13

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

Milagros Ramos, Beatriz Pardo, Irene Llorente-Folch, Takeyori Saheki, Araceli del Arco, Jorgina Satrústegui

Journal:

Journal of Neuroscience Research

Year:

2011

Language:

english

File:

PDF, 3.03 MB

english, 2011

14

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

Masahide Yazaki, Yasuhiko Hashikura, Yo-ichi Takei, Toshihiko Ikegami, Shin-ichi Miyagawa, Kanji Yamamoto, Takahiko Tokuda, Keiko Kobayashi, Takeyori Saheki, Shu-ichi Ikeda

Journal:

Liver Transplantation

Year:

2004

Language:

english

File:

PDF, 90 KB

english, 2004

15

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

Tateo Kuno, Sumio Miyazaki, Ituro Inoue, Takeyori Saheki

Journal:

Clinical Biochemistry

Year:

1990

Language:

english

File:

PDF, 423 KB

english, 1990

16

A possible mechanism of neonatal intrahepatic cholestasis caused by citrin deficiency

Yusaku Tazawa, Daiki Abukawa, Osamu Sakamoto, Ikuo Nagata, Jun Murakami, Toshiyuki Iizuka, Manabu Okamoto, Akihiko Kimura, Takao Kurosawa, Kazuie Iinuma, Keiko Kobayashi, Takeyori Saheki, Toshihiro Oh

Journal:

Hepatology Research

Year:

2005

Language:

english

File:

PDF, 74 KB

english, 2005

17

Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate–glutamate carrier

Takeyori Saheki, Keiko Kobayashi, Mikio Iijima, Mitsuaki Moriyama, Masahide Yazaki, Yo-ichi Takei, Shu-ichi Ikeda

Journal:

Hepatology Research

Year:

2005

Language:

english

File:

PDF, 240 KB

english, 2005

18

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

Yasushi Imamura, Keiko Kobayashi, Toshihiko Shibatou, Sachiko Aburada, Kenji Tahara, Osamu Kubozono, Takeyori Saheki

Journal:

Hepatology Research

Year:

2003

Language:

english

File:

PDF, 220 KB

english, 2003

19

A Novel Point Mutation in the Keratin 17 Gene in a Japanese Case of Pachyonychia Congenita Type 2

Hashiguchi, Takaki, Yotsumoto, Shinichi, Shimada, Hidehiko, Terasaki, Kenjiro, Kanzaki, Tamotsu, Setoyama, Mitsuru, Kobayashi, Keiko, Saheki, Takeyori

Journal:

The Journal of Investigative Dermatology

Year:

2002

Language:

english

File:

PDF, 132 KB

english, 2002

20

A Novel Point Mutation of the EDA Gene in a Japanese Family with Anhidrotic Ectodermal Dysplasia

Yotsumoto, Shinichi, Fukumaru, Seita, Matsushita, Shigeto, Oku, Takeshi, Kobayashi, Keiko, Saheki, Takeyori, Kanzaki, Tamotsu

Journal:

The Journal of Investigative Dermatology

Year:

1998

Language:

english

File:

PDF, 140 KB

english, 1998

21

A Novel Point Mutation Affecting the Tyrosine Kinase Domain of the TRKA Gene in a Family with Congenital Insensitivity to Pain with Anhidrosis

Yotsumoto, Shinichi, Setoyama, Mitsuru, Hozumi, Hideki, Mizoguchi, Shimako, Fukumaru, Seita, Kobayashi, Keiko, Saheki, Takeyori, Kanzaki, Tamotsu

Journal:

The Journal of Investigative Dermatology

Year:

1999

Language:

english

File:

PDF, 228 KB

english, 1999

22

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

Tsutomu Aoshima, Mitsuharu Kajita, Yoshitaka Sekido, Shunji Mimura, Atsuo Itakura, Izumi Yasuda, Takeyori Saheki, Kazuyoshi Watanabe, Kaoru Shimokata, Toshimitsu Niwa

Journal:

Prenatal Diagnosis

Year:

2001

Language:

english

File:

PDF, 70 KB

english, 2001

23

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

Keiko Kobayashi, Hiroshige Kakinoki, Tomoko Fukushige, Nazma Shaheen, Hiroki Terazono, Takeyori Saheki

Journal:

Year:

1995

Language:

english

File:

PDF, 1.41 MB

english, 1995

24

Structure of an abnormal messenger RNA for argininosuccinate synthetase in citrullinemia

Keiko Kobayashi, Hitoshi Ichiki, Takeyori Saheki, Michiko Tatsuno, Chuzo Uchiyama, Osamu Nukada, Tadao Yoda

Journal:

Year:

1987

Language:

english

File:

PDF, 886 KB

english, 1987

25

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

Mariko Sase, Keiko Kobayashi, Yasushi Imamura, Takeyori Saheki, Kyoko Nakano, Satoshi Miura, Masataka Mori

Journal:

Year:

1985

Language:

english

File:

PDF, 765 KB

english, 1985

26

Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhood

Momoko Hachisu, Yoichiro Oda, Masahiro Goto, Keiko Kobayashi, Takeyori Saheki, Toshihiro Ohura, Seiji Noma, Sachiko Kitanaka

Journal:

European Journal of Pediatrics

Year:

2005

Language:

english

File:

PDF, 167 KB

english, 2005

27

Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia

Tomotsugu Yasuda, Naoki Yamaguchi, Keiko Kobayashi, Ikumi Nishi, Hidehito Horinouchi, Md. Abdul Jalil, Meng Xian Li, Miharu Ushikai, Mikio Iijima, Ikuko Kondo, Takeyori Saheki

Journal:

Year:

2000

Language:

english

File:

PDF, 1.35 MB

english, 2000

28

Neonatal presentation of adult-onset type

Toshihiro Ohura, Keiko Kobayashi, Yusaku Tazawa, Ikumi Nishi, Daiki Abukawa, Osamu Sakamoto, Kazuie Iinuma, Takeyori Saheki

Journal:

Year:

2001

Language:

english

File:

PDF, 42 KB

english, 2001

29

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

Shun Ito, Gotaro Kurasawa, Kyoko Yamamoto, Izumi Furuta, Fumitake Ishihara, Keiko Kobayashi, Takeyori Saheki, Tomokazu Matsuura, Masayoshi Yamauchi, Hiroshige Kakinoki

Journal:

Journal of Gastroenterology

Year:

2004

Language:

english

File:

PDF, 433 KB

english, 2004

30

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

Hai-Yan Fu, Shao-Ren Zhang, Xiao-Hong Wang, Takeyori Saheki, Keiko Kobayashi, Jian-She Wang

Journal:

Journal of Gastroenterology

Year:

2011

Language:

english

File:

PDF, 292 KB

english, 2011

31

Identification of 13 novel mutations including a retrotransposal insertion inSLC25A13gene and frequency of 30 mutations found in patients with citrin deficiency

Ayako Tabata, Jian-Sheng Sheng, Miharu Ushikai, Yuan-Zong Song, Hong-Zhi Gao, Yao-Bang Lu, Fumihiko Okumura, Mikio Iijima, Kozo Mutoh, Shosei Kishida, Takeyori Saheki, Keiko Kobayashi

Journal:

Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.51 MB

english, 2008

32

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

Ni-Chung Lee, Yin-Hsiu Chien, Keiko Kobayashi, Takeyori Saheki, Huey-Ling Chen, Pao-Chin Chiu, Yen-Hsuan Ni, Mei-Hwei Chang, Wuh-Liang Hwu

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 252 KB

english, 2006

33

Clearance of argininosuccinate synthetase from the circulation in acute liver disease

Takeyori Saheki, Kazuhiro Komorizono, Tsutomu Miura, Hitoshi Ichiki, Yukio Yagi, Shuji Hashimoto

Journal:

Clinical Biochemistry

Year:

1990

Language:

english

File:

PDF, 269 KB

english, 1990

34

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

Yoshihisa Umekita, Keiko Kobayashi, Takeyori Saheki, Hiroki Yoshida

Journal:

Year:

1994

File:

PDF, 449 KB

1994

35

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

Ryo Terada, Kazuhide Yamamoto, Keiko Kobayashi, Kohsaku Sakaguchi, Yoshiaki Iwasaki, Takeyori Saheki, Yasushi Shiratori

Journal:

Journal of Gastroenterology and Hepatology

Year:

2006

Language:

english

File:

PDF, 76 KB

english, 2006

36

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

Takeyori Saheki, Keiko Kobayashi, Mikio Iijima, Ikumi Nishi, Tomotsugu Yasuda, Naoki Yamaguchi, Hong Zhi Gao, Md. Abdul Jalil, Laila Begum, Meng Xian Li

Journal:

Metabolic Brain Disease

Year:

2002

Language:

english

File:

PDF, 102 KB

english, 2002

37

Hyperammonemia in Carnitine-Deficient Adult JVS Mice Caused by Starvation

Meng Xian Li, Keiko Kobayashi, Masahisa Horiuchi, Md. Abdul Jalil, Goichiro Yoshida, Takeyori Saheki

Journal:

Metabolic Brain Disease

Year:

2002

Language:

english

File:

PDF, 70 KB

english, 2002

38

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

Masahisa Horiuchi, Keiko Kobayashi, Mina Masuda, Hiroki Terazono, Takeyori Saheki

Journal:

Year:

1999

Language:

english

File:

PDF, 117 KB

english, 1999

39

Genomic organization and mapping of mouseCDV(carnitine deficiency-associated gene expressed in ventricle)-1and its relatedCDV-1Rgene

Mikiko Higashi, Keiko Kobayashi, Mikio Iijima, Shigeharu Wakana, Masahisa Horiuchi, Tomotsugu Yasuda, Goichiro Yoshida, Yuichi Kanmura, Takeyori Saheki

Journal:

Mammalian Genome

Year:

2000

Language:

english

File:

PDF, 310 KB

english, 2000

40

Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation

Tamamori, Akiko, Okano, Yoshiyuki, Ozaki, Hajime, Fujimoto, Akie, Kajiwara, Masue, Fukuda, Kazuyoshi, Kobayashi, Keiko, Saheki, Takeyori, Tagami, Yasuko, Yamano, Tsunekazu

Journal:

European Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 288 KB

english, 2002

41

Effect of Ornithine concentration on citrulline synthesis in mouse liver mitochondria

Ituro Inoue, Kosei Yoshimine, Takeyori Saheki

Journal:

Biochemical Medicine and Metabolic Biology

Year:

1990

Language:

english

File:

PDF, 498 KB

english, 1990

42

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

Ituro Inoue, Takao Shimizu, Takeyori Saheki, Takashi Noda, Takeo Fukuda

Journal:

Biochemical Medicine and Metabolic Biology

Year:

1989

Language:

english

File:

PDF, 494 KB

english, 1989

43

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

Milagros Ramos, Araceli del Arco, Beatriz Pardo, Alberto Martı́nez-Serrano, Juan Ramón Martı́nez-Morales, Keiko Kobayashi, Tomotsugu Yasuda, Elena Bogónez, Paola Bovolenta, Takeyori Saheki, Jorgina Sa

Journal:

Developmental Brain Research

Year:

2003

Language:

english

File:

PDF, 1.88 MB

english, 2003

44

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

Laila Begum, Md.Abdul Jalil, Keiko Kobayashi, Mikio Iijima, Meng Xian Li, Tomotsugu Yasuda, Masahisa Horiuchi, Araceli del Arco, Jorgina Satrústegui, Takeyori Saheki

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Year:

2002

Language:

english

File:

PDF, 564 KB

english, 2002

45

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

Seita Fukumaru, Masahisa Horiuchi, Keiko Kobayashi, Md.Abdul Jalil, Mikio Iijima, Mina Masuda, Laila Begum, Mikiko Higashi, Shigeharu Wakana, Tamotsu Kanzaki, Takeyori Saheki

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Year:

2002

Language:

english

File:

PDF, 383 KB

english, 2002

46

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

Saori Oshiro, Tutomu Kochinda, Takeshi Tana, Masanobu Yamazato, Keiko Kobayashi, Yukihiro Komine, Hiromi Muratani, Takeyori Saheki, Kunitoshi Iseki, Shuichi Takishita

Journal:

American Journal of Kidney Diseases

Year:

2002

Language:

english

File:

PDF, 546 KB

english, 2002

47

Cirrhosis in an infant heterozygous for classical citrullinaemia

Fatih Süheyl Ezgü, Leyla Tümer, Buket Dalgiç, Alev Hasanoĝlu, Keiko Kobayashi, Takeyori Saheki

Journal:

Acta Paediatrica

Year:

2005

Language:

english

File:

PDF, 72 KB

english, 2005

48

Comparisons of the Tryptophan Synthase Inactivating Enzymes with Proteinases from Yeast

Takeyori Saheki, Helmut Holzer

Journal:

Year:

1974

Language:

english

File:

PDF, 574 KB

english, 1974

49

Purification and Characterization of Macromolecular Inhibitors of Proteinase A from Yeast

Takeyori SAHEKI, Yoshiko MATSUDA, Helmut HOLZER

Journal:

Year:

1974

Language:

english

File:

PDF, 826 KB

english, 1974

50

Genomic Structure of the Adult-Onset Type II Citrullinemia Gene, SLC25A13, and Cloning and Expression of Its Mouse Homologue

David S. Sinasac, Michael A. Crackower, Jeffrey R. Lee, Keiko Kobayashi, Takeyori Saheki, Stephen W. Scherer, Lap-Chee Tsui

Journal:

Year:

1999

Language:

english

File:

PDF, 128 KB

english, 1999

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