Literature DB >> 12602510

Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency.

Takeyori Saheki1, Keiko Kobayashi, Mikio Iijima, Ikumi Nishi, Tomotsugu Yasuda, Naoki Yamaguchi, Hong Zhi Gao, Md Abdul Jalil, Laila Begum, Meng Xian Li.   

Abstract

Adult-onset type II citrullinemia (CTLN2), characterized by a liver-specific deficiency of urea cycle enzyme, argininosuccinate synthetase, is caused by mutations in SLC25A13 that encodes a calcium binding mitochondrial solute carrier protein, citrin. Citrin deficiency causes not only CTLN2 but also neonatal intrahepatic cholestasis caused by citrin deficiency at neonatal period. Moreover citrin and its isoform aralar were found to be aspartate glutamate carrier. From the viewpoint of the metabolic functions of citrin as aspartate glutamate carrier in urea synthesis and NADH shuttle, symptoms of CTLN2 and neonatal intrahepatic cholestasis caused by citrin deficiency are analyzed.

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Year:  2002        PMID： 12602510     DOI： 10.1023/a:1021961919148

Source DB:  PubMed          Journal:  Metab Brain Dis        ISSN： 0885-7490            Impact factor:   3.584


  51 in total

1.  Pathogenesis of adult-onset type II citrullinemia caused by deficiency of citrin, a mitochondrial solute carrier protein: tissue and subcellular localization of citrin.

Authors:  M Iijima; A Jalil; L Begum; T Yasuda; N Yamaguchi; M Xian Li; N Kawada; H Endou; K Kobayashi; T Saheki
Journal:  Adv Enzyme Regul       Date:  2001

2.  Citrullinemia, report of a case, with studies on antenatal diagnosis.

Authors:  F H Roerdink; W L Gouw; A Okken; J F van der Blij; G Luit-de Haan; F A Hommes; H J Huisjes
Journal:  Pediatr Res       Date:  1973-11       Impact factor: 3.756

3.  Analysis of the enzyme abnormality in eight cases of neonatal and infantile citrullinaemia in Japan.

Authors:  T Saheki; K Nakano; K Kobayashi; Y Imamura; Y Itakura; M Sase; S Hagihara; S Matuo
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

4.  Role of argininosuccinate synthetase in the regulation of urea synthesis in the rat and argininosuccinate synthetase-associated metabolic disorder in man.

Authors:  T Saheki; M Tsuda; S Takada; K Kusumi; T Katsunuma
Journal:  Adv Enzyme Regul       Date:  1980

5.  Enzymatic analysis of citrullinemia (12 cases) in Japan.

Authors:  T Saheki; A Ueda; M Hosoya; M Sase; K Nakano; T Katsunuma
Journal:  Adv Exp Med Biol       Date:  1982       Impact factor: 2.622

6.  Infantile cholestatic jaundice associated with adult-onset type II citrullinemia.

Authors:  Y Tazawa; K Kobayashi; T Ohura; D Abukawa; F Nishinomiya; Y Hosoda; M Yamashita; I Nagata; Y Kono; T Yasuda; N Yamaguchi; T Saheki
Journal:  J Pediatr       Date:  2001-05       Impact factor: 4.406

7.  Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.

Authors:  K Kobayashi; M J Jackson; D B Tick; W E O'Brien; A L Beaudet
Journal:  J Biol Chem       Date:  1990-07-05       Impact factor: 5.157

8.  A search for the primary abnormality in adult-onset type II citrullinemia.

Authors:  K Kobayashi; N Shaheen; R Kumashiro; K Tanikawa; W E O'Brien; A L Beaudet; T Saheki
Journal:  Am J Hum Genet       Date:  1993-11       Impact factor: 11.025

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

Authors:  K Kobayashi; N Shaheen; H Terazono; T Saheki
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025

10.  Argininosuccinate synthetase activity in cultured skin fibroblasts of citrullinemic patients.

Authors:  T Saheki; A Ueda; K Iizima; N Yamada; K Kobayashi; K Takahashi; T Katsunuma
Journal:  Clin Chim Acta       Date:  1982-01-05       Impact factor: 3.786
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  19 in total

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

Authors:  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:  J Inherit Metab Dis       Date:  2006-05-30       Impact factor: 4.982

2.  Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients.

Authors:  Hui Bein Chew; Lock Hock Ngu; Md Yunus Zabedah; Wee Teik Keng; Shanti Balasubramaniam; Mohd Jamil M Hanifah; Keiko Kobayashi
Journal:  J Inherit Metab Dis       Date:  2010-12-16       Impact factor: 4.982

3.  Clinical characteristics and genetic analysis of neonatal intrahepatic cholestasis caused by citrin deficiency in comparison with idiopathic neonatal cholestasis.

Authors:  Hao Liu; Chun Li; Xiaowen Li; Chaowen Yu; Xiaoyan He; Jingkun Miao
Journal:  Zhejiang Da Xue Xue Bao Yi Xue Ban       Date:  2021-08-25

4.  Physical and neuropsychological development of children with Citrin deficiency.

Authors:  Ni-Si Zhang; Zhan-Hui Zhang; Wei-Xia Lin; Meng Zhang; Bing-Xiao Li
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2021-12-15

5.  mRNA Therapy Improves Metabolic and Behavioral Abnormalities in a Murine Model of Citrin Deficiency.

Authors:  Jingsong Cao; Ding An; Mikel Galduroz; Jenny Zhuo; Shi Liang; Marianne Eybye; Andrea Frassetto; Eishi Kuroda; Aki Funahashi; Jordan Santana; Cosmin Mihai; Kerry E Benenato; E Sathyajith Kumarasinghe; Staci Sabnis; Timothy Salerno; Kimberly Coughlan; Edward J Miracco; Becca Levy; Gilles Besin; Joshua Schultz; Christine Lukacs; Lin Guey; Patrick Finn; Tatsuhiko Furukawa; Paloma H Giangrande; Takeyori Saheki; Paolo G V Martini
Journal:  Mol Ther       Date:  2019-04-23       Impact factor: 11.454

6.  The presence of 1 mM glycine in vitrification solutions protects oocyte mitochondrial homeostasis and improves blastocyst development.

Authors:  Deirdre Zander-Fox; Kara S Cashman; Michelle Lane
Journal:  J Assist Reprod Genet       Date:  2012-12-18       Impact factor: 3.412

Review 7.  Reliance of ER-mitochondrial calcium signaling on mitochondrial EF-hand Ca2+ binding proteins: Miros, MICUs, LETM1 and solute carriers.

Authors:  György Hajnóczky; David Booth; György Csordás; Valentina Debattisti; Tünde Golenár; Shamim Naghdi; Nima Niknejad; Melanie Paillard; Erin L Seifert; David Weaver
Journal:  Curr Opin Cell Biol       Date:  2014-07-10       Impact factor: 8.382

8.  Overexpression of the peroxin Pex34p suppresses impaired acetate utilization in yeast lacking the mitochondrial aspartate/glutamate carrier Agc1p.

Authors:  Chalongchai Chalermwat; Thitipa Thosapornvichai; Parith Wongkittichote; John D Phillips; James E Cox; Amornrat N Jensen; Duangrurdee Wattanasirichaigoon; Laran T Jensen
Journal:  FEMS Yeast Res       Date:  2019-12-01       Impact factor: 2.796

9.  Cytosolic Aspartate Availability Determines Cell Survival When Glutamine Is Limiting.

Authors:  H Furkan Alkan; Katharina E Walter; Alba Luengo; Corina T Madreiter-Sokolowski; Sarah Stryeck; Allison N Lau; Wael Al-Zoughbi; Caroline A Lewis; Craig J Thomas; Gerald Hoefler; Wolfgang F Graier; Tobias Madl; Matthew G Vander Heiden; Juliane G Bogner-Strauss
Journal:  Cell Metab       Date:  2018-08-16       Impact factor: 31.373

Review 10.  Nutrition in Chronic Liver Disease: Consensus Statement of the Indian National Association for Study of the Liver.

Authors:  Pankaj Puri; Radha K Dhiman; Sunil Taneja; Puneeta Tandon; Manuela Merli; Anil C Anand; Anil Arora; Subrat K Acharya; Jaya Benjamin; Yogesh K Chawla; Sunil Dadhich; Ajay Duseja; C E Eapan; Amit Goel; Naveen Kalra; Dharmesh Kapoor; Ashish Kumar; Kaushal Madan; Aabha Nagral; Gaurav Pandey; Padaki N Rao; Sanjiv Saigal; Neeraj Saraf; Vivek A Saraswat; Anoop Saraya; Shiv K Sarin; Praveen Sharma; Akash Shukla; Sandeep S Sidhu; Namrata Singh; Shivaram P Singh; Anshu Srivastava; Manav Wadhawan
Journal:  J Clin Exp Hepatol       Date:  2020-10-01
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