SLC25A13

Summary

Gene Symbol: SLC25A13
Description: solute carrier family 25 (aspartate/glutamate carrier), member 13
Alias: ARALAR2, CITRIN, CTLN2, calcium-binding mitochondrial carrier protein Aralar2, mitochondrial aspartate glutamate carrier 2, solute carrier family 25, member 13 (citrin)
Species: human

Top Publications

  1. pmc Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues
    A Del Arco
    Departamento de Biologia Molecular, Centro de Biologia Molecular Severo Ochoa, Campus de Cantoblanco, 28049 Madrid, Spain
    Biochem J 345:725-32. 2000
  2. ncbi Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency
    Yao Bang Lu
    Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, 8 35 1 Sakuragaoka, Kagoshima 890 8544, Japan
    J Hum Genet 50:338-46. 2005
  3. ncbi Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation
    Akiko Tamamori
    Department of Paediatrics, Fujiidera City Hospital, Fujiidera, Japan
    Eur J Pediatr 161:609-13. 2002
  4. pmc Most common SLC25A13 mutation in 400 Chinese infants with intrahepatic cholestasis
    Hai Yan Fu
    Center for Pediatric Liver Diseases, Children s Hospital of Fudan University, 399 Wanyuan Road, Minhang District, Shanghai 201102, China
    World J Gastroenterol 16:2278-82. 2010
  5. doi [Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency]
    Ya zhi Xing
    Department of Pediatric Endocrinology, Genetic and Metabolic Diseases, Shanghai Institute of Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 27:180-5. 2010
  6. ncbi Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)
    Takeyori Saheki
    Department of Biochemistry, Faculty of Medicine, Kagoshima University, 8 35 1 Sakuragaoka, Kagoshima 890 8520, Japan
    J Hum Genet 47:333-41. 2002
  7. doi Citrin deficiency, a perplexing global disorder
    David Dimmock
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, BCM225, Houston, TX 77030, USA
    Mol Genet Metab 96:44-9. 2009
  8. ncbi Novel diagnostic approach to citrin deficiency: analysis of citrin protein in lymphocytes
    Daisuke Tokuhara
    Department of Pediatrics, Osaka City University Graduate School of Medicine, 1 4 3 Asahimachi, Abenoku, Osaka 545 8585, Japan
    Mol Genet Metab 90:30-6. 2007
  9. ncbi Neonatal presentation of adult-onset type II citrullinemia
    T Ohura
    Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan
    Hum Genet 108:87-90. 2001
  10. ncbi The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein
    K Kobayashi
    Department of Biochemistry, Faculty of Medicine, Kagoshima University, Japan
    Nat Genet 22:159-63. 1999

Research Grants

Scientific Experts

Detail Information

Publications115 found, 100 shown here

  1. pmc Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues
    A Del Arco
    Departamento de Biologia Molecular, Centro de Biologia Molecular Severo Ochoa, Campus de Cantoblanco, 28049 Madrid, Spain
    Biochem J 345:725-32. 2000
    ..We have now cloned a second human ARALAR gene (ARALAR2) coding for a protein 78.3% identical to Aralar1, but expressed in liver and non-excitable tissues...
  2. ncbi Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency
    Yao Bang Lu
    Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, 8 35 1 Sakuragaoka, Kagoshima 890 8544, Japan
    J Hum Genet 50:338-46. 2005
    Deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier (AGC), encoded by the SLC25A13 gene on chromosome 7q21...
  3. ncbi Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation
    Akiko Tamamori
    Department of Paediatrics, Fujiidera City Hospital, Fujiidera, Japan
    Eur J Pediatr 161:609-13. 2002
    Adult-onset type 2 citrullinaemia (CTLN2) is caused by a deficiency of the citrin protein encoded by the SLC25A13 gene. Citrin, an aspartate glutamate carrier in mitochondria, is an essential component of the malate-aspartate NADH shuttle...
  4. pmc Most common SLC25A13 mutation in 400 Chinese infants with intrahepatic cholestasis
    Hai Yan Fu
    Center for Pediatric Liver Diseases, Children s Hospital of Fudan University, 399 Wanyuan Road, Minhang District, Shanghai 201102, China
    World J Gastroenterol 16:2278-82. 2010
    To establish the real time fluorescence polymerase chain reaction (RT-PCR) with dual labeled probes for fast detection of SLC25A13 gene mutation 851del4.
  5. doi [Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency]
    Ya zhi Xing
    Department of Pediatric Endocrinology, Genetic and Metabolic Diseases, Shanghai Institute of Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 27:180-5. 2010
    To investigate the clinical and laboratory features of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and to characterize the molecular basis and prognosis of this disease.
  6. ncbi Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)
    Takeyori Saheki
    Department of Biochemistry, Faculty of Medicine, Kagoshima University, 8 35 1 Sakuragaoka, Kagoshima 890 8520, Japan
    J Hum Genet 47:333-41. 2002
    ..positional cloning, we have shown that adult-onset type II citrullinemia (CTLN2) is caused by mutations of the SLC25A13 gene, which is localized on chromosome 7q21.3 and encodes a mitochondrial solute carrier protein named citrin...
  7. doi Citrin deficiency, a perplexing global disorder
    David Dimmock
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, BCM225, Houston, TX 77030, USA
    Mol Genet Metab 96:44-9. 2009
    Citrin deficiency, caused by mutations in SLC25A13, can present with neonatal intrahepatic cholestasis or with adult onset neuropsychiatric, hepatic and pancreatic disease...
  8. ncbi Novel diagnostic approach to citrin deficiency: analysis of citrin protein in lymphocytes
    Daisuke Tokuhara
    Department of Pediatrics, Osaka City University Graduate School of Medicine, 1 4 3 Asahimachi, Abenoku, Osaka 545 8585, Japan
    Mol Genet Metab 90:30-6. 2007
    b>Citrin deficiency induces two clinical features; namely neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and adult-onset type II citrullinemia...
  9. ncbi Neonatal presentation of adult-onset type II citrullinemia
    T Ohura
    Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan
    Hum Genet 108:87-90. 2001
    ..argininosuccinate synthetase deficiency caused by a deficiency of the citrin protein encoded by the SLC25A13 gene. Until now, however, no SLC25A13 mutations have been reported in children with liver diseases...
  10. ncbi The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein
    K Kobayashi
    Department of Biochemistry, Faculty of Medicine, Kagoshima University, Japan
    Nat Genet 22:159-63. 1999
    ..Using positional cloning we identified a novel gene, SLC25A13, and found five different DNA sequence alterations that account for mutations in all consanguineous patients ..
  11. doi Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency
    Ayako Tabata
    Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, 8 35 1 Sakuragaoka, Kagoshima 890 8544, Japan
    J Hum Genet 53:534-45. 2008
    ..mitochondrial aspartate-glutamate carrier, is an autosomal recessive disorder caused by mutations of the SLC25A13 gene on chromosome 7q21...
  12. pmc Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria
    L Palmieri
    Department of Pharmaco Biology, University of Bari, Via Orabona 4, 70125 Bari, Italy
    EMBO J 20:5060-9. 2001
    ..b>Citrin and aralar1 are homologous proteins belonging to the mitochondrial carrier family with EF-hand Ca(2+)-binding ..
  13. ncbi [A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency]
    Yuan Zong Song
    Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510632, China
    Zhongguo Dang Dai Er Ke Za Zhi 8:125-8. 2006
    ..This paper reported a case of NICCD confirmed by mutation analysis of SLC25A13, the gene encoding citrin...
  14. ncbi Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1)
    Johannes Haberle
    Universitatsklinikum Munster, Klinik und Poliklinik für Kinderheilkunde, Albert Schweitzer Strasse 33, D 48149 Munster, Germany
    Mol Genet Metab 80:302-6. 2003
    ..is caused by either deficiency of argininosuccinate synthetase (ASS, citrullinemia type 1) or a defect of the SLC25A13 gene encoding a mitochondrial aspartate-glutamate transporter (citrullinemia type II)...
  15. pmc Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia
    David S Sinasac
    Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8
    Mol Cell Biol 24:527-36. 2004
    Adult-onset type II citrullinemia (CTLN2) is an autosomal recessive disease caused by mutations in SLC25A13, the gene encoding the mitochondrial aspartate/glutamate carrier citrin...
  16. ncbi [Adult-onset citrullinemia]
    Shu Ichi Ikeda
    Department of Internal Medicine Neurology and Rheumatology, Shinshu University School of Medicine, Matsumoto, Japan
    Brain Nerve 59:59-66. 2007
    ..had not been found within ASS gene locus, but the causative gene of this disorder is now identified as the "citrin gene", which might act as a aspartate/glutamate transporter in mitochondria...
  17. pmc Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants
    Jae Sung Ko
    Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea
    J Korean Med Sci 22:952-6. 2007
    Citrin is a liver-type mitochondrial aspartate-glutamate carrier encoded by the SLC25A13 gene, and its deficiency causes adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)...
  18. ncbi Conventional diet therapy for hyperammonemia is risky in the treatment of hepatic encephalopathy associated with citrin deficiency
    Kazuhiro Fukushima
    The Third Department of Medicine Neurology and Rheumatology, Shinshu University School of Medicine, Matsumoto
    Intern Med 49:243-7. 2010
    Citrin deficiency caused by SLC25A13 gene mutations develops into adult-onset type II citrullinemia (CTLN2) presenting with hepatic encephalopathy...
  19. ncbi Correlation between myocardial malate/aspartate shuttle activity and EAAT1 protein expression in hyper- and hypothyroidism
    J Carter Ralphe
    Department of Pediatrics, Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA
    Am J Physiol Heart Circ Physiol 288:H2521-6. 2005
    ..Steady-state mRNA levels of EAAT1 and aralar1 and citrin (both cardiac mitochondrial aspartate-glutamate transporters) were determined by Northern blot analysis and ..
  20. ncbi [Progresses and perspectives in the study on citrin deficiency]
    Yao Bang Lu
    Department of Biotechnology, Pharmacy College, Hunan University of Traditional Chinese Medicine, Changsha, Hunan, 410007, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 23:655-8. 2006
    ..The responsive gene of citrin deficiency, SLC25A13, locates on chromosome 7q21.3 and encodes citrin as a liver-type mitochondrial aspartate/glutamate carrier (AGC)...
  21. doi Primary liver carcinoma exhibiting dual hepatocellular-biliary epithelial differentiations associated with citrin deficiency: a case report
    Junpei Soeda
    Department of Surgery, Shinshu University School of Medicine, Matsumoto, Japan
    J Clin Gastroenterol 42:855-60. 2008
    ..primary liver carcinoma exhibiting dual hepatocellular and biliary epithelial differentiations associated with citrin deficiency (asymptomatic adult-onset type II citrullinemia, CTLN2)...
  22. ncbi An autopsy case with adult onset type II citrullinemia showing myelopathy
    Ko ichi Tazawa
    Department of Internal Medicine Neurology, Shinshu University School of Medicine 3 1 1 Asahi, Matsumoto 390 8621, Japan
    J Neurol Sci 253:77-80. 2007
    ..A 31-year-old man who was diagnosed as having adult-onset type II citrullinemia (CTLN2) and had a six-year history of recurrent hepatic encephalopathy showed progressive spastic paraparesis with no ..
  23. ncbi Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations
    Keiko Kobayashi
    Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University, Graduate School of Medical and Dental Sciences, 8 35 1 Sakuragaoka, Kagoshima 890 8520, Japan
    Mol Genet Metab 80:356-9. 2003
    Deficiency of citrin encoded by SLC25A13 causes adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). So far we have diagnosed 126 (3) CTLN2 and 103 (4) NICCD patients in Japan (and other countries)...
  24. ncbi Expression of the aspartate/glutamate mitochondrial carriers aralar1 and citrin during development and in adult rat tissues
    Araceli del Arco
    Departamento de Biologia Molecular, Centro de Biologia Molecular Severo Ochoa, Universidad Autonoma de Madrid, 28049 Madrid, Spain
    Eur J Biochem 269:3313-20. 2002
    Aralar1 and citrin are members of the subfamily of calcium-binding mitochondrial carriers and correspond to two isoforms of the mitochondrial aspartate/glutamate carrier (AGC)...
  25. ncbi Neonatal intrahepatic cholestasis caused by citrin deficiency in two Malaysian siblings: outcome at one year of life
    M K Thong
    Genetics and Metabolism Unit, Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur 50603, Malaysia
    Singapore Med J 51:e12-4. 2010
    ..Mutation study of the SLC25A13 gene showed the compound heterozygotes, 851del4 and IVS16ins3kb, which confirmed the diagnosis of NICCD in the ..
  26. ncbi Ca2+ Activation kinetics of the two aspartate-glutamate mitochondrial carriers, aralar and citrin: role in the heart malate-aspartate NADH shuttle
    Laura Contreras
    Departamento de Biologia Molecular, Universidad Autonoma de Madrid, C S I C, 28049 Madrid, Spain
    J Biol Chem 282:7098-106. 2007
    ..The two mammalian AGCs, aralar and citrin, are members of the malate-aspartate NADH shuttle...
  27. doi Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency
    Francois Feillet
    Centre de Référence des Maladies Héréditaires du Métabolisme et Inserm U724, CHU et Faculté de Médecine de Nancy, France
    J Hepatol 48:517-22. 2008
    ..High citrulline (293 micromol/L), on initial plasma amino acid, suggested the diagnosis of citrin deficiency...
  28. ncbi Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency
    Akihiko Kimura
    Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi Machi, Kurume 830 0011, Japan
    Hepatol Res 40:295-303. 2010
    ..deficiency (NICCD), we studied specimens from 30 patients diagnosed with NICCD by genetically analyzing the SLC25A13 gene. Methods: Liver biopsy specimens were subjected to hematoxylin-eosin, Azan, and Berlin-blue staining...
  29. ncbi Identification and metabolic role of the mitochondrial aspartate-glutamate transporter in Saccharomyces cerevisiae
    S Cavero
    Departmento Biología Molecular, Centro de Biologia Molecular Severo Ochoa, Universidad Autónoma de Madrid C S I C, Madrid, Spain
    Mol Microbiol 50:1257-69. 2003
    ..Recently, we identified in man two AGC isoforms, aralar1 and citrin, which are regulated by calcium on the external face of the inner mitochondrial membrane...
  30. ncbi A retrospective ESI-MS/MS analysis of newborn blood spots from 18 symptomatic patients with organic acid and fatty acid oxidation disorders diagnosed either in infancy or in childhood
    H Kobayashi
    Department of Paediatrics, Shimane University Faculty of Medicine, 89 1 Enya, Izumo, Shimane, 693 8501, Japan
    J Inherit Metab Dis 30:606. 2007
    ..One case each of CPT-2 deficiency and citrin deficiency could not be detected in the newborn period...
  31. ncbi The malate-aspartate NADH shuttle member Aralar1 determines glucose metabolic fate, mitochondrial activity, and insulin secretion in beta cells
    Blanca Rubi
    Department of Cell Physiology and Metabolism, University Medical Centre, 1 rue Michel Servet, CH 1211 Geneva 4, Switzerland
    J Biol Chem 279:55659-66. 2004
    ..Aralar1 and citrin are two isoforms of the mitochondrial aspartate/glutamate carrier, one key constituent of the malate-aspartate ..
  32. doi Citrin deficiency and current treatment concepts
    Takeyori Saheki
    Institute for Health Sciences, Tokushima Bunri University, Tokushima 770 8514, Japan
    Mol Genet Metab 100:S59-64. 2010
    In this paper, we describe the historical aspects of citrin and citrin deficiency, characteristic food preference and food aversion of citrin-deficient subjects, and carbohydrate toxicity in relation to ureogenesis and issues of the ..
  33. ncbi Identification of a novel human subfamily of mitochondrial carriers with calcium-binding domains
    Araceli del Arco
    Departamento de Biologia Molecular, Centro de Biologia Molecular Severo Ochoa, Facultad de Ciencias, Universidad Autonoma, 28049 Madrid, Spain
    J Biol Chem 279:24701-13. 2004
    Aralar1 and citrin were identified as calcium binding aspartate/glutamate carriers (AGC) in mitochondria...
  34. ncbi The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex
    Karin Roesch
    Department of Chemistry and Biochemistry, UCLA, Los Angeles, CA 90095 15691, USA
    Hum Mol Genet 13:2101-11. 2004
    ..We have identified a new class of substrates, citrin and aralar1, which are Ca2+-binding aspartate/glutamate carriers (AGCs) of the mitochondrial inner membrane, using ..
  35. ncbi [Citrin deficiency is an important etiology for cholestatic liver disease in children]
    Yuan Zong Song
    Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510630, China
    Zhonghua Er Ke Za Zhi 47:624-7. 2009
    To explore the major etiological features of cholestatic liver disease (CLD) in children, and to investigate the molecular epidemiological distribution of SLC25A13 mutations in CLD.
  36. ncbi Liver fibrosis in an extremely small infant for gestational age
    Hirokazu Arai
    Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan
    Tohoku J Exp Med 221:181-5. 2010
    ..We excluded congenital infection, metabolic syndrome and citrin deficiency. It is therefore conceivable that intrauterine cardiac failure may be responsible for liver fibrosis...
  37. pmc Novel variants of human SCaMC-3, an isoform of the ATP-Mg/P(i) mitochondrial carrier, generated by alternative splicing from 3'-flanking transposable elements
    Araceli del Arco
    Departamento de Biologia Molecular, Centro de Biología Molecular Severo Ochoa UAM CSIC, Facultad de Ciencias, Universidad Autonoma, 28049 Madrid, Spain
    Biochem J 389:647-55. 2005
    ..that the hydrophilic N-terminal domain also participates in the mitochondrial import process, as shown for the CaMC members aralar and citrin [Roesch, Hynds, Varga, Tranebjaerg and Koehler (2004) Hum. Mol. Genet. 13, 2101-2111].
  38. pmc Screening of SLC25A13 mutation in the Thai population
    Parith Wongkittichote
    Parith Wongkittichote, Graduate Program in Molecular Medicine, Faculty of Science, Mahidol University, Bangkok 10400, Thailand
    World J Gastroenterol 19:7735-42. 2013
    To determine the prevalence of SLC25A13 mutations in the Thai population.
  39. doi Polymorphic variants of genes related to arginine metabolism and the risk of orofacial clefts
    Kamil K Hozyasz
    Department of Paediatrics, Institute of Mother and Child, Warsaw, Poland
    Arch Oral Biol 55:861-6. 2010
    ..This study was undertaken to investigate the involvement of polymorphic variants of genes related to arginine metabolism in the susceptibility of clefting...
  40. ncbi A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency
    Toshihiro Ohura
    Department of Paediatrics, Tohoku University School of Medicine, 1 1 Seiryo machi, Aoba ku, Sendai 980 8574, Japan
    Eur J Pediatr 162:317-22. 2003
    Adult-onset type II citrullinaemia, caused by deficiency of the citrin protein encoded by the SLC25A13 gene, is characterised by a liver-specific argininosuccinate synthetase deficiency...
  41. doi First two cases of adult-onset type II citrullinemia successfully treated by deceased-donor liver transplantation in Japan
    Masahide Yazaki
    Departments of Medicine Surgery, Shinshu University School of Medicine, Nagano, Japan
    Hepatol Res 42:934-9. 2012
    We report the first two cases of adult-onset type II citrullinemia (CTLN2) successfully treated by liver transplantation from deceased donors in Japan...
  42. doi Liver transplantation versus conservative treatment for adult-onset type II citrullinemia: our experience and a review of the literature
    N Kimura
    Department of Gastroenterological Surgery, Hirosaki University Graduate School of Medicine, Hirosaki, Japan Electronic address
    Transplant Proc 45:3432-7. 2013
    Adult-onset type II citrullinemia (CTLN2), an autosomal recessive disorder caused by a mutation in the SLC25A13 gene, is characterized by increased serum citrulline and ammonia levels...
  43. doi [Clinical investigation and mutation analysis of a child with citrin deficiency complicated with purpura, convulsive seizures and methioninemia]
    Pengqiang Wen
    Shenzhen Institute of Pediatrics, Shenzhen Children s Hospital, Shenzhen, Guangdong 518026, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 30:649-53. 2013
    To analyze the clinical features and SLC25A13 gene mutations of a child with citrin deficiency complicated with purpura, convulsive seizures and methioninemia.
  44. pmc Hepatic adaptation compensates inactivation of intestinal arginine biosynthesis in suckling mice
    Vincent Marion
    Department of Anatomy and Embryology, Maastricht University, Maastricht, The Netherlands
    PLoS ONE 8:e67021. 2013
    ..expression of genes involved in arginine metabolism (Asl, Got1, Gpt2, Glud1, Arg1, and Arg2) and transport (Slc25a13, Slc25a15, and Slc3a2), whereas no such changes were found in the intestine...
  45. ncbi [SLC25A13 gene mutations in Chinese infants with intrahepatic cholestasis and abnormal blood amino acids]
    Shao Ren Zhang
    Center for Pediatric Liver Diseases of Fudan University, Children s Hospital of Fudan University, Shanghai 200032, China
    Zhonghua Gan Zang Bing Za Zhi 16:445-8. 2008
    To explore whether SLC25A13 gene mutation exists and what is its mutation spectrum in mainland Chinese infants with intrahepatic cholestasis and abnormal blood amino acids.
  46. pmc Biochemical characteristics of neonatal cholestasis induced by citrin deficiency
    Jian She Wang
    Department of Pediatrics, Jinshan Hospital, Fudan University, Shanghai, China
    World J Gastroenterol 18:5601-7. 2012
    To explore differences in biochemical indices between neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and that with other etiologies.
  47. pmc Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants
    Suporn Treepongkaruna
    Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand
    BMC Gastroenterol 12:141. 2012
    ..Mutation(s) of human SLC25A13 gene encoding a mitochondrial aspartate/glutamate carrier isoform 2 (AGC2), can lead to AGC2 deficiency, ..
  48. doi Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency
    Parith Wongkittichote
    Graduate Program in Molecular Medicine, Faculty of Science, Mahidol University, Bangkok, Thailand
    J Inherit Metab Dis 36:821-30. 2013
    ..Mutations in SLC25A13, the gene encoding AGC2, result in two age dependent disorders: neonatal intrahepatic cholestasis caused by ..
  49. pmc SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China
    Yuan Zong Song
    Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou, China
    PLoS ONE 8:e74544. 2013
    The human SLC25A13 gene encodes citrin, the liver-type mitochondrial aspartate/glutamate carrier isoform 2 (AGC2), and SLC25A13 mutations cause citrin deficiency (CD), a disease entity that encompasses different age-dependant clinical ..
  50. ncbi An elderly Japanese patient with adult-onset type II citrullinemia with a novel D493G mutation in the SLC25A13 gene
    Yoshimi Takahashi
    Department of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Faculty of Medicine, Yamagata University, Japan
    Intern Med 51:2131-4. 2012
    Mutations in the SLC25A13 gene lead to neonatal intrahepatic cholestasis caused by citrin deficiency and/or adult-onset type II citrullinemia (CTLN2). A 62-year-old man presented with recurrent episodes of neuropsychiatric manifestations...
  51. doi 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
    Takeyori Saheki
    Institute of Resource Development and Analysis, Kumamoto University, 2 2 1 Honjo, Kumamoto 860 0811, Japan
    Mol Genet Metab 107:322-9. 2012
    The C57BL/6:Slc23a13(-/-);Gpd2(-/-) double-knockout (a.k.a., citrin/mitochondrial glycerol 3-phosphate dehydrogenase double knockout or Ctrn/mGPD-KO) mouse displays phenotypic attributes of both neonatal intrahepatic cholestasis (NICCD) ..
  52. ncbi Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice
    Mitsuaki Moriyama
    Laboratory of Integrative Physiology in Veterinary Sciences, Osaka Prefecture University, 1 1 Gakuen cho, Sakai, Osaka 599 8531, Japan
    J Hepatol 44:930-8. 2006
    Mutations in SLC25A13, encoding the mitochondrial aspartate-glutamate carrier citrin, cause adult-onset type II citrullinemia (CTLN2) in humans...
  53. ncbi Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients
    Yusaku Tazawa
    Department of Pediatrics, Miyagi South Medical Center Hospital, Oogawara, Japan
    Mol Genet Metab 83:213-9. 2004
    A deficiency of citrin, which is encoded by the SLC25A13 gene, causes both adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestasis (NICCD)...
  54. ncbi Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhood
    Momoko Hachisu
    Tokyo Metropolitan Hachioji Children s Hospital, Tokyo, Japan
    Eur J Pediatr 164:109-10. 2005
  55. ncbi Application of mutation analysis for the previously uncertain cases of adult-onset type II citrullinemia (CTLN2) and their clinical profiles
    Toju Tanaka
    Department of Pediatrics, National Nishi Sapporo Hospital, Sapporo 063 0005, Japan
    Tohoku J Exp Med 198:89-97. 2002
    ..Mutation analysis of the SLC25A13 gene, which is responsible for CTLN2, provides a rapid and accurate diagnosis...
  56. ncbi Expression of three mitochondrial solute carriers, citrin, aralar1 and ornithine transporter, in relation to urea cycle in mice
    Laila Begum
    Department of Biochemistry, Faculty of Medicine, Kagoshima University, 8 35 1 Sakuragaoka, 890 8520, Kagoshima, Japan
    Biochim Biophys Acta 1574:283-92. 2002
    ..profiles of different tissues and developmental changes of mouse aspartate/glutamate carrier (AGC) genes, Slc25a13 and Slc25a12, and an ornithine transporter gene, Ornt1, in relation to urea cycle enzyme genes, ..
  57. ncbi Adult onset type II citrullinemia as a cause of non-alcoholic steatohepatitis
    Hitoshi Takagi
    Department of Medicine and Molecular Science, Graduate School of Medicine, Gunma University, Showa machi 3 39, Maebashi, Gunma 371 8511, Japan
    J Hepatol 44:236-9. 2006
    ..We demonstrated three male patients with CTLN2 having a liver histology of non-alcoholic steatohepatitis (NASH). Patients with NASH were analyzed for the causative gene of CTLN2, SLC25A13 and discussed.
  58. doi Simple and rapid analytical method for detection of amino acids in blood using blood spot on filter paper, fast-GC/MS and isotope dilution technique
    Shuichi Kawana
    Department of Pediatrics, Shimane University School of Medicine, 89 1 En ya cho, Izumo, Shimane 693 8501, Japan
    J Chromatogr B Analyt Technol Biomed Life Sci 878:3113-8. 2010
    ..PKU), maple syrup urine disease (MSUD), hypermethionine and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), and the analysis results showed that the concentrations of amino acids that characterize these ..
  59. doi The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia
    Hai Yan Fu
    The Center for Pediatric Liver Diseases, Children s Hospital of Fudan University, 399 Wanyuan Road, Minhang District, Shanghai 201102, People s Republic of China
    J Gastroenterol 46:510-8. 2011
    b>SLC25A13 gene mutations cause citrin deficiency, which leads to neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). Information on the mutation spectrum of SLC25A13 in the Chinese population is limited...
  60. ncbi Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children
    Hock Lock Ngu
    Genetics Department, Kuala Lumpur Hospital, Jalan Pahang, 50586 Kuala Lumpur, Malaysia
    Malays J Pathol 32:53-7. 2010
    ..unrelated Malay children with genetically confirmed NICCD characterised by an insertion mutation IVS16ins3kb in SLC25A13 gene...
  61. ncbi Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: clinical significance of portal vein imaging
    Y Nishimura
    Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, 1 2 3 Kasumi, Minami Ku, Hiroshima, 734 8551, Japan
    J Inherit Metab Dis 27:11-8. 2004
    ..with portovenous shunting in 2, and patent ductus venosus with hypoplasia of the intrahepatic portal vein, citrin deficiency, homozygous GALE deficiency, and heterozygous GALE deficiency in one patient each...
  62. ncbi 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
    Takeyori Saheki
    Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan
    Mol Genet Metab 81:S20-6. 2004
    ..We found that adult-onset type II citrullinemia is caused by mutations in the SLC25A13 gene that encodes for citrin...
  63. pmc Polyembryony in Citrus. Accumulation of seed storage proteins in seeds and in embryos cultured in vitro
    A M Koltunow
    Division of Horticulture, Commonwealth Scientific and Industrial Research Organization, Adelaide, South Australia
    Plant Physiol 110:599-609. 1996
    ..The salt-soluble, globulin protein fraction (designated citrin) was purified from Citrus sinensis cv Valencia seeds...
  64. ncbi Variant clinical courses of 2 patients with neonatal intrahepatic cholestasis who have a novel mutation of SLC25A13
    Junji Takaya
    Department of Pediatrics, Kansai Medical University, Moriguchi, Osaka 570 8506, Japan
    Metabolism 54:1615-9. 2005
    Deficiency of citrin due to mutations of the SLC25A13 gene causes not only adult-onset type II citrullinemia, but also neonatal intrahepatic cholestasis...
  65. pmc Interpreting metabolomic profiles using unbiased pathway models
    Rahul C Deo
    Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, Massachusetts, United States of America
    PLoS Comput Biol 6:e1000692. 2010
    ..L amino acid transporters, the osmolyte carrier SLC6A12, and the mitochondrial aspartate-glutamate transporter SLC25A13. Comparison between NGT and IGT groups supported blunted glucose- and/or insulin-stimulated activities in the IGT ..
  66. doi High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan
    Jing Ting Lin
    Department of Medical Laboratory Science and Biotechnology, National Cheng Kung University, Tainan, Taiwan
    Clin Chim Acta 412:460-5. 2011
    Citrin, encoded by SLC25A13 gene, is a mitochondrial solute transporter with a crucial role in urea, nucleotide and protein synthesis...
  67. doi [Improving the diagnostic method for the SLC25A13 gene 851del4 mutation and analysis of the common mutation frequencies in Quanzhou area]
    Hong Zhi Gao
    the Second Clinical College, Fujian Medical University, Quanzhou, Fujian, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 27:626-30. 2010
    ..To ascertain whether the carrier rate is high in Quanzhou which is next to Taiwan in South of the Yangtze River...
  68. doi A case of adult-onset type II citrullinemia with comorbid epilepsy even after liver transplantation
    Yosuke Eriguchi
    Department of Neuropsychiatry, Graduate School of Medicine, University of Tokyo, Bunkyo ku, Tokyo, Japan
    Epilepsia 51:2484-7. 2010
    ..abnormalities persisting even after liver transplantation in a patient with adult-onset type II citrullinemia (CTLN2)...
  69. ncbi Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue
    D S Sinasac
    Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    Genomics 62:289-92. 1999
    ..The gene causing CTLN2 (SLC25A13) was identified by positional cloning (from 7q21...
  70. ncbi 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
    Department of Biochemistry, Faculty of Medicine, Kagoshima University, Kagoshima, Japan
    Hum Mutat 19:122-30. 2002
    We have recently identified SLC25A13 on chromosome 7q21.3 as the gene responsible for adult-onset type II citrullinemia (CTLN2) and found seven mutations in the SLC25A13 gene of CTLN2 patients...
  71. ncbi Type II citrullinaemia (citrin deficiency) in a neonate with hypergalactosaemia detected by mass screening
    E Naito
    Department of Pediatrics, School of Medicine, University of Tokushima, Japan
    J Inherit Metab Dis 25:71-6. 2002
    ..Until now, however, few cases with SLC25A13 mutations have been reported in children with liver disease...
  72. ncbi Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency
    Takeyori Saheki
    Department of Biochemistry, Faculty of Medicine, Kagoshima University, Kagoshima, Japan
    Metab Brain Dis 17:335-46. 2002
    ..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...
  73. ncbi Developmental changes in the Ca2+-regulated mitochondrial aspartate-glutamate carrier aralar1 in brain and prominent expression in the spinal cord
    Milagros Ramos
    Departamento de Biologia Molecular, Centro de Biologia Molecular Severo Ochoa, Universidad Autonoma de Madrid, 28049 Madrid, Spain
    Brain Res Dev Brain Res 143:33-46. 2003
    Aralar1 and citrin are two isoforms of the mitochondrial carrier of aspartate-glutamate (AGC), a calcium regulated carrier, which is important in the malate-aspartate NADH shuttle...
  74. ncbi [Therapeutic approaches for patients with adult-onset type II citrullinemia (CTLN2): effectiveness of treatment with low-carbohydrate diet and sodium pyruvate]
    Masahide Yazaki
    Department of Medicine Neurology and Rheumatology, Shinshu University School of Medicine
    Rinsho Shinkeigaku 50:844-7. 2010
    ..by highly elevated plasma levels of citrulline and ammonia due to the urea cycle dysfunction associated with citrin deficiency...
  75. doi A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): a clinical, molecular, and functional study
    Giuseppe Fiermonte
    Department of Pharmaco Biology, Laboratory of Biochemistry and Molecular Biology, University of Bari, Bari, Italy
    Mol Genet Metab 104:501-6. 2011
    b>Citrin is the liver-specific isoform of the mitochondrial aspartate/glutamate carrier (AGC2)...
  76. doi Metabolomic analysis reveals hepatic metabolite perturbations in citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mice, a model of human citrin deficiency
    Takeyori Saheki
    Institute for Health Sciences, Tokushima Bunri University, 180 Yamashiro cho, Tokushima, Japan
    Mol Genet Metab 104:492-500. 2011
    The citrin/mitochondrial glycerol-3-phosphate dehydrogenase (mGPD) double-knockout mouse displays phenotypic attributes of both neonatal intrahepatic cholestasis and adult-onset type II citrullinemia, making it a suitable model of human ..
  77. doi Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: a human metabolome study by GC-MS in China
    Yuan Zong Song
    Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510630, China
    Clin Biochem 41:616-20. 2008
    ....
  78. doi SLC25A13 gene mutations in Taiwanese patients with non-viral hepatocellular carcinoma
    Kuei Wen Chang
    Department of Pediatrics, Chang Gung Memorial Hospital, Taipei, Taiwan
    Mol Genet Metab 103:293-6. 2011
    Mutations of the SLC25A13 gene, which encodes citrin, result in adult-onset type II citrullinemia (CTLN2)...
  79. doi A GC/MS-based metabolomic approach for diagnosing citrin deficiency
    Tomiko Kuhara
    Department of Biochemistry, Division of Human Genetics, Medical Research Institute, Kanazawa Medical University, Uchinada, Kahoku gun, Ishikawa, 920 0293, Japan
    Anal Bioanal Chem 400:1881-94. 2011
    Citrin is the hepatic mitochondrial aspartate-glutamate carrier that is encoded by the gene SLC25A13. Citrin deficiency often leads to hyperammonemia, for which the current treatment concept is different from that for primary ..
  80. ncbi [SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency]
    Peng qiang Wen
    Institute of Pediatrics, Shenzhen Children s Hospital, Shenzhen, Guangdong 518026, China
    Zhongguo Dang Dai Er Ke Za Zhi 13:303-8. 2011
    Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) which resulted from mutation in SLC25A13 gene can present transient intrahepatic cholestasis, low birth weight, growth retardation, hypoproteinemia and so on...
  81. ncbi Adult-onset type II citrullinemia associated with idopathic hypertriglyceridemia as a preceding feature
    Ryo Terada
    J Gastroenterol Hepatol 21:1634-5. 2006
  82. ncbi [A case of adult-onset type II citrullinemia with repeated nonconvulsive status epilepticus]
    Sayaka Funabe
    Department of Neurology, Juntendo University School of Medicine
    Rinsho Shinkeigaku 49:571-5. 2009
    ..Recent studies have identified the "citrin gene" (SLC25A13) as the causative gene for CTLN2...
  83. doi Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases
    Sabrina Mitchell
    Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA
    Hum Mutat 30:56-60. 2009
    ..and intron/exon boundaries of the five key urea cycle enzymes, NAGS, and two solute carrier transporter genes (SLC25A13 and SLC25A15) for sequence alterations using single-stranded conformational polymorphism (SSCP) analysis and high-..
  84. doi Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency
    Hung Wen Chen
    Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan
    J Pediatr Gastroenterol Nutr 47:187-92. 2008
    To identify facial and biochemical characteristics as early clinical features of neonatal intrahepatic cholestasis due to citrin deficiency (NICCD).
  85. doi Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease
    Michiharu Komatsu
    Department of Gastroenterology, Shinshu University School of Medicine, Matsumoto, Japan
    J Hepatol 49:810-20. 2008
    Citrin deficiency caused by SLC25A13 gene mutations develops into adult-onset type II citrullinemia (CTLN2) and may be accompanied with hepatic steatosis and steatohepatitis...
  86. ncbi [Adult-onset citrullinemia]
    Shu Ichi Ikeda
    Department of Internal Medicine Neurology and Rheumatology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto 390 8621, Japan
    No To Shinkei 59:59-66. 2007
    ..had not been found within ASS gene locus, but the causative gene of this disorder is now identified as the "citrin gene", which might act as a aspartate/glutamate transporter in mitochondria...
  87. doi Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions
    Lee Jun C Wong
    Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Clin Chem 54:1141-8. 2008
    ..Oligonucleotide array-based comparative genomic hybridization (CGH) is currently in clinical use to detect major changes in chromosomal copy number...
  88. doi Reduced carbohydrate intake in citrin-deficient subjects
    T Saheki
    Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan
    J Inherit Metab Dis 31:386-94. 2008
    ..Citrin deficiency (due to homozygous or compound heterozygous mutations in the gene SLC25A13) causes both adult-onset type II citrullinaemia (CTLN2) and neonatal intrahepatic cholestasis (NICCD)...
  89. ncbi Mitochondrial transporters as novel targets for intracellular calcium signaling
    Jorgina Satrustegui
    Departamento de Biología Molecular Centro de Biología Molecular Severo Ochoa UAM CSIC, Facultad de Ciencias, Universidad Autonoma, Madrid, Spain
    Physiol Rev 87:29-67. 2007
    ..The two mammalian AGCs, aralar and citrin, are members of the malate-aspartate NADH shuttle, and citrin, the liver AGC, is also a member of the urea cycle...
  90. ncbi Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
    T Ohura
    Depatment of Paediatrics, Tohoku University School of Medicine, Sendai, Japan
    J Inherit Metab Dis 30:139-44. 2007
    We clarified the clinical features of NICCD (neonatal intrahepatic cholestasis caused by citrin deficiency) by retrospective review of symptoms, management and long-term outcome of 75 patients...
  91. ncbi Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet
    David Dimmock
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Pediatrics 119:e773-7. 2007
    ..demonstrated citrin deficiency, and a deletion for exon 3 was found in the patient's coding DNA of the SLC25A13 gene...
  92. doi Downregulation of citrin, a mitochondrial AGC, is associated with apoptosis of hepatocytes
    Shigeki Sawada
    Division of Molecular Virology and Oncology, Graduate School of Medicine, University of the Ryukyus, 2 07 Uehara, Nishihara, Okinawa 903 0215, Japan
    Biochem Biophys Res Commun 364:937-44. 2007
    ..Adult-onset type II citrullinemia is caused by mutations in the SLC25A13 gene that encodes for citrin, and patients with this condition do not express citrin...
  93. ncbi [A case of adult-onset type II citrullinemia having a liver histology of nonalcoholic steatohepatitis (NASH)]
    Kohei Fukumoto
    Department of Gastroenterology and Hepatology, Nara City Hospital
    Nihon Shokakibyo Gakkai Zasshi 105:244-51. 2008
    ..Gene examination demonstrated abnormality in the SLC25A13 gene, confirming CTLN2...
  94. ncbi Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency
    Takeyori Saheki
    Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima 890 8544, Japan
    J Biol Chem 282:25041-52. 2007
    ..In humans, loss-of-function mutations in the SLC25A13 gene encoding citrin cause both adult-onset type II citrullinemia and neonatal intrahepatic cholestasis, ..
  95. ncbi [SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency]
    Yuan Zong Song
    Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510630, China
    Zhonghua Er Ke Za Zhi 45:408-12. 2007
    ..by citrin deficiency (NICCD, MIM#605814) is an inherited metabolic disease resulting from mutations of the gene SLC25A13, which encodes citrin, a liver-type mitochondrial aspartate-glutamate carrier...
  96. doi Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate
    K Mutoh
    Department of Pediatrics, Shimada Municipal Hospital, Shimada, Japan
    J Inherit Metab Dis 31:S343-7. 2008
    b>Citrin deficiency is a common congenital metabolic defect not only in East Asian populations but also in other populations around the world...
  97. ncbi Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma
    Ching Wei Tsai
    Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, 7 Chung Shan South Road, Taipei 100, Taiwan
    J Formos Med Assoc 105:852-6. 2006
    ..Adult-onset citrullinemia (type II, CTLN2) has been attributed to citrin deficiency caused by mutations in the SLC25A13 gene. CTLN2 is associated with a high incidence of hepatocellular carcinoma (HCC) in Japanese...
  98. doi Low levels of citrin (SLC25A13) expression in adult mouse brain restricted to neuronal clusters
    Laura Contreras
    Departamento de Biologia Molecular, Centro de Biologia Molecular Severo Ochoa CSIC UAM, Universidad Autonoma de Madrid, Madrid, Spain
    J Neurosci Res 88:1009-16. 2010
    The mitochondrial aspartate-glutamate carriers (AGC) aralar (SLC25A12) and citrin (SLC25A13) are components of the malate aspartate shuttle (MAS), a major intracellular pathway to transfer reducing equivalents from NADH to the ..
  99. doi Gene expression profiling of maternal blood in early onset severe preeclampsia: identification of novel biomarkers
    Cheng Juan Sun
    Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, PR China
    J Perinat Med 37:609-16. 2009
    ....
  100. ncbi [Failure to thrive and dyslipidemia caused by citrin deficiency: a novel clinical phenotype]
    Yuan Zong Song
    Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou, China
    Zhongguo Dang Dai Er Ke Za Zhi 11:328-32. 2009
    ..b>SLC25A13 gene analysis revealed a homozygote of 851del4, and CD was thus confirmed...

Research Grants16

  1. Control of Cardiac Metabolism: NADH Shuttles/Hypertrophy
    Thomas Scholz; Fiscal Year: 2006
    ..Recently, two proteins associated with adult-onset citrullinemia, citrin and aralar 1, have been suggested to serve as AGC proteins...
  2. Molecular Basis of OTC Deficiency and Related Disorders
    Mendel Tuchman; Fiscal Year: 2005
    ..3) Citrin (CITR) is a newly described calcium-binding aspartate/glutamate mitochondrial membrane carrier the absence of ..
  3. The Role of Mitochondrial DNA Alterations in Cancer
    Lee Jun Wong; Fiscal Year: 2007
    ..Results from this research project will help us understand the functional role of mitochondrial DNA alterations in cancer and identify potential novel targets for more effective therapeutic development. ..
  4. Expression and Function of the EAATs in the Heart
    JOHN RALPHE; Fiscal Year: 2007
    ..This combination will maximize the potential for the principal investigator to develop into a successful independent research scientist. ..