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NAGS , CPS1 , and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells
Author / Creator:Owusu-Ansah, Melissa ; Guptan, Nikita ; Alindogan, Dylon ; Morizono, Michio ; Caldovic, Ljubica
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2023-04, Vol.24 (7), p.6754
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Transcriptional Regulation Factors of the Human Mitochondrial Aspartate/Glutamate Carrier Gene, Isoform 2 ( SLC25A13 ): USF1 as Basal Factor and FOXA2 as Activator in Liver Cells
Author / Creator:Convertini, Paolo ; Todisco, Simona ; De Santis, Francesco ; Pappalardo, Ilaria ; Iacobazzi, Dominga ; Castiglione Morelli, Maria Antonietta ; Fondufe-Mittendorf, Yvonne N ; Martelli, Giuseppe ; Palmieri, Ferdinando ; Infantino, Vittoria
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2019-04, Vol.20 (8), p.1888
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Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution
Author / Creator:Lin, Wei-Xia ; Zeng, Han-Shi ; Zhang, Zhan-Hui ; Mao, Man ; Zheng, Qi-Qi ; Zhao, Shu-Tao ; Cheng, Ying ; Chen, Feng-Ping ; Wen, Wang-Rong ; Song, Yuan-Zong
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2016-07, Vol.6 (1), p.29732-29732, Article 29732
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Unveiling the oncogenic role of SLC25A13: a multi-omics pan-cancer analysis reveals its impact on glioma progression
Author / Creator:Wu, Wenjie ; Liu, Simin ; Ren, Huili ; Rao, Yuxin ; Nie, Jun ; Wei, Keke ; Jiang, Xiaobing
Publisher:England: BioMed Central
Journal title:Cancer cell international, 2025-03, Vol.25 (1), p.76-21, Article 76
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The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis
Author / Creator:Nguyen, Mai-Huong Thi ; Nguyen, Anh-Hoa Pham ; Ngo, Diem-Ngoc ; Nguyen, Phuong-Mai Thi ; Tang, Hung-Sang ; Giang, Hoa ; Lu, Y-Thanh ; Nguyen, Hoai-Nghia ; Tran, Minh-Dien
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2023-05, Vol.68 (5), p.305-312
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SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China
Author / Creator:Song, Yuan-Zong ; Zhang, Zhan-Hui ; Lin, Wei-Xia ; Zhao, Xin-Jing ; Deng, Mei ; Ma, Yan-Li ; Guo, Li ; Chen, Feng-Ping ; Long, Xiao-Ling ; He, Xiang-Ling ; Sunada, Yoshihide ; Soneda, Shun ; Nakatomi, Akiko ; Dateki, Sumito ; Ngu, Lock-Hock ; Kobayashi, Keiko ; Saheki, Takeyori
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-09, Vol.8 (9), p.e74544
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Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency with SLC25A13 Mutation Presenting Hepatic Steatosis and Prolonged Jaundice. A Rare Case Report
Author / Creator:Hu, Shu-Wei ; Lu, Wen-Li ; Chiang, I-Ping ; Wu, Shu-Fen ; Wang, Chung-Hsing ; Chen, An-Chyi
Publisher:Basel: MDPI AG
Journal title:Medicina (Kaunas, Lithuania), 2021-09, Vol.57 (10), p.1032
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Identification of a novel splicing mutation in the SLC25A13 gene from a patient with NICCD: a case report
Author / Creator:Zhang, Linlin ; Li, Yingying ; Shi, Wenli ; Gao, Jinshuang ; Tian, Yuan ; Li, Ying ; Guo, Yaqing ; Cui, Shihong ; Zhang, Xiaoan
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2019-10, Vol.19 (1), p.348-348, Article 348
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Identification of a Large SLC25A13 Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NIC...
Author / Creator:Song, Yuan-Zong ; Yang, Heng-Wen ; Lin, Wei-Xia ; Zeng, Han-Shi ; Zhang, Zhan-Hui ; Zheng, Qi-Qi ; Yin, Zhi-Nan
Publisher:Cairo, Egypt: Hindawi Publishing Corporation
Journal title:BioMed research international, 2016-01, Vol.2016 (2016), p.1-7
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Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency
Author / Creator:Wongkittichote, Parith ; Tungpradabkul, Sumalee ; Wattanasirichaigoon, Duangrurdee ; Jensen, Laran T.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2013-09, Vol.36 (5), p.821-830
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Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency
Author / Creator:Tabata, Ayako ; Sheng, Jian-Sheng ; Ushikai, Miharu ; Song, Yuan-Zong ; Gao, Hong-Zhi ; Lu, Yao-Bang ; Okumura, Fumihiko ; Iijima, Mikio ; Mutoh, Kozo ; Kishida, Shosei ; Saheki, Takeyori ; Kobayashi, Keiko
Publisher:Tokyo: Springer Japan
Journal title:Journal of human genetics, 2008-06, Vol.53 (6), p.534-545
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The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia
Author / Creator:Fu, Hai-Yan ; Zhang, Shao-Ren ; Wang, Xiao-Hong ; Saheki, Takeyori ; Kobayashi, Keiko ; Wang, Jian-She
Publisher:Japan: Springer Japan
Journal title:Journal of gastroenterology, 2011-04, Vol.46 (4), p.510-518
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Novel mutations in the SLC25A13 gene in a patient with NICCD and severe manifestations
Author / Creator:Wang, Hong ; Shu, Sainan ; Chen, Chen ; Huang, Zhihua ; Wang, DaoWen
Publisher:Germany: De Gruyter
Journal title:Journal of Pediatric Endocrinology & Metabolism, 2015-03, Vol.28 (3), p.471-475
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Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants
Author / Creator:Treepongkaruna, Suporn ; Jitraruch, Suttiruk ; Kodcharin, Porawee ; Charoenpipop, Dussadee ; Suwannarat, Pim ; Pienvichit, Paneeya ; Kobayashi, Keiko ; Wattanasirichaigoon, Duangrurdee
Publisher:England: BioMed Central
Journal title:BMC gastroenterology, 2012-10, Vol.12 (1), p.141-141
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p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency
Author / Creator:Şeker-Yılmaz, Berna ; Kör, Deniz ; Tümgör, Gökhan ; Ceylaner, Serdar ; Önenli-Mungan, Neslihan
Publisher:Turkey: Hacettepe University Faculty of Medicine
Journal title:Turkish journal of pediatrics, 2017, Vol.59 (3), p.311-314
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Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency
Author / Creator:Lu, Yao Bang ; Kobayashi, Keiko ; Ushikai, Miharu ; Tabata, Ayako ; Iijima, Mikio ; Li, Meng Xian ; Lei, Lei ; Kawabe, Kotaro ; Taura, Satoru ; Yang, Yanling ; Liu, Tze-Tze ; Chiang, Szu-Hui ; Hsiao, Kwang-Jen ; Lau, Yu-Lung ; Tsui, Lap-Chee ; Lee, Dong Hwan ; Saheki, Takeyori
Publisher:Tokyo: Springer Japan
Journal title:Journal of human genetics, 2005-07, Vol.50 (7), p.338-346
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Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: Identification and pathogenicity analysis of a novel SLC25A13 mutation with i...
Author / Creator:ZENG, HAN-SHI ; ZHAO, SHU-TAO ; DENG, MEI ; ZHANG, ZHAN-HUI ; CAI, XIANG-RAN ; CHEN, FENG-PING ; SONG, YUAN-ZONG
Publisher:Athens: D.A. Spandidos
Journal title:International journal of molecular medicine, 2014-11, Vol.34 (5), p.1241-1248
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SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis c...
Author / Creator:Zeng, Han-Shi ; Lin, Wei-Xia ; Zhao, Shu-Tao ; Zhang, Zhan-Hui ; Yang, Heng-Wen ; Chen, Feng-Ping ; Song, Yuan-Zong ; Yin, Zhi-Nan
Publisher:Greece: D.A. Spandidos
Journal title:Molecular medicine reports, 2016-12, Vol.14 (6), p.5189-5194
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FIRST BULGARIAN CASE OF CITRIN DEFICIENCY CAUSED BY ONE NOVEL AND ONE RECURRENT MUTATION IN THE SLC25A13 GENE
Author / Creator:AVDJIEVA-TZAVELLA, D.M ; IBANOVA, M.B ; TODOROV, T.P ; TODOROVA, A.P ; PANTELEEVA, E.I ; TINCHEVA, S.S ; LAZAROVA, E.A ; KATHOM, H.M ; YANEVA, P.G ; TINCHEVA, R.S
Publisher:Genève: Médecine & hygiène
Journal title:Genetic counseling, 2014-01, Vol.25 (3), p.271-276
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CITRIN DEFICIENCY: AN INFANT INCIDENTALLY DETECTED BY PHENYLKETONURIA SCREENING WITH A NOVEL MUTATION IN SLC25A13 GENE
Author / Creator:Zeybek, A C Aktuglu ; Kiykim, E ; Zubarioglu, T ; Cansever, M S ; Ceylaner, S ; Erkan, T
Publisher:Switzerland: Éditions Médecine et Hygiène
Journal title:Genetic counseling, 2015-01, Vol.26 (4), p.409-413
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NAGS , CPS1 , and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells

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Transcriptional Regulation Factors of the Human Mitochondrial Aspartate/Glutamate Carrier Gene, Isoform 2 ( SLC25A13 ): USF1 as Basal Factor and FOXA2 as Activator in Liver Cells

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Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution

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Unveiling the oncogenic role of SLC25A13: a multi-omics pan-cancer analysis reveals its impact on glioma progression

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The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis

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SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China

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Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency with SLC25A13 Mutation Presenting Hepatic Steatosis and Prolonged Jaundice. A Rare Case Report

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Identification of a novel splicing mutation in the SLC25A13 gene from a patient with NICCD: a case report

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Identification of a Large SLC25A13 Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NIC...

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Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency

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Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency

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

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Novel mutations in the SLC25A13 gene in a patient with NICCD and severe manifestations

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Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants

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p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency

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

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Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: Identification and pathogenicity analysis of a novel SLC25A13 mutation with i...

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SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis c...

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FIRST BULGARIAN CASE OF CITRIN DEFICIENCY CAUSED BY ONE NOVEL AND ONE RECURRENT MUTATION IN THE SLC25A13 GENE

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CITRIN DEFICIENCY: AN INFANT INCIDENTALLY DETECTED BY PHENYLKETONURIA SCREENING WITH A NOVEL MUTATION IN SLC25A13 GENE

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