Results 31 to 40 of about 451,717 (162)

Distinct roles for the domains of the mitochondrial aspartate/glutamate carrier citrin in organellar localization and substrate transport [PDF]

Molecular Metabolism
Objective: Citrin, the mitochondrial aspartate/glutamate carrier isoform 2 (AGC2), is structurally and mechanistically the most complex SLC25 family member, because it consists of three domains and forms a homo-dimer.
Sotiria Tavoulari, Denis Lacabanne, Gonçalo C. Pereira, Chancievan Thangaratnarajah, Martin S. King, Jiuya He, Suvagata R. Chowdhury, Lisa Tilokani, Shane M. Palmer, Julien Prudent, John E. Walker, Edmund R.S. Kunji   +11 more
doaj   +4 more sources

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

PLoS ONE, 2013
BACKGROUND: 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 ...
Yuan-Zong Song, Zhan-Hui Zhang, Wei-Xia Lin, Xin-Jing Zhao, Mei Deng, Yan-Li Ma, Li Guo, Feng-Ping Chen, Xiao-Ling Long, Xiang-Ling He, Yoshihide Sunada, Shun Soneda, Akiko Nakatomi, Sumito Dateki, Lock-Hock Ngu, Keiko Kobayashi, Takeyori Saheki   +16 more
doaj   +3 more sources

Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical features, genetic characteristics, and treatment outcomes [PDF]

BMC Gastroenterology
Background Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder with heterogeneous clinical manifestations.
Yigui Zou, Yu Dai, Liang Liu, Qinghua Yang, Wenwen Li, Yilin Dong, Sicong Li, Yongwei Cheng, Dongling Dai   +8 more
doaj   +2 more sources

Metabolic signatures and a diagnostic model for citrin deficiency based on urinary organic acids [PDF]

Clinical and Translational Medicine
Purpose This study aimed to characterise urinary organic acid profiles in Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) and develop a diagnosis model to distinguish NICCD patients from those in the non‐specific metabolic ...
Peiyao Wang, Peichun Chen, Xinjie Yang, Ziyan Cen, Yu Zhang, Qimin He, Benqing Wu, Xinwen Huang   +7 more
doaj   +2 more sources

Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn [PDF]

BMC Pediatrics, 2020
Background Primary carnitine deficiency (PCD) is an autosomal recessive disorder affecting the carnitine cycle and resulting in defective fatty acid oxidation.
Yiming Lin, Weihua Lin, Yanru Chen, Chunmei Lin, Zhenzhu Zheng, Jianlong Zhuang, Qingliu Fu   +6 more
doaj   +2 more sources

Neonatal intrahepatic cholestasis caused by citrin deficiency with no hepatic steatosis: a case report [PDF]

BMC Pediatrics, 2021
Background Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a common form of neonatal jaundice. Histopathological examination of the liver in patients with NICCD typically shows fatty liver, steatohepatitis, and liver fibrosis ...
Ryosuke Miyamoto, Jun Sada, Koki Ota, Kenitiro Kaneko, Hironori Kusano, Yoshiteru Azuma, Akihisa Okumura   +6 more
doaj   +2 more sources

A rare case report: multiple intrahepatic masses in a pediatric patient with citrin deficiency [PDF]

Discover Oncology
Deficiency of citrin, the liver-type aspartate-glutamate carrier, arises from biallelic mutations of the gene SLC25A13. Although citrin deficiency (CD) is associated with higher risk of hepatocellular carcinoma (HCC) in adult patients, this association ...
Hui Lin, Hong Jiang, Qiang Chen, Xiang Pan, Mei Deng, Xiang-Ran Cai, Yuan-Zhi Lu, Yuan-Zong Song, Jun-Cheng Liu   +8 more
doaj   +2 more sources

Metabolic profiles and prediction of failure to thrive of citrin deficiency with normal liver function based on metabolomics and machine learning [PDF]

Nutrition & Metabolism
Purpose This study aimed to explore metabolite pathways and identify residual metabolites during the post-neonatal intrahepatic cholestasis caused by citrin deficiency (post-NICCD) phase, while developing a predictive model for failure to thrive (FTT ...
Peiyao Wang, Duo Zhou, Lingwei Hu, Pingping Ge, Ziyan Cen, Zhenzhen Hu, Qimin He, Kejun Zhou, Benqing Wu, Xinwen Huang   +9 more
doaj   +2 more sources

Developing an explainable machine learning model to predict false-negative citrin deficiency cases in newborn screening [PDF]

Orphanet Journal of Rare Diseases
Background Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) is an autosomal recessive disorder affecting the urea cycle and energy metabolism.
Peiyao Wang, Haomin Li, Xinjie Yang, Lingwei Hu, Yuhe Chen, Ziyan Cen, Pingping Ge, Qimin He, Benqing Wu, Xinwen Huang   +9 more
doaj   +2 more sources

Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency. [PDF]

Trends Endocrinol Metab, 2022
Citrin deficiency is a pan-ethnic and highly prevalent mitochondrial disease with three different stages: neonatal intrahepatic cholestasis (NICCD), a relatively mild adaptation stage, and type II citrullinemia in adulthood (CTLN2).
Tavoulari S, Lacabanne D, Thangaratnarajah C, Kunji ERS.   +3 more
europepmc   +3 more sources