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.

Saheki T; Kobayashi K; Iijima M; Horiuchi M; Begum L; Jalil MA; Li MX; Lu YB; Ushikai M; Tabata A; Moriyama M; Hsiao KJ; Yang Y

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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.

机译：成人发作的II型瓜氨酸血红素和特发性新生儿肝炎由柠檬素缺乏引起：谷氨酸谷氨酸载体参与尿素合成并维持尿素循环。

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Citrin is a mitochondrial aspartate glutamate carrier primarily expressed in the liver, heart, and kidney. We found that adult-onset type II citrullinemia is caused by mutations in the SLC25A13 gene that encodes for citrin. In this report, we describe the frequency of SLC25A13 mutations, the roles of citrin as a member of the urea cycle and as a member of the malate-aspartate shuttle, the relationship between its functions and symptoms of citrin deficiency, and therapeutic issues.

机译：柠檬酸是主要在肝脏，心脏和肾脏中表达的线粒体天冬氨酸谷氨酸载体。我们发现成人发作的II型瓜氨酸血症是由编码柠檬酸的SLC25A13基因突变引起的。在本报告中，我们描述了SLC25A13突变的频率，柠檬酸作为尿素循环成员和苹果酸-天冬氨酸穿梭成员的作用，其功能与柠檬酸缺乏症状之间的关系以及治疗问题。

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来源
《Molecular genetics and metabolism》 |2004年第1期|共7页
作者
Saheki T; Kobayashi K; Iijima M; Horiuchi M; Begum L; Jalil MA; Li MX; Lu YB; Ushikai M; Tabata A; Moriyama M; Hsiao KJ; Yang Y;
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正文语种 eng
中图分类基础医学;
关键词
Calcium-Binding Proteins; Citrullinemia; Hepatitis; Organic Anion Transporters; 钙结合蛋白质类; 肝炎; 尿素;

机译：Calcium-Binding Proteins;Citrullinemia;Hepatitis;Organic Anion Transporters;钙结合蛋白质类;肝炎;尿素;

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1. 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. [J] . Saheki T, Kobayashi K, Iijima M, Molecular genetics and metabolism . 2004,第Suppla1期

机译：成人发作的II型瓜氨酸血红素和特发性新生儿肝炎由柠檬素缺乏引起：谷氨酸谷氨酸载体参与尿素合成并维持尿素循环。
2. Pathogenesis of adult-onset type II citrullinemia caused by deficiency of citrin, a mitochondrial solute carrier protein: tissue and subcellular localization of citrin. [J] . Iijima M, Jalil A, Begum L, Advances in enzyme regulation . 2001,第0期

机译：由缺乏一种线粒体溶质载体蛋白citrin引起的成人II型瓜氨酸血红蛋白的发病机理：citrin的组织和亚细胞定位。
3. Pivotal role of inter-organ aspartate metabolism for treatment of mitochondrial aspartate-glutamate carrier 2 (citrin) deficiency, based on the mouse model [J] . Takeyori Saheki, Mitsuaki Moriyama, Eishi Kuroda, Scientific reports. . 2019,第1期

机译：对于治疗线粒体天冬氨酸 - 谷氨酸载体2（Citrin）缺乏的器官间天冬氨酸代谢的枢轴作用，基于小鼠模型
4. Cloning and characterization of citrin: The aspartate/glutamate carrier mutated in adult-onset type II citrullinemia. [D] . Sinasac, David Steven. 2003

机译：柠檬酸的克隆和特征：天冬氨酸/谷氨酸携带者在成年发作的II型瓜氨酸血症中突变。
5. Pivotal role of inter-organ aspartate metabolism for treatment of mitochondrial aspartate-glutamate carrier 2 (citrin) deficiency based on the mouse model [O] . Takeyori Saheki, Mitsuaki Moriyama, Eishi Kuroda, -1

机译：基于小鼠模型器官间天冬氨酸代谢在治疗线粒体天冬氨酸-谷氨酸载体2（柠檬酸）缺乏症中的关键作用
6. Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD) [O] . T. Saheki, K. Kobayashi 2002

机译：线粒体天冬氨酸谷氨酸载体（Citrin）缺乏作为成人发作II型柑橘蛋白血症（CTLN2）和特发性新生儿肝炎（Niccd）的原因

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.

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