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Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.
Tavoulari S, Lacabanne D, Thangaratnarajah C, Kunji ERS. Tavoulari S, et al. Trends Endocrinol Metab. 2022 Aug;33(8):539-553. doi: 10.1016/j.tem.2022.05.002. Epub 2022 Jun 17. Trends Endocrinol Metab. 2022. PMID: 35725541 Free PMC article. Review.
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). The cause is the absence or dysfu …
Citrin deficiency is a pan-ethnic and highly prevalent mitochondrial disease with three different stages: neonatal intrahepatic chole …
Citrin Deficiency: Clinical and Nutritional Features.
Komatsu M, Tanaka N, Kimura T, Yazaki M. Komatsu M, et al. Nutrients. 2023 May 12;15(10):2284. doi: 10.3390/nu15102284. Nutrients. 2023. PMID: 37242166 Free PMC article. Review.
SLC25A13 gene mutations are responsible for diseases related to citrin deficiency (CD), such as neonatal intrahepatic cholestasis caused by citrin deficiency and adult-onset type II citrullinemia (CTLN2). ...Carbohydrate overload and alcohol consumptio …
SLC25A13 gene mutations are responsible for diseases related to citrin deficiency (CD), such as neonatal intrahepatic cholesta …
Bioinformatic and functional analysis of promoter region of human SLC25A13 gene.
Chen JL, Zhang ZH, Li BX, Cai Z, Zhou QH. Chen JL, et al. Gene. 2019 Apr 20;693:69-75. doi: 10.1016/j.gene.2019.01.023. Epub 2019 Jan 29. Gene. 2019. PMID: 30708027
Biallelic SLC25A13 mutations result in Citrin deficiency (CD). In order to identify the important regulatory region of SLC25A13 gene and elucidate the way how potential promoter mutations affect the citrin expression, we performed promoter deletion ana …
Biallelic SLC25A13 mutations result in Citrin deficiency (CD). In order to identify the important regulatory region of SLC2 …
Genetic and clinical features of patients with intrahepatic cholestasis caused by citrin deficiency.
Sun W, Zhang X, Su H, Wang X, Qin F, Gong X, Wang B, Yu F. Sun W, et al. J Pediatr Endocrinol Metab. 2023 May 8;36(6):523-529. doi: 10.1515/jpem-2022-0616. Print 2023 Jun 27. J Pediatr Endocrinol Metab. 2023. PMID: 37146272 Free article.
OBJECTIVES: Citrin deficiency (CD) is an autosomal recessive disease caused by mutations of the SLC25A13 gene, plasma bile acid profiles detected by liquid chromatography-tandem mass spectrometry (LC-MS/MS) could be an efficient approach for early diagnosis of intra …
OBJECTIVES: Citrin deficiency (CD) is an autosomal recessive disease caused by mutations of the SLC25A13 gene, plasma bile aci …
Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.
Kido J, Häberle J, Sugawara K, Tanaka T, Nagao M, Sawada T, Wada Y, Numakura C, Murayama K, Watanabe Y, Kojima-Ishii K, Sasai H, Kosugiyama K, Nakamura K. Kido J, et al. J Inherit Metab Dis. 2022 May;45(3):431-444. doi: 10.1002/jimd.12483. Epub 2022 Feb 25. J Inherit Metab Dis. 2022. PMID: 35142380
Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene. The disease can present with age-dependent clinical manifestations: neonatal intrahepatic cholestasis by citrin deficiency (NICCD), failure to thrive, and dyslipide …
Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene. The disease can present with ag …
AGC2 (Citrin) Deficiency-From Recognition of the Disease till Construction of Therapeutic Procedures.
Saheki T, Moriyama M, Funahashi A, Kuroda E. Saheki T, et al. Biomolecules. 2020 Jul 24;10(8):1100. doi: 10.3390/biom10081100. Biomolecules. 2020. PMID: 32722104 Free PMC article. Review.
Metabolism of carbohydrates and other substances which produce cytosolic NADH such as alcohol and glycerol suppress oxaloacetate formation. It is forced under citrin deficiency since citrin is a member of malate/Asp shuttle. In this review, we will describe history …
Metabolism of carbohydrates and other substances which produce cytosolic NADH such as alcohol and glycerol suppress oxaloacetate formation. …
In-house multiplex ligation-dependent probe amplification assay for citrin deficiency: analytical validation and novel exonic deletions in SLC25A13.
Lau NKC, Lee HHC, Chen SPL, Ng CWY, Mak CM, Chong YK, Tong TTY, Leung MT, Shek CC, Yuen YP, Ching CK. Lau NKC, et al. Pathology. 2021 Dec;53(7):867-874. doi: 10.1016/j.pathol.2021.02.010. Epub 2021 May 25. Pathology. 2021. PMID: 34045052
Its molecular diagnosis requires confirmation of the presence of biallelic pathogenic variants in SLC25A13 gene by sequencing, and analysis for a common insertion IVS16ins3kb. ...In summary, we developed, evaluated, and demonstrated the clinical utility of an in-house MLPA …
Its molecular diagnosis requires confirmation of the presence of biallelic pathogenic variants in SLC25A13 gene by sequencing, and an …
A next generation sequencing gene panel for use in the diagnosis of anorexia nervosa.
Ceccarini MR, Precone V, Manara E, Paolacci S, Maltese PE, Benfatti V, Dhuli K, Donato K, Guerri G, Marceddu G, Chiurazzi P, Dalla Ragione L, Beccari T, Bertelli M. Ceccarini MR, et al. Eat Weight Disord. 2022 Jun;27(5):1869-1880. doi: 10.1007/s40519-021-01331-0. Epub 2021 Nov 25. Eat Weight Disord. 2022. PMID: 34822136
RESULTS: In our analysis, we found potentially deleterious variants in 2 genes (PDE11A and SLC25A13) associated with syndromic forms of anorexia and predicted deleterious variants in the following 12 genes: CD36, CACNA1C, DRD4, EPHX2, ESR1, GRIN2A, GRIN3B, LRP2, NPY4R, PTG …
RESULTS: In our analysis, we found potentially deleterious variants in 2 genes (PDE11A and SLC25A13) associated with syndromic forms …
The mitochondrial carrier Citrin plays a role in regulating cellular energy during carcinogenesis.
Rabinovich S, Silberman A, Adler L, Agron S, Levin-Zaidman S, Bahat A, Porat Z, Ben-Zeev E, Geva I, Itkin M, Malitsky S, Buchaklian A, Helbling D, Dimmock D, Erez A. Rabinovich S, et al. Oncogene. 2020 Jan;39(1):164-175. doi: 10.1038/s41388-019-0976-2. Epub 2019 Aug 28. Oncogene. 2020. PMID: 31462712
Citrin, encoded by SLC25A13 gene, is an inner mitochondrial transporter that is part of the malate-aspartate shuttle, which regulates the NAD+/NADH ratio between the cytosol and mitochondria. ...Furthermore, based on the human deleterious mutations in citrin, …
Citrin, encoded by SLC25A13 gene, is an inner mitochondrial transporter that is part of the malate-aspartate shuttle, which re …
Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency with SLC25A13 Mutation Presenting Hepatic Steatosis and Prolonged Jaundice. A Rare Case Report.
Hu SW, Lu WL, Chiang IP, Wu SF, Wang CH, Chen AC. Hu SW, et al. Medicina (Kaunas). 2021 Sep 28;57(10):1032. doi: 10.3390/medicina57101032. Medicina (Kaunas). 2021. PMID: 34684069 Free PMC article.
Background: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a rare autosomal recessive disease. The incidence of citrin deficiency is estimated between 1/10,000 and 1/20,000 in Taiwan. ...Newborn screening disclosed normal results, but the g …
Background: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a rare autosomal recessive disease. The incidenc …
49 results