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Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition.
Kido J, Makris G, Santra S, Häberle J. Kido J, et al. J Inherit Metab Dis. 2024 Nov;47(6):1144-1156. doi: 10.1002/jimd.12722. Epub 2024 Mar 19. J Inherit Metab Dis. 2024. PMID: 38503330 Free PMC article. Review.
Citrin deficiency is an autosomal recessive disorder caused by a defect of citrin resulting from mutations in SLC25A13. The clinical manifestation is very variable and comprises three types: neonatal intrahepatic cholestasis caused by citrin deficiency …
Citrin deficiency is an autosomal recessive disorder caused by a defect of citrin resulting from mutations in SLC25A13. …
Citrin deficiency-The East-side story.
Häberle J. Häberle J. J Inherit Metab Dis. 2024 Nov;47(6):1129-1133. doi: 10.1002/jimd.12772. Epub 2024 Jul 12. J Inherit Metab Dis. 2024. PMID: 38994653 Free PMC article. Review.
Citrin deficiency (CD) is a complex metabolic condition due to defects in SLC25A13 encoding citrin, an aspartate/glutamate carrier located in the mitochondrial inner membrane. ...With an improved understanding of its molecular basis, it became apparent that a …
Citrin deficiency (CD) is a complex metabolic condition due to defects in SLC25A13 encoding citrin, an aspartate/glutam …
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 …
Pathogenesis and Management of Citrin Deficiency.
Hayasaka K. Hayasaka K. Intern Med. 2024 Jul 15;63(14):1977-1986. doi: 10.2169/internalmedicine.2595-23. Epub 2023 Nov 13. Intern Med. 2024. PMID: 37952953 Free PMC article. Review.
Citrin deficiency (CD) is a hereditary disorder caused by SLC25A13 mutations that manifests as neonatal intrahepatic cholestasis caused by CD (NICCD), failure to thrive and dyslipidemia caused by CD (FTTDCD), and adult-onset type 2 citrullinemia (CTLN2). C …
Citrin deficiency (CD) is a hereditary disorder caused by SLC25A13 mutations that manifests as neonatal intrahepatic cholestas …
Glycerol-3-phosphate activates ChREBP, FGF21 transcription and lipogenesis in citrin deficiency.
Tiwari V, Jin B, Sun O, Lopez Gonzalez EDJ, Chen MH, Wu X, Shah H, Zhang A, Herman MA, Spracklen CN, Goodman RP, Brenner C. Tiwari V, et al. Nat Metab. 2025 Nov;7(11):2284-2299. doi: 10.1038/s42255-025-01399-3. Epub 2025 Nov 14. Nat Metab. 2025. PMID: 41238906 Free PMC article.
Citrin deficiency (CD) is caused by the inactivation of SLC25A13, a mitochondrial membrane protein required to move electrons from cytosolic NADH to the mitochondrial matrix in hepatocytes. People with CD do not like sweets. Here we show that SLC25A13 loss ca …
Citrin deficiency (CD) is caused by the inactivation of SLC25A13, a mitochondrial membrane protein required to move electrons …
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.
AGC2 (aspartate glutamate carrier 2) or citrin is a mitochondrial transporter which transports aspartate (Asp) from mitochondria to cytosol in exchange with glutamate (Glu) and H(+). ...Metabolism of carbohydrates and other substances which produce cytosolic NADH such as a …
AGC2 (aspartate glutamate carrier 2) or citrin is a mitochondrial transporter which transports aspartate (Asp) from mitochondria to c …
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 …
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
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 …
Lactate-related gene signatures predict prognosis and immune profiles in esophageal squamous cell carcinoma.
Wang X, Jiang J, He H, Wang Y. Wang X, et al. Sci Rep. 2025 Jul 5;15(1):24032. doi: 10.1038/s41598-025-10456-6. Sci Rep. 2025. PMID: 40617965 Free PMC article.
CellChat analysis revealed that lactylation-associated subpopulations, particularly epithelial and immune cells, presented increased intercellular communication in the high-lactylation group. Additionally, KIF23, TRMT5, TEFM, SLC25A13, TIMM50, DGUOK, DNM1L and COX5A exhibi …
CellChat analysis revealed that lactylation-associated subpopulations, particularly epithelial and immune cells, presented increased interce …
Cancer carrier screening in the general population using whole-genome sequencing.
Chang YS, Chao DS, Chung CC, Chou YP, Chang CM, Lin CL, Chu HW, Chen HD, Liu TY, Juan YH, Chang SJ, Chang JG. Chang YS, et al. Cancer Med. 2023 Jan;12(2):1972-1983. doi: 10.1002/cam4.5034. Epub 2022 Jul 21. Cancer Med. 2023. PMID: 35861108 Free PMC article.
After analyzing the frequencies of P/LP variants on GJB2 and SLC25A13 genes, we suggest that these two genes may not be cancer-related genes and need be re-evaluated. ...
After analyzing the frequencies of P/LP variants on GJB2 and SLC25A13 genes, we suggest that these two genes may not be cancer-relate …
53 results