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The model of citrin deficiency: Adopting a new approach to rare diseases

Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108274, Article 108274

2024

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Diabetic foot caused by pancreatic diabetes with adult-onset type II citrullinaemia

Indian journal of dermatology, 2023-07, Vol.68 (4), p.488-488

2023

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Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver

Molecular genetics and metabolism reports, 2023-06, Vol.35, p.100967, Article 100967

2023

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Adult-onset type II citrullinemia manifested as hepatosteatosis or steatohepatitis: A report of three Chinese cases

Journal of digestive diseases, 2022-04, Vol.23 (4), p.240-245

2022

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Adult‐onset type II citrullinemia manifested as hepatosteatosis or steatohepatitis: A report of three Chinese cases

Journal of digestive diseases, 2022-04, Vol.23 (4), p.240-245

2022

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AGC2 (Citrin) Deficiency-From Recognition of the Disease till Construction of Therapeutic Procedures

Biomolecules (Basel, Switzerland), 2020-07, Vol.10 (8), p.1100

2020

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mRNA Therapy Improves Metabolic and Behavioral Abnormalities in a Murine Model of Citrin Deficiency

Molecular therapy, 2019-07, Vol.27 (7), p.1242-1251

2019

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Pivotal role of inter-organ aspartate metabolism for treatment of mitochondrial aspartate-glutamate carrier 2 (citrin) deficiency, based on the mouse model

Scientific reports, 2019-03, Vol.9 (1), p.4179-4179, Article 4179

2019

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Citrin Deficiency

Human Pathobiochemistry, 2019, p.3-14

2019

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Oral aversion to dietary sugar, ethanol and glycerol correlates with alterations in specific hepatic metabolites in a mouse model of human citrin deficiency

Molecular genetics and metabolism, 2017-04, Vol.120 (4), p.306-316

2017

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Circulating tricarboxylic acid cycle metabolite levels in citrin-deficient children with metabolic adaptation, with and without sodium pyruvate treatment

Molecular genetics and metabolism, 2017-03, Vol.120 (3), p.207-212

2017

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Chronic hepatitis without hepatic steatosis caused by citrin deficiency in a child

Hepatology Research, 2016, Vol.46 (4), p.357-362

2016

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Chronic hepatitis without hepatic steatosis caused by citrin deficiency in a child

Hepatology research, 2016-04, Vol.46 (4), p.357-362

2016

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Chronic hepatitis without hepatic steatosis caused by citrin deficiency in a child

Hepatology research : the official journal of the Japan Society of Hepatology, 2016, Vol.46 (4), p.357-362

2016

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Mechanism for increased hepatic glycerol synthesis in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse: Urine glycerol and glycerol 3-phosphate as potential diagnostic markers of human citrin deficiency

Biochimica et biophysica acta. Molecular basis of disease, 2015-09, Vol.1852 (9), p.1787-1795

2015

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Screening for Five Prevalent Mutations of SLC25A13 Gene in Guangdong, China: A Molecular Epidemiologic Survey of Citrin Deficiency

The Tohoku Journal of Experimental Medicine, 2014, Vol.233(4), pp.275-281

2014

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Cytosolic reducing power preserves glutamate in retina

Proceedings of the National Academy of Sciences - PNAS, 2013-11, Vol.110 (46), p.18501-18506

2013

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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

PloS one, 2013-09, Vol.8 (9), p.e74544

2013

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Calcium-regulation of mitochondrial respiration maintains ATP homeostasis and requires ARALAR/AGC1-malate aspartate shuttle in intact cortical neurons

The Journal of neuroscience, 2013-08, Vol.33 (35), p.13957-13971

2013

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A 73-year-old patient with adult-onset type II citrullinemia successfully treated by sodium pyruvate and arginine

Clinical neurology and neurosurgery, 2013-08, Vol.115 (8), p.1542-1545

2013

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Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis

World journal of gastroenterology : WJG, 2013-07, Vol.19 (28), p.4545-4551

2013

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AGC1‐malate aspartate shuttle activity is critical for dopamine handling in the nigrostriatal pathway

Journal of neurochemistry, 2013-02, Vol.124 (3), p.347-362

2013

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AGC 1‐malate aspartate shuttle activity is critical for dopamine handling in the nigrostriatal pathway

Journal of neurochemistry, 2013-02, Vol.124 (3), p.347-362

2013

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Effects of supplementation on food intake, body weight and hepatic metabolites in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse model of human citrin deficiency

Molecular genetics and metabolism, 2012-11, Vol.107 (3), p.322-329

2012

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Biochemical characteristics of neonatal cholestasis induced by citrin deficiency

World journal of gastroenterology : WJG, 2012-10, Vol.18 (39), p.5601-5607

2012

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The model of citrin deficiency: Adopting a new approach to rare diseases

Diabetic foot caused by pancreatic diabetes with adult-onset type II citrullinaemia

Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver

Adult-onset type II citrullinemia manifested as hepatosteatosis or steatohepatitis: A report of three Chinese cases

Adult‐onset type II citrullinemia manifested as hepatosteatosis or steatohepatitis: A report of three Chinese cases

AGC2 (Citrin) Deficiency-From Recognition of the Disease till Construction of Therapeutic Procedures

mRNA Therapy Improves Metabolic and Behavioral Abnormalities in a Murine Model of Citrin Deficiency

Pivotal role of inter-organ aspartate metabolism for treatment of mitochondrial aspartate-glutamate carrier 2 (citrin) deficiency, based on the mouse model

Citrin Deficiency

Oral aversion to dietary sugar, ethanol and glycerol correlates with alterations in specific hepatic metabolites in a mouse model of human citrin deficiency

Circulating tricarboxylic acid cycle metabolite levels in citrin-deficient children with metabolic adaptation, with and without sodium pyruvate treatment

Chronic hepatitis without hepatic steatosis caused by citrin deficiency in a child

Chronic hepatitis without hepatic steatosis caused by citrin deficiency in a child

Chronic hepatitis without hepatic steatosis caused by citrin deficiency in a child

Mechanism for increased hepatic glycerol synthesis in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse: Urine glycerol and glycerol 3-phosphate as potential diagnostic markers of human citrin deficiency

Screening for Five Prevalent Mutations of SLC25A13 Gene in Guangdong, China: A Molecular Epidemiologic Survey of Citrin Deficiency

Cytosolic reducing power preserves glutamate in retina

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

Calcium-regulation of mitochondrial respiration maintains ATP homeostasis and requires ARALAR/AGC1-malate aspartate shuttle in intact cortical neurons

A 73-year-old patient with adult-onset type II citrullinemia successfully treated by sodium pyruvate and arginine

Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis

AGC1‐malate aspartate shuttle activity is critical for dopamine handling in the nigrostriatal pathway

AGC 1‐malate aspartate shuttle activity is critical for dopamine handling in the nigrostriatal pathway

Effects of supplementation on food intake, body weight and hepatic metabolites in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse model of human citrin deficiency

Biochemical characteristics of neonatal cholestasis induced by citrin deficiency

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