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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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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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Brain glutamine synthesis requires neuronal-born aspartate as amino donor for glial glutamate formation

Journal of cerebral blood flow and metabolism, 2011-01, Vol.31 (1), p.90-101

2011

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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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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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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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Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency

Journal of human genetics, 2008-06, Vol.53 (6), p.534-545

2008

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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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Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)

Journal of human genetics, 2002-07, Vol.47 (7), p.333-341

2002

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Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13

Molecular genetics and metabolism, 2012-04, Vol.105 (4), p.553-558

2012

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The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia

Journal of gastroenterology, 2011-04, Vol.46 (4), p.510-518

2011

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Deficiency of the mitochondrial transporter of aspartate/glutamate aralar/AGC1 causes hypomyelination and neuronal defects unrelated to myelin deficits in mouse brain

Journal of neuroscience research, 2011-12, Vol.89 (12), p.2008-2017

2011

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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.100967-100967, Article 100967

2023

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Essential Role of Aralar in the Transduction of Small Ca+ Signals to Neuronal Mitochondria

The Journal of biological chemistry, 2006-01, Vol.281 (2), p.1039-1047

2006

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Conventional Diet Therapy for Hyperammonemia is Risky in the Treatment of Hepatic Encephalopathy Associated with Citrin Deficiency

Internal Medicine, 2010, Vol.49(3), pp.243-247

2010

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Low levels of citrin (SLC25A13) expression in adult mouse brain restricted to neuronal clusters

Journal of neuroscience research, 2010-04, Vol.88 (5), p.1009-1016

2010

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Altered postnatal development of cortico-hippocampal neuronal electric activity in mice deficient for the mitochondrial aspartate-glutamate transporter

Journal of cerebral blood flow and metabolism, 2012-02, Vol.32 (2), p.306-317

2012

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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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Metabolomic analysis reveals hepatic metabolite perturbations in citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mice, a model of human citrin deficiency

Molecular genetics and metabolism, 2011-12, Vol.104 (4), p.492-500

2011

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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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Role of aralar, the mitochondrial transporter of aspartate-glutamate, in brain N-acetylaspartate formation and Ca2+ signaling in neuronal mitochondria

Journal of neuroscience research, 2007-11, Vol.85 (15), p.3359-3366

2007

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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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Citrin/Mitochondrial Glycerol-3-phosphate Dehydrogenase Double Knock-out Mice Recapitulate Features of Human Citrin Deficiency

The Journal of biological chemistry, 2007-08, Vol.282 (34), p.25041-25052

2007

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

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

Brain glutamine synthesis requires neuronal-born aspartate as amino donor for glial glutamate formation

Cytosolic reducing power preserves glutamate in retina

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

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

Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency

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

Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)

Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13

The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia

Deficiency of the mitochondrial transporter of aspartate/glutamate aralar/AGC1 causes hypomyelination and neuronal defects unrelated to myelin deficits in mouse brain

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

Essential Role of Aralar in the Transduction of Small Ca+ Signals to Neuronal Mitochondria

Conventional Diet Therapy for Hyperammonemia is Risky in the Treatment of Hepatic Encephalopathy Associated with Citrin Deficiency

Low levels of citrin (SLC25A13) expression in adult mouse brain restricted to neuronal clusters

Altered postnatal development of cortico-hippocampal neuronal electric activity in mice deficient for the mitochondrial aspartate-glutamate transporter

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

Metabolomic analysis reveals hepatic metabolite perturbations in citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mice, a model of human citrin deficiency

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

Role of aralar, the mitochondrial transporter of aspartate-glutamate, in brain N-acetylaspartate formation and Ca2+ signaling in neuronal mitochondria

Biochemical characteristics of neonatal cholestasis induced by citrin deficiency

Citrin/Mitochondrial Glycerol-3-phosphate Dehydrogenase Double Knock-out Mice Recapitulate Features of Human Citrin Deficiency

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