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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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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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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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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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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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Fasting-induced reduction in locomotor activity and reduced response of orexin neurons in carnitine-deficient mice

Neuroscience research, 2006-05, Vol.55 (1), p.78-86

2006

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Slc25a13-Knockout Mice Harbor Metabolic Deficits but Fail To Display Hallmarks of Adult-Onset Type II Citrullinemia

Molecular and Cellular Biology, 2004-01, Vol.24 (2), p.527-536

2004

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Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice

Journal of hepatology, 2006-05, Vol.44 (5), p.930-938

2006

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Failure of the feeding response to fasting in carnitine-deficient juvenile visceral steatosis (JVS) mice: Involvement of defective acyl-ghrelin secretion and enhanced corticotropin-releasing factor signaling in the hypothalamus

Biochimica et biophysica acta, 2009-11, Vol.1792 (11), p.1087-1093

2009

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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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Citrin deficiency and current treatment concepts

Molecular genetics and metabolism, 2010, Vol.100, p.S59-S64

2010

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Attenuation of Cardiac Hypertrophy in Carnitine-Deficient Juvenile Visceral Steatosis (JVS) Mice Achieved by Lowering Dietary Lipid

Journal of biochemistry (Tokyo), 2006-02, Vol.139 (2), p.263-270

2006

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Developmental changes in the Ca2+-regulated mitochondrial aspartate-glutamate carrier aralar1 in brain and prominent expression in the spinal cord

Brain research. Developmental brain research, 2003-06, Vol.143 (1), p.33-46

2003

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Ca²⁺ Activation Kinetics of the Two Aspartate-Glutamate Mitochondrial Carriers, Aralar and Citrin: ROLE IN THE HEART MALATE-ASPARTATE NADH SHUTTLE

The Journal of biological chemistry, 2007-03, Vol.282 (10), p.7098-7106

2007

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Role of aralar, the mitochondrial transporter of aspartate-glutamate, in brain N-acetylaspartate formation and Ca(2+) signaling in neuronal mitochondria

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

2007

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Essential role of aralar in the transduction of small Ca2+ signals to neuronal mitochondria

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

2006

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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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Genomic Structure of the Adult-Onset Type II Citrullinemia Gene, SLC25A13, and Cloning and Expression of Its Mouse Homologue

Genomics (San Diego, Calif.), 1999-12, Vol.62 (2), p.289-292

1999

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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

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

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

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

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

Fasting-induced reduction in locomotor activity and reduced response of orexin neurons in carnitine-deficient mice

Slc25a13-Knockout Mice Harbor Metabolic Deficits but Fail To Display Hallmarks of Adult-Onset Type II Citrullinemia

Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice

Failure of the feeding response to fasting in carnitine-deficient juvenile visceral steatosis (JVS) mice: Involvement of defective acyl-ghrelin secretion and enhanced corticotropin-releasing factor signaling in the hypothalamus

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

Citrin deficiency and current treatment concepts

Attenuation of Cardiac Hypertrophy in Carnitine-Deficient Juvenile Visceral Steatosis (JVS) Mice Achieved by Lowering Dietary Lipid

Developmental changes in the Ca2+-regulated mitochondrial aspartate-glutamate carrier aralar1 in brain and prominent expression in the spinal cord

Ca²⁺ Activation Kinetics of the Two Aspartate-Glutamate Mitochondrial Carriers, Aralar and Citrin: ROLE IN THE HEART MALATE-ASPARTATE NADH SHUTTLE

Role of aralar, the mitochondrial transporter of aspartate-glutamate, in brain N-acetylaspartate formation and Ca(2+) signaling in neuronal mitochondria

Essential role of aralar in the transduction of small Ca2+ signals to neuronal mitochondria

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

Genomic Structure of the Adult-Onset Type II Citrullinemia Gene, SLC25A13, and Cloning and Expression of Its Mouse Homologue

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