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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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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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Citrin and aralar1 are Ca2+-stimulated aspartate/glutamate transporters in mitochondria

The EMBO journal, 2001-09, Vol.20 (18), p.5060-5069

2001

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Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease

Journal of hepatology, 2008-11, Vol.49 (5), p.810-820

2008

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Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate

Journal of inherited metabolic disease, 2008-12, Vol.31 (Suppl 2), p.343-347

2008

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Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria

The EMBO journal, 2001-09, Vol.20 (18), p.5060-5069

2001

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Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)

Journal of inherited metabolic disease, 2007-04, Vol.30 (2), p.139-144

2007

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Reduced carbohydrate intake in citrin-deficient subjects

Journal of inherited metabolic disease, 2008-06, Vol.31 (3), p.386-394

2008

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Neonatal intrahepatic cholestasis caused by citrin deficiency: Clinical and laboratory investigation of 13 subjects in mainland of China

Digestive and liver disease, 2009-09, Vol.41 (9), p.683-689

2009

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Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK

Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.151-155

2009

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Neonatal presentation of adult-onset type II citrullinemia

Human genetics, 2001-02, Vol.108 (2), p.87-90

2001

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Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate–glutamate carrier

Hepatology research, 2005-10, Vol.33 (2), p.181-184

2005

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Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation

Journal of neurology, neurosurgery and psychiatry, 2001-11, Vol.71 (5), p.663-670

2001

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Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia

Human genetics, 2000-12, Vol.107 (6), p.537-545

2000

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Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: Clinical significance of portal vein imaging

Journal of inherited metabolic disease, 2004-01, Vol.27 (1), p.11-18

2004

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Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult‐onset type II citrullinemia

Hepatology (Baltimore, Md.), 1997-05, Vol.25 (5), p.1160-1165

1997

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Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients

Molecular genetics and metabolism, 2004-11, Vol.83 (3), p.213-219

2004

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L0048 Suppression of activity of central orexinergic system by lack of OCTN2, a carnitine transporter

Sleep medicine, 2007, Vol.8, p.S109-S110

2007

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High serum pancreatic secretory trypsin inhibitor before onset of type II citrullinemia

Neurology, 2001-09, Vol.57 (5), p.933-933

2001

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Carnitine as a vitamin-like biofactor

Nihon rinshō, 1999-10, Vol.57 (10), p.2270

Saheki, T

1999

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Additive Effects of Betaines on the Fibrinogen Cryogelation Induced by Low Temperature

Transactions of the Materials Research Society of Japan, 2011/09/01, Vol.36(3), pp.393-396

2011

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Type II Citrullinaemia (Citrin Deficiency) in a Neonate with Hypergalactosaemia Detected by Mass Screening

Journal of inherited metabolic disease, 2002-02, Vol.25 (1), p.71-76

2002

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Antagonizing Effect of AP-1 on Glucocorticoid Induction of Urea Cycle Enzymes: A Study of Hyperammonemia in Carnitine-Deficient, Juvenile Visceral Steatosis Mice

Molecular Genetics and Metabolism, 2000-12, Vol.71 (4), p.545-551

2000

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

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

Citrin and aralar1 are Ca2+-stimulated aspartate/glutamate transporters in mitochondria

Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease

Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate

Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria

Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)

Reduced carbohydrate intake in citrin-deficient subjects

Neonatal intrahepatic cholestasis caused by citrin deficiency: Clinical and laboratory investigation of 13 subjects in mainland of China

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK

Neonatal presentation of adult-onset type II citrullinemia

Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate–glutamate carrier

Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation

Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia

Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: Clinical significance of portal vein imaging

Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult‐onset type II citrullinemia

Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients

L0048 Suppression of activity of central orexinergic system by lack of OCTN2, a carnitine transporter

High serum pancreatic secretory trypsin inhibitor before onset of type II citrullinemia

Carnitine as a vitamin-like biofactor

Additive Effects of Betaines on the Fibrinogen Cryogelation Induced by Low Temperature

Type II Citrullinaemia (Citrin Deficiency) in a Neonate with Hypergalactosaemia Detected by Mass Screening

Antagonizing Effect of AP-1 on Glucocorticoid Induction of Urea Cycle Enzymes: A Study of Hyperammonemia in Carnitine-Deficient, Juvenile Visceral Steatosis Mice

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

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

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