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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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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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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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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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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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Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency

Journal of human genetics, 2005-07, Vol.50 (7), p.338-346

2005

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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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Neonatal presentation of adult-onset type II citrullinemia

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

2001

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Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle

Molecular genetics and metabolism, 2004-04, Vol.81, p.20-26

2004

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Novel diagnostic approach to citrin deficiency: Analysis of citrin protein in lymphocytes

Molecular genetics and metabolism, 2007, Vol.90 (1), p.30-36

2007

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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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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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Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency

Journal of inherited metabolic disease, 2006-08, Vol.29 (4), p.551-555

2006

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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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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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Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period

Molecular genetics and metabolism, 2009-05, Vol.97 (1), p.21-26

2009

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The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

Nature genetics, 1999-06, Vol.22 (2), p.159-163

1999

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Induction of PDK4 in the heart muscle of JVS mice, an animal model of systemic carnitine deficiency, does not appear to reduce glucose utilization by the heart

Molecular genetics and metabolism, 2011-03, Vol.102 (3), p.349-355

2011

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Increased insulin sensitivity despite lipodystrophy in Crebbp heterozygous mice

Nature genetics, 2002-02, Vol.30 (2), p.221-226

2002

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Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations

Human mutation, 2002-02, Vol.19 (2), p.122-130

2002

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Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency

Human mutation, 1998, Vol.11 (S1), p.S5-S7

1998

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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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Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations

Molecular genetics and metabolism, 2003-11, Vol.80 (3), p.356-359

2003

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

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

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

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

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

Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with 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

Neonatal presentation of adult-onset type II citrullinemia

Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle

Novel diagnostic approach to citrin deficiency: Analysis of citrin protein in lymphocytes

Citrin deficiency and current treatment concepts

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

Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency

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

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

Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

Induction of PDK4 in the heart muscle of JVS mice, an animal model of systemic carnitine deficiency, does not appear to reduce glucose utilization by the heart

Increased insulin sensitivity despite lipodystrophy in Crebbp heterozygous mice

Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations

Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency

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

Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations

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