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David S Sinasac Selected Research

citrin

12/2019Pivotal role of inter-organ aspartate metabolism for treatment of mitochondrial aspartate-glutamate carrier 2 (citrin) deficiency, based on the mouse model.
1/2017Oral aversion to dietary sugar, ethanol and glycerol correlates with alterations in specific hepatic metabolites in a mouse model of human citrin deficiency.
9/2015Mechanism 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.
11/2012Effects 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.
12/2011Metabolomic analysis reveals hepatic metabolite perturbations in citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mice, a model of human citrin deficiency.
8/2007Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency.
5/2006Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice.
1/2004Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.

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David S Sinasac Research Topics

Disease

7Adult-onset citrullinemia type 2
12/2019 - 05/2006
5Citrullinemia
11/2012 - 01/2004
4Hyperammonemia
12/2019 - 01/2004
3Intrahepatic Cholestasis
11/2012 - 08/2007
2Body Weight (Weight, Body)
11/2012 - 02/2009
2Obesity
02/2009 - 01/2007
2Fatty Liver
08/2007 - 01/2007
13-Hydroxyisobutyric aciduria
01/2022
1Cardiomyopathies (Cardiomyopathy)
11/2019
1NGLY1 deficiency
09/2019
1Coarse facial features
09/2017
1Free sialic acid storage disease
09/2017
1Cognitive Dysfunction
09/2017
1Cardiomegaly (Heart Hypertrophy)
09/2017
1Muscle Hypotonia (Hypotonia)
09/2017
1Sialic Acid Storage Disease (Salla Disease)
09/2017
1Infections
11/2014
1Virus Diseases (Viral Diseases)
11/2014
1Neonatal-onset citrullinemia type 2
11/2012
1Hypoglycemia (Reactive Hypoglycemia)
08/2007

Drug/Important Bio-Agent (IBA)

8citrinIBA
12/2019 - 01/2004
4aspartate-glutamate carrierIBA
12/2019 - 01/2004
4Glycerolphosphate Dehydrogenase (Glycerol 3 Phosphate Dehydrogenase)IBA
09/2015 - 08/2007
3CarbohydratesIBA
12/2019 - 02/2009
3Sucrose (Saccharose)IBA
01/2017 - 08/2007
3Pyruvic Acid (Pyruvate)IBA
11/2012 - 08/2007
2Oxidoreductases (Dehydrogenase)IBA
01/2022 - 12/2019
2Alanine (L-Alanine)FDA Link
12/2019 - 11/2012
2Lactic Acid (Lactate)FDA LinkGeneric
11/2019 - 08/2007
2Glycerol (Glycerine)FDA LinkGeneric
01/2017 - 09/2015
2Triglycerides (Triacylglycerol)IBA
11/2012 - 01/2007
2SodiumIBA
11/2012 - 12/2011
2NAD (NADH)IBA
08/2007 - 05/2006
1Valine (L-Valine)FDA Link
01/2022
13-hydroxyisobutyric acidIBA
01/2022
1EnzymesIBA
01/2022
1Aspartic Acid (Aspartate)FDA Link
12/2019
1Dietary ProteinsIBA
12/2019
1Pharmaceutical PreparationsIBA
11/2019
1S-Adenosylmethionine (Ademetionine)IBA
09/2019
1S-AdenosylhomocysteineIBA
09/2019
1Methionine (L-Methionine)FDA Link
09/2019
1N-Acetylneuraminic Acid (Sialic Acid)IBA
09/2017
1Dietary SugarsIBA
01/2017
1Ethanol (Ethyl Alcohol)IBA
01/2017
1Protein Isoforms (Isoforms)IBA
09/2015
1alpha-glycerophosphoric acid (sodium glycerophosphate)IBA
09/2015
1CytokinesIBA
11/2014
1Amino AcidsFDA Link
11/2012
1Sodium Glutamate (Accent)IBA
11/2012
1Proteins (Proteins, Gene)FDA Link
11/2012
1Starch (Cornstarch)IBA
11/2012
1Therapeutic UsesIBA
12/2011
1Glucose (Dextrose)FDA LinkGeneric
02/2009
1Insulin (Novolin)FDA Link
02/2009
1CholesterolIBA
01/2007
1Nonesterified Fatty Acids (NEFA)IBA
01/2007
1CCAAT-Enhancer-Binding Protein-betaIBA
01/2007
1Transcription Factors (Transcription Factor)IBA
01/2007
1Urea (Carbamide)FDA LinkGeneric
05/2006
1Argininosuccinate Synthase (Argininosuccinate Synthetase)IBA
01/2004

Therapy/Procedure

2Oral Administration
12/2019 - 12/2011