Detalhe da pesquisa
1.
mRNA Therapy Improves Metabolic and Behavioral Abnormalities in a Murine Model of Citrin Deficiency.
Mol Ther
; 27(7): 1242-1251, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31056400
2.
Oral aversion to dietary sugar, ethanol and glycerol correlates with alterations in specific hepatic metabolites in a mouse model of human citrin deficiency.
Mol Genet Metab
; 120(4): 306-316, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28259708
3.
Circulating tricarboxylic acid cycle metabolite levels in citrin-deficient children with metabolic adaptation, with and without sodium pyruvate treatment.
Mol Genet Metab
; 120(3): 207-212, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28041819
4.
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.
Biochim Biophys Acta
; 1852(9): 1787-95, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25952905
5.
Chronic hepatitis without hepatic steatosis caused by citrin deficiency in a child.
Hepatol Res
; 46(4): 357-62, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26190322
6.
Cytosolic reducing power preserves glutamate in retina.
Proc Natl Acad Sci U S A
; 110(46): 18501-6, 2013 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-24127593
7.
Calcium-regulation of mitochondrial respiration maintains ATP homeostasis and requires ARALAR/AGC1-malate aspartate shuttle in intact cortical neurons.
J Neurosci
; 33(35): 13957-71, 13971a, 2013 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-23986233
8.
Screening for five prevalent mutations of SLC25A13 gene in Guangdong, China: a molecular epidemiologic survey of citrin deficiency.
Tohoku J Exp Med
; 233(4): 275-81, 2014 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25110155
9.
AGC1-malate aspartate shuttle activity is critical for dopamine handling in the nigrostriatal pathway.
J Neurochem
; 124(3): 347-62, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23216354
10.
Increased insulin sensitivity despite lipodystrophy in Crebbp heterozygous mice.
Nat Genet
; 30(2): 221-6, 2002 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-11818964
11.
Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver.
Mol Genet Metab Rep
; 35: 100967, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36967723
12.
Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13.
Mol Genet Metab
; 105(4): 553-8, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22277121
13.
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.
Mol Genet Metab
; 107(3): 322-9, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22921887
14.
Deficiency of the mitochondrial transporter of aspartate/glutamate aralar/AGC1 causes hypomyelination and neuronal defects unrelated to myelin deficits in mouse brain.
J Neurosci Res
; 89(12): 2008-17, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21608011
15.
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.
Mol Genet Metab
; 102(3): 349-55, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21190881
16.
Metabolomic analysis reveals hepatic metabolite perturbations in citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mice, a model of human citrin deficiency.
Mol Genet Metab
; 104(4): 492-500, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21908222
17.
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.
Biochim Biophys Acta
; 1792(11): 1087-93, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19744557
18.
Low levels of citrin (SLC25A13) expression in adult mouse brain restricted to neuronal clusters.
J Neurosci Res
; 88(5): 1009-16, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19908284
19.
Citrin deficiency and current treatment concepts.
Mol Genet Metab
; 100 Suppl 1: S59-64, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20233664
20.
AGC2 (Citrin) Deficiency-From Recognition of the Disease till Construction of Therapeutic Procedures.
Biomolecules
; 10(8)2020 07 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32722104