Disruption of brain redox homeostasis in glutaryl-CoA dehydrogenase deficient mice treated with high dietary lysine supplementation.
Mol. Genet. Metab., Nov (2012)
Reduction of Na(+), K(+)-ATPase activity and expression in cerebral cortex of glutaryl-CoA dehydrogenase deficient mice: A possible mechanism for brain injury in glutaric aciduria type I.
Mol. Genet. Metab., Nov;107(3):375-82 (2012)
Marked reduction of Na(+), K(+)-ATPase and creatine kinase activities induced by acute lysine administration in glutaryl-CoA dehydrogenase deficient mice.
Mol. Genet. Metab., Sep;107(1-2):81-6 (2012)
Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.
Mol. Genet. Metab., Sep;107(1-2):72-80 (2012)
Induction of oxidative stress in brain of glutaryl-CoA dehydrogenase deficient mice by acute lysine administration.
Mol. Genet. Metab., May;106(1):31-8 (2012)
Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant.
Mol. Genet. Metab., Nov;104(3):261-4 (2011)
Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells.
J. Biol. Chem., May;286(20):17777-84 (2011)
Diagnosis and management of glutaric aciduria type I--revised recommendations.
J. Inherit. Metab. Dis., Jun;34(3):677-94 (2011)
Evidence for an association between infant mortality and a carnitine palmitoyltransferase 1A genetic variant.
Pediatrics., Nov;126(5):945-51 (2010)
Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I.
Brain., Jan;134(Pt 1):157-70 (2011)
Prevalence and distribution of the c.1436Câ†’T sequence variant of carnitine palmitoyltransferase 1A among Alaska Native infants.
J. Pediatr., Jan;158(1):124-9 (2011)
Hepatocyte-targeted HFE and TFR2 control hepcidin expression in mice.
Blood., Apr;115(16):3374-81 (2010)
Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1.
Biochim. Biophys. Acta., Jun;1782(6):385-90 (2008)
3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3.
J. Mol. Med., Jul;85(7):763-70 (2007)
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J. Inherit. Metab. Dis., Feb;30(1):5-22 (2007)
Lysine intake and neurotoxicity in glutaric aciduria type I: towards a rationale for therapy?
Brain., Aug;129(Pt 8):e54 (2006)
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.
Pediatr. Res., Jun;59(6):840-7 (2006)
Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency.
J. Neurochem., May;97(3):899-910 (2006)
The role of the mitochondrion in cellular iron homeostasis.
Mitochondrion., Jun;1(1):51-60 (2001)
Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A.
J. Biol. Chem., Jun;280(23):21830-6 (2005)
Challenges for basic research in glutaryl-CoA dehydrogenase deficiency.
J. Inherit. Metab. Dis., 27(6):843-9 (2004)
Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I.
J. Inherit. Metab. Dis., 27(6):829-34 (2004)
Animal models for glutaryl-CoA dehydrogenase deficiency.
J. Inherit. Metab. Dis., 27(6):813-8 (2004)
The mitochondrial ABC transporter Atm1p functions as a homodimer.
FEBS Lett., Jul;569(1-3):65-9 (2004)
Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency.
Ann. Neurol., Jan;55(1):7-12 (2004)
Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: the mouse homologs of genes responsible for glutaric acidemia type II in human.
Genomics., Apr;33(1):131-4 (1996)
Cloning, structure, and chromosome localization of the mouse glutaryl-CoA dehydrogenase gene.
Genomics., Aug;28(3):508-12 (1995)
Evidence that the pathway of transferrin receptor mRNA degradation involves an endonucleolytic cleavage within the 3' UTR and does not involve poly(A) tail shortening.
EMBO J., Apr;13(8):1969-80 (1994)
Distal regulatory elements from the mouse metallothionein locus stimulate gene expression in transgenic mice.
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Regulation of thymidylate synthase in human colon cancer cells treated with 5-fluorouracil and interferon-gamma.
Mol. Pharmacol., Apr;43(4):527-33 (1993)
Identification of an RNA binding site for human thymidylate synthase.
Proc. Natl. Acad. Sci. U.S.A., Jan;90(2):517-21 (1993)
Autoregulation of human thymidylate synthase messenger RNA translation by thymidylate synthase.
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Translation and the stability of mRNAs encoding the transferrin receptor and c-fos.
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Induction of thymidylate synthase associated with multidrug resistance in human breast and colon cancer cell lines.
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Hypertension and renal failure in a patient with tuberous sclerosis.
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Iron regulation of transferrin receptor mRNA levels requires iron-responsive elements and a rapid turnover determinant in the 3' untranslated region of the mRNA.
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A cytosolic protein binds to structural elements within the iron regulatory region of the transferrin receptor mRNA.
Proc. Natl. Acad. Sci. U.S.A., May;86(10):3574-8 (1989)
A model for the structure and functions of iron-responsive elements.
Gene., Dec;72(1-2):201-8 (1988)
Iron-responsive elements: regulatory RNA sequences that control mRNA levels and translation.
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