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)
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).
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)