Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I
about
Identification of the 2-hydroxyglutarate and isovaleryl-CoA dehydrogenases as alternative electron donors linking lysine catabolism to the electron transport chain of Arabidopsis mitochondriaMulti-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiencyIn Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.The human and mouse SLC25A29 mitochondrial transporters rescue the deficient ornithine metabolism in fibroblasts of patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.The human gene SLC25A29, of solute carrier family 25, encodes a mitochondrial transporter of basic amino acids.Glutaric acid-mediated apoptosis in primary striatal neuronsNeonatal astrocyte damage is sufficient to trigger progressive striatal degeneration in a rat model of glutaric acidemia-I.Increased blood-brain barrier permeability and alterations in perivascular astrocytes and pericytes induced by intracisternal glutaric acid.Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency.Diagnosis and management of glutaric aciduria type I--revised recommendations.Mechanistic effects of amino acids and glucose in a novel glutaric aciduria type 1 cell modelAstrocyte Dysfunction in Developmental Neurometabolic Diseases.Effects of targeted suppression of glutaryl-CoA dehydrogenase by lentivirus-mediated shRNA and excessive intake of lysine on apoptosis in rat striatal neurons.N-acetylcysteine prevents spatial memory impairment induced by chronic early postnatal glutaric acid and lipopolysaccharide in rat pups.Increased glutamate receptor and transporter expression in the cerebral cortex and striatum of gcdh-/- mice: possible implications for the neuropathology of glutaric acidemia type I.Ranbp2 haploinsufficiency mediates distinct cellular and biochemical phenotypes in brain and retinal dopaminergic and glia cells elicited by the Parkinsonian neurotoxin, 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP).A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiencyDual mechanism of brain injury and novel treatment strategy in maple syrup urine diseaseDisruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies.Interrupting the mechanisms of brain injury in a model of maple syrup urine disease encephalopathy.Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation.Single amino acid supplementation in aminoacidopathies: a systematic reviewProposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.Higher Vulnerability of Menadione-Exposed Cortical Astrocytes of Glutaryl-CoA Dehydrogenase Deficient Mice to Oxidative Stress, Mitochondrial Dysfunction, and Cell Death: Implications for the Neurodegeneration in Glutaric Aciduria Type I.Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cellsOxidative Stress, Disrupted Energy Metabolism, and Altered Signaling Pathways in Glutaryl-CoA Dehydrogenase Knockout Mice: Potential Implications of Quinolinic Acid Toxicity in the Neuropathology of Glutaric Acidemia Type I.The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I.White matter injury induced by perinatal exposure to glutaric acid.Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters.Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.Induction of Neuroinflammatory Response and Histopathological Alterations Caused by Quinolinic Acid Administration in the Striatum of Glutaryl-CoA Dehydrogenase Deficient Mice.Impairment of astrocytic glutaminolysis in glutaric aciduria type I.Striatal neuronal death mediated by astrocytes from the Gcdh-/- mouse model of glutaric acidemia type I.(1)H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites.Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients.The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin.Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria.
P2860
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P2860
Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Mechanism of age-dependent sus ...... gy in glutaric acidemia type I
@ast
Mechanism of age-dependent sus ...... gy in glutaric acidemia type I
@en
type
label
Mechanism of age-dependent sus ...... gy in glutaric acidemia type I
@ast
Mechanism of age-dependent sus ...... gy in glutaric acidemia type I
@en
prefLabel
Mechanism of age-dependent sus ...... gy in glutaric acidemia type I
@ast
Mechanism of age-dependent sus ...... gy in glutaric acidemia type I
@en
P2093
P2860
P356
P1476
Mechanism of age-dependent sus ...... gy in glutaric acidemia type I
@en
P2093
Cathy Housman
Ian Simpson
James P O'Callaghan
James R Connor
Jelena Lazovic
Kathryn LaNoue
Keith C Cheng
Michael Woontner
Russell E Jacobs
Stephen I Goodman
P2860
P304
P356
10.1172/JCI31617
P407
P577
2007-11-01T00:00:00Z