3-METHYLGLUTACONIC ACID
| Title | Journal |
|---|---|
| Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle. | Molecular genetics and metabolism 20121101 |
| No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome. | Journal of inherited metabolic disease 20120901 |
| POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria. | Gene 20120510 |
| The 3-methylglutaconic acidurias: what's new? | Journal of inherited metabolic disease 20120101 |
| Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion. | Molecular genetics and metabolism 20111101 |
| Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria. | Clinical genetics 20110901 |
| Neurochemical evidence that 3-methylglutaric acid inhibits synaptic Na+,K+-ATPase activity probably through oxidative damage in brain cortex of young rats. | International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 20110201 |
| Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria). | Folia neuropathologica 20110101 |
| A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3. | Development (Cambridge, England) 20100801 |
| OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. | Molecular genetics and metabolism 20100601 |
| Oxidative stress-dependent p66Shc phosphorylation in skin fibroblasts of children with mitochondrial disorders. | Biochimica et biophysica acta 20100101 |
| Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70. | Molecular genetics and metabolism 20100101 |
| Striatum is more vulnerable to oxidative damage induced by the metabolites accumulating in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency as compared to liver. | International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 20090601 |
| Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. | Brain : a journal of neurology 20090101 |
| Costeff optic atrophy syndrome: new clinical case and novel molecular findings. | Journal of inherited metabolic disease 20081201 |
| Induction of oxidative stress by the metabolites accumulating in 3-methylglutaconic aciduria in cerebral cortex of young rats. | Life sciences 20080312 |
| A missense mutation in the murine Opa3 gene models human Costeff syndrome. | Brain : a journal of neurology 20080201 |
| Barth syndrome is associated with a cognitive phenotype. | Journal of developmental and behavioral pediatrics : JDBP 20070201 |
| 3-methylglutaconic aciduria type 4 manifesting as Leigh syndrome in 2 siblings. | Journal of child neurology 20070201 |
| 3-Methylglutaconic aciduria type I causes leukoencephalopathy of adult onset. | Neurology 20061128 |
| Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria. | Journal of inherited metabolic disease 20060801 |
| Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. | Molecular genetics and metabolism 20060501 |
| Microsphere-based protease assays and screening application for lethal factor and factor Xa. | Cytometry. Part A : the journal of the International Society for Analytical Cytology 20060501 |
| Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism. | The FEBS journal 20060501 |
| NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. | NMR in biomedicine 20060401 |
| 3-methylglutaconic aciduria disorders: the clinical spectrum increases. | Journal of pediatric hematology/oncology 20060201 |
| A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I. | Pediatrics international : official journal of the Japan Pediatric Society 20051201 |
| A biosynthetic pathway to isovaleryl-CoA in myxobacteria: the involvement of the mevalonate pathway. | Chembiochem : a European journal of chemical biology 20050201 |
| 3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features. | Molecular genetics and metabolism 20050101 |
| OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria. | Journal of inherited metabolic disease 20050101 |
| 3-methylglutaconic aciduria type I in a boy with fever-associated seizures. | Pediatric neurology 20040301 |
| Barth syndrome without 3-methylglutaconic aciduria. | Acta paediatrica (Oslo, Norway : 1992) 20040301 |
| Phospholipid abnormalities in children with Barth syndrome. | Journal of the American College of Cardiology 20031203 |
| Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study. | Molecular genetics and metabolism 20031201 |
| Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. | Human mutation 20030401 |
| Little known killer: Barth syndrome. | South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 20030401 |
| 3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. | Molecular genetics and metabolism 20020701 |
| Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome. | Journal of human genetics 20020101 |
| Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism. | BMC pediatrics 20020101 |
| Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. | American journal of human genetics 20011201 |
| Preliminary evidence for a cognitive phenotype in Barth syndrome. | American journal of medical genetics 20010901 |
| Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria. | Journal of child neurology 20010201 |