A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency
about
Tissue-specific strategies of the very-long chain acyl-CoA dehydrogenase-deficient (VLCAD-/-) mouse to compensate a defective fatty acid β-oxidationIdentification and characterization of new long chain acyl-CoA dehydrogenasesA general introduction to the biochemistry of mitochondrial fatty acid β-oxidationDifferences in muscle transcriptome among pigs phenotypically extreme for fatty acid compositionMitochondrial long chain fatty acid beta-oxidation in man and mouseCharacterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screeningLong-chain acyl-CoA dehydrogenase deficiency as a cause of pulmonary surfactant dysfunctionDeep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy MetabolismLethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency.The human and mouse SLC25A29 mitochondrial transporters rescue the deficient ornithine metabolism in fibroblasts of patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.Mouse studies to shape clinical trials for mitochondrial diseases: high fat diet in Harlequin miceMutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delayComplex changes in the liver mitochondrial proteome of short chain acyl-CoA dehydrogenase deficient mice.Heterogeneous N-terminal acylation of retinal proteins results from the retina's unusual lipid metabolismMitochondria and Oxidative Stress in the Cardiorenal Metabolic Syndrome.Newborn screening: After the thrill is gone.Effects of labor on placental fatty acid β oxidation.Role of mitochondrial dysfunction in insulin resistance.Evaluation of the child with suspected mitochondrial liver diseaseAn atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach.Low expression of long-chain acyl-CoA dehydrogenase in human skeletal muscleThe enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results.Perspectives and potential applications of mitochondria-targeted antioxidants in cardiometabolic diseases and type 2 diabetes.Peroxisome-mitochondria interplay and disease.Inherited metabolic disorders presenting as acute liver failure in newborns and young children: King's College Hospital experience.Aspirin increases mitochondrial fatty acid oxidation.Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment.Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients.Development of a new enzymatic diagnosis method for very-long-chain Acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in JapanAdvances in the Understanding and Treatment of Mitochondrial Fatty Acid Oxidation Disorders.Role of peroxisome proliferator-activated receptor alpha in the expression of hepatic fatty acid oxidation-related genes in chickens.Identification of the Catalytic Residue of Rat Acyl-CoA Dehydrogenase 9 by Site-Directed Mutagenesis.Investigating the bioavailability of graphene quantum dots in lung tissues via Fourier transform infrared spectroscopy.Mitoregulin: A lncRNA-Encoded Microprotein that Supports Mitochondrial Supercomplexes and Respiratory EfficiencyRiboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old geneAnalysis of a range of catabolic mutants provides evidence that phytanoyl-coenzyme A does not act as a substrate of the electron-transfer flavoprotein/electron-transfer flavoprotein:ubiquinone oxidoreductase complex in Arabidopsis during dark-induced
P2860
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P2860
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency
description
2007 nî lūn-bûn
@nan
2007 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
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
name
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency
@ast
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency
@en
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency
@nl
type
label
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency
@ast
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency
@en
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency
@nl
prefLabel
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency
@ast
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency
@en
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency
@nl
P2093
P2860
P3181
P356
P1476
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency
@en
P2093
C A Palmer
N Majumder
P A Watkins
R D Nicholls
S L Rutledge
P2860
P304
P3181
P356
10.1086/519219
P407
P577
2007-07-01T00:00:00Z