Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

Mitochondrial respiratory chain dysfunction has been identified in a number of neurodegenerative disorders. Infantile cerebellar-retinal degeneration associated with mutations in the mitochondrial aconitase 2 gene (ACO2) has been recently described as a neurodegenerative disease of autosomal recessi...

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Veröffentlicht in:	PloS one 2017-05, Vol.12 (5), p.e0176363-e0176363
Hauptverfasser:	Abela, Lucia, Spiegel, Ronen, Crowther, Lisa M, Klein, Andrea, Steindl, Katharina, Papuc, Sorina Mihaela, Joset, Pascal, Zehavi, Yoav, Rauch, Anita, Plecko, Barbara, Simmons, Thomas Luke
Format:	Artikel
Sprache:	eng
Schlagworte:	4-Hydroxynonenal Abnormalities Acetic acid Acidosis Aconitase Aconitate Hydratase - deficiency Aconitate Hydratase - genetics Aconitic Acid - blood Adenine Adenosine triphosphate Adolescent Aging Aging (artificial) Alanine Alzheimer's disease AMP AMP-activated protein kinase Analysis Antioxidants Assaying Ataxia ATP Autosomal recessive inheritance Biocompatibility Bioindicators Biology and Life Sciences Biomarkers Biomarkers - blood Biosynthesis Blood plasma Brain Brain research Carbohydrates Carbon dioxide Catalysis Cerebellum Child Child, Preschool Children Children & youth Computer programs Control Dehydrogenase Dehydrogenases Deoxyribonucleic acid Diagnosis DNA Enzymatic activity Enzymes Families & family life Fatty acids Female Gene expression Genetic screening Genetics Guardians Health aspects Heredodegenerative Disorders, Nervous System - blood Heredodegenerative Disorders, Nervous System - diagnosis Hospitals Humans Huntingtons disease Hydroxybutyrates - blood Inactivation Infections Insects Iron Isocitrates - blood Ketoglutaric acid Ketoglutaric Acids - blood Kidneys Kinases Liver Lobes Male Medical diagnosis Medicine Metabolism Metabolites Metabolomics Metabolomics - methods Missense mutation Mitochondria Mitochondrial DNA Movement disorders Mutation Neurodegeneration Neurodegenerative diseases Neurology Oxidative stress Paralysis Pediatrics People and Places Pharmacology Phosphoenolpyruvate - blood Plasmas (physics) Poisoning Proteins Proteomics Respiration Retina Urine
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