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

Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency

(2016) Roa Sadat et al.   MOLECULAR GENETICS AND METABOLISM

Advances in mass spectrometry-based clinical biomarker discovery

(2016) Christopher A. Crutchfield et al.   Clinical Proteomics

Oxidative stress, mitochondrial dysfunction and neurodegenerative diseases; a mechanistic insight

(2015) Aashiq Hussain Bhat et al.   BIOMEDICINE & PHARMACOTHERAPY

The Physiological Basis and Nutritional Function of Alpha-ketoglutarate

(2015) Liuqin He et al.   CURRENT PROTEIN & PEPTIDE SCIENCE

N8-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics

(2015) Lucia Abela et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Citrate – new functions for an old metabolite

(2014) Vito Iacobazzi et al.   BIOLOGICAL CHEMISTRY

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

(2014) Metodi Dimitrov Metodiev et al.   JOURNAL OF MEDICAL GENETICS

Impaired energy metabolism in a Drosophila model of mitochondrial aconitase deficiency

(2013) Zhang Cheng et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

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Aconitase post-translational modification as a key in linkage between Krebs cycle, iron homeostasis, redox signaling, and metabolism of reactive oxygen species

(2013) Oleh V. Lushchak et al.   REDOX REPORT

Predicting Network Activity from High Throughput Metabolomics

(2013) Shuzhao Li et al.   PLoS Computational Biology

Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2

(2012) Ronen Spiegel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Meta-analysis of untargeted metabolomic data from multiple profiling experiments

(2012) Gary J Patti et al.   Nature Protocols

Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency

(2011) Amelia R. Mroch et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Oxidative Inactivation of Mitochondrial Aconitase Results in Iron and H2O2-Mediated Neurotoxicity in Rat Primary Mesencephalic Cultures

(2009) David Cantu et al.   PLoS One

Redox proteomics identification of 4-hydroxynonenal-modified brain proteins in Alzheimer's disease: Role of lipid peroxidation in Alzheimer's disease pathogenesis

(2009) Marzia Perluigi et al.   Proteomics Clinical Applications

ProteoWizard: open source software for rapid proteomics tools development

(2008) Darren Kessner et al.   BIOINFORMATICS

Empirical Bayes analysis of single nucleotide polymorphisms

(2008) Holger Schwender et al.   BMC BIOINFORMATICS

Highly sensitive feature detection for high resolution LC/MS

(2008) Ralf Tautenhahn et al.   BMC BIOINFORMATICS