Label-Free Quantitative Proteomics in a Methylmalonyl-CoA Mutase-Silenced Neuroblastoma Cell Line

@inproceedings{Costanzo2018LabelFreeQP,
  title={Label-Free Quantitative Proteomics in a Methylmalonyl-CoA Mutase-Silenced Neuroblastoma Cell Line},
  author={Michele Costanzo and Armando Cevenini and Emanuela Marchese and Esther Imperlini and Maddalena Raia and Luigi del Vecchio and Marianna Caterino and Margherita Ruoppolo},
  booktitle={International journal of molecular sciences},
  year={2018}
}
Methylmalonic acidemias (MMAs) are inborn errors of metabolism due to the deficient activity of methylmalonyl-CoA mutase (MUT). MUT catalyzes the formation of succinyl-CoA from methylmalonyl-CoA, produced from propionyl-CoA catabolism and derived from odd chain fatty acids β-oxidation, cholesterol, and branched-chain amino acids degradation. Increased methylmalonyl-CoA levels allow for the presymptomatic diagnosis of the disease, even though no approved therapies exist. MMA patients show… CONTINUE READING
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