ArticleInternational journal of molecular sciences2018
Label-Free Quantitative Proteomics in a Methylmalonyl-CoA Mutase-Silenced Neuroblastoma Cell Line.
Article in International journal of molecular sciences, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 39 citations in OpenAlex.
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- Metabolo-epigenetic interplay provides targeted nutritional interventions in chronic diseases and ageing.Frontiers in oncology · 2023Review
- Insight into the Molecular Signature of Skeletal Muscle Characterizing Lifelong Football Players.International journal of environmental research and public health · 2022Article
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- Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy.Human molecular genetics · 2022Article
- Proteome data of neuroblastoma cells overexpressing Neuroglobin.Data in brief · 2022Article
- COVIDomics: The Proteomic and Metabolomic Signatures of COVID-19.International journal of molecular sciences · 2022Review
- Does the Urinary Proteome Reflect ccRCC Stage and Grade Progression?Diagnostics (Basel, Switzerland) · 2021Article
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- Single-Cell Multiomics Analysis for Drug Discovery.Metabolites · 2021Review
- The Serum Metabolome of Moderate and Severe COVID-19 Patients Reflects Possible Liver Alterations Involving Carbon and Nitrogen Metabolism.International journal of molecular sciences · 2021Article
- Proteomic and Bioinformatic Investigation of Altered Pathways in Neuroglobin-Deficient Breast Cancer Cells.Molecules (Basel, Switzerland) · 2021Article
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- Dataset of a comparative proteomics experiment in a methylmalonyl-CoA mutase knockout HEK 293 cell model.Data in brief · 2020Article
- Review
- Proteomics Reveals that Methylmalonyl-CoA Mutase Modulates Cell Architecture and Increases Susceptibility to Stress.International journal of molecular sciences · 2020Article
- Liposome-Embedding Silicon Microparticle for Oxaliplatin Delivery in Tumor Chemotherapy.Pharmaceutics · 2020Article
- Targeted Metabolomic Analysis of a Mucopolysaccharidosis IIIB Mouse Model Reveals an Imbalance of Branched-Chain Amino Acid and Fatty Acid Metabolism.International journal of molecular sciences · 2020Article
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 hyperammonemia, ketoacidosis, lethargy, respiratory distress, cognitive impairment, and hepatomegaly. The long-term consequences concern neurologic damage and terminal kidney failure, with little chance of survival. The cellular pathways affected by MUT deficiency were investigated using a quantitative proteomics approach on a cellular model of MUT knockdown. Currently, a consistent reduction of the MUT protein expression was obtained in the neuroblastoma cell line (SH-SY5Y) by using small-interfering RNA (siRNA) directed against an MUT transcript (MUT siRNA). The MUT absence did not affect the cell viability and apoptotic process in SH-SY5Y. In the present study, we evaluate and quantify the alterations in the protein expression profile as a consequence of MUT-silencing by a mass spectrometry-based label-free quantitative analysis, using two different quantitative strategies. Both quantitative methods allowed us to observe that the expression of the proteins involved in mitochondrial oxido-reductive homeostasis balance was affected by MUT deficiency. The alterated functional mitochondrial activity was observed in siRNA_MUT cells cultured with a propionate-supplemented medium. Finally, alterations in the levels of proteins involved in the metabolic pathways, like carbohydrate metabolism and lipid metabolism, were found.
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