ArticleInternational journal of molecular sciences2020
Proteomics Reveals that Methylmalonyl-CoA Mutase Modulates Cell Architecture and Increases Susceptibility to Stress.
Article in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed.
- Plasma metabolomic profiling reveals metabolic shifts linked to growth depression in broilers fed high level of valine.Poultry science · 2026Article
- Acute reversible cognitive dysfunction due to vitamin B12 deficiency: A case report with rare magnetic resonance imaging findings.The Journal of international medical research · 2026Article
- Methylmalonic acidemia triggers lysosomal-autophagy dysfunctions.Cell & bioscience · 2024Article
- Expression ofMolecular therapy. Nucleic acids · 2023Article
- Article
- Multi-Omics Studies Unveil Extraciliary Functions of BBS10 and Show Metabolic Aberrations Underlying Renal Disease in Bardet-Biedl Syndrome.International journal of molecular sciences · 2022Article
- Sex differences in the human metabolome.Biology of sex differences · 2022Review
- Toxic Metabolites and Inborn Errors of Amino Acid Metabolism: What One Informs about the Other.Metabolites · 2022Review
- 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
- Article
- 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
- Sex Affects Human Premature Neonates' Blood Metabolome According to Gestational Age, Parenteral Nutrition, and Caffeine Treatment.Metabolites · 2021Article
- Dysregulation of lipid metabolism and pathological inflammation in patients with COVID-19.Scientific reports · 2021Article
- Dataset of a comparative proteomics experiment in a methylmalonyl-CoA mutase knockout HEK 293 cell model.Data in brief · 2020Article
- Review
- Secretome Proteomic Approaches for Biomarker Discovery: An Update on Colorectal Cancer.Medicina (Kaunas, Lithuania) · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
Abstract
Methylmalonic acidemia (MMA) is a rare inborn error of metabolism caused by deficiency of the methylmalonyl-CoA mutase (MUT) enzyme. Downstream MUT deficiency, methylmalonic acid accumulates together with toxic metabolites from propionyl-CoA and other compounds upstream of the block in the enzyme pathway. The presentation is with life-threatening acidosis, respiratory distress, brain disturbance, hyperammonemia, and ketosis. Survivors develop poorly understood multi-organ damage, notably to the brain and kidneys. The HEK 293 cell line was engineered by CRISPR/Cas9 technology to knock out the
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.