ArticleMolecular bioSystems2016
The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient livers.
Article in Molecular bioSystems, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00078078 (Clinical and Basic Investigations of Methylmalonic Acidemia), which is not on this map. Cited by 19 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders
Who cites it
19 citing papers in PubMed, 33 citations in OpenAlex.
- Modeling Inherited Methylmalonic Acidemia Using Isogenic Human Induced Pluripotent Stem Cell-Derived Hepatocytes with Mutations inmicroPublication biology · 2026Article
- Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy.Molecular genetics and metabolism reports · 2025Article
- New insights into the pathophysiology of methylmalonic acidemia.Journal of inherited metabolic disease · 2023Review
- Anaplerosis in action.Nature metabolism · 2023Article
- Proteomics in Inherited Metabolic Disorders.International journal of molecular sciences · 2022Review
- Aberrant methylmalonylation underlies methylmalonic acidemia and is attenuated by an engineered sirtuin.Science translational medicine · 2022Article
- The Effect of Methylmalonic Acid Treatment on Human Neuronal Cell Coenzyme QInternational journal of molecular sciences · 2020Article
- Proteomics Reveals that Methylmalonyl-CoA Mutase Modulates Cell Architecture and Increases Susceptibility to Stress.International journal of molecular sciences · 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
- Proteomic Analysis of Mucopolysaccharidosis IIIB Mouse Brain.Biomolecules · 2020Article
- New label-free methods for protein relative quantification applied to the investigation of an animal model of Huntington Disease.PloS one · 2020Article
- Label-Free Quantitative Proteomics in a Methylmalonyl-CoA Mutase-Silenced Neuroblastoma Cell Line.International journal of molecular sciences · 2018Article
- Targeted metabolomic profiling in rat tissues reveals sex differences.Scientific reports · 2018Article
- TAT-MTS-MCM fusion proteins reduce MMA levels and improve mitochondrial activity and liver function in MCM-deficient cells.Journal of cellular and molecular medicine · 2018Article
- Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria.Oxidative medicine and cellular longevity · 2018Review
- "Classical organic acidurias": diagnosis and pathogenesis.Clinical and experimental medicine · 2017Review
- Integration of Proteomics and Metabolomics in Exploring Genetic and Rare Metabolic Diseases.Kidney diseases (Basel, Switzerland) · 2017Review
- Defects in muscle branched-chain amino acid oxidation contribute to impaired lipid metabolism.Molecular metabolism · 2016Article
- Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias.BioMed research international · 2016Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 8 institutions in 5 countries.
Funding
Abstract
Methylmalonic acidemia (MMA) is a heterogeneous and severe autosomal recessive inborn error of metabolism most commonly caused by the deficient activity of the vitamin B12 dependent enzyme, methylmalonyl-CoA mutase (MUT). The main treatment for MMA patients is the dietary restriction of propiogenic amino acids and carnitine supplementation. Despite treatment, the prognosis for vitamin B12 non-responsive patients remains poor and is associated with neonatal lethality, persistent morbidity and decreased life expectancy. While multi-organ pathology is a feature of MMA, the liver is severely impacted by mitochondrial dysfunction which likely underlies the metabolic instability experienced by the patients. Liver and/or combined liver/kidney transplantation is therefore sometimes performed in severely affected patients. Using liver specimens from donors and MMA patients undergoing elective liver transplantation collected under a dedicated natural history protocol (clinicaltrials.gov: NCT00078078), we employed proteomics to characterize the liver pathology and impaired hepatic metabolism observed in the patients. Pathway analysis revealed perturbations of enzymes involved in energy metabolism, gluconeogenesis and Krebs cycle anaplerosis. Our findings identify new pathophysiologic and therapeutic targets that could be valuable for designing alternative therapies to alleviate clinical manifestations seen in this disorder.
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What OpenQuestion holds
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 OpenQuestion graph.