ArticleJournal of inherited metabolic disease2015
The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans.
Article in Journal of inherited metabolic disease, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review.Human genetics · 2022Pooled it
- Improved biochemical and neurodevelopmental profiles with high-dose hydroxocobalamin therapy in cobalamin C defect.Journal of inherited metabolic disease · 2025Article
- Multiomic analysis in fibroblasts of patients with inborn errors of cobalamin metabolism reveals concordance with clinical and metabolic variability.EBioMedicine · 2024Article
- Serum differential proteomic profiling of patients with isolated methylmalonic acidemia by iTRAQ.Frontiers in genetics · 2022Article
- Cold Adaptation in Antarctic Notothenioids: Comparative Transcriptomics Reveals Novel Insights in the Peculiar Role of Gills and Highlights Signatures of Cobalamin Deficiency.International journal of molecular sciences · 2021Article
- The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.Human molecular genetics · 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
- Systemic vitamin intake impacting tissue proteomes.Nutrition & metabolism · 2020Review
- Crosstalk between 14-3-3θ and AF4 enhances MLL-AF4 activity and promotes leukemia cell proliferation.Cellular oncology (Dordrecht, Netherlands) · 2019Article
- Article
- Elucidating Unique Axonal Dysfunction Between Nitrous Oxide Abuse and Vitamin B12 Deficiency.Frontiers in neurology · 2019Article
- Label-Free Quantitative Proteomics in a Methylmalonyl-CoA Mutase-Silenced Neuroblastoma Cell Line.International journal of molecular sciences · 2018Article
- Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria.Oxidative medicine and cellular longevity · 2018Review
- Proteotoxicity in cardiac amyloidosis: amyloidogenic light chains affect the levels of intracellular proteins in human heart cells.Scientific reports · 2017Article
- "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
- Cysteamine revisited: repair of arginine to cysteine mutations.Journal of inherited metabolic disease · 2017Review
- The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient livers.Molecular bioSystems · 2016Article
- Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias.BioMed research international · 2016Review
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Methylmalonic acidemia with homocystinuria, cobalamin deficiency type C (cblC) (MMACHC) is the most common inborn error of cobalamin metabolism. Despite a multidrug treatment, the long-term follow-up of early-onset patients is often unsatisfactory, with progression of neurological and ocular impairment. Here, the in-vivo proteome of control and MMACHC lymphocytes (obtained from patients under standard treatment with OHCbl, betaine, folate and L-carnitine) was quantitatively examined by two dimensional differential in-gel electrophoresis (2D-DIGE) and mass spectrometry. Twenty three proteins were found up-regulated and 38 proteins were down-regulated. Consistent with in vivo studies showing disturbance of glutathione metabolism, a deregulation in proteins involved in cellular detoxification, especially in glutathione metabolism was found. In addition, relevant changes were observed in the expression levels of proteins involved in intracellular trafficking and protein folding, energy metabolism, cytoskeleton organization and assembly. This study demonstrates relevant changes in the proteome profile of circulating lymphocytes isolated from treated cblC patients. Some results confirm previous observations in vivo on fibroblast, thus concluding that some dysregulation is ubiquitous. On the other hand, new findings could be tissue-specific. These observations expand our current understanding of the cblC disease and may ignite new research and therapeutic strategies to treat this disorder.
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