ArticleInternational journal of molecular sciences2024
Resolving Phenotypic Variability in Mitochondrial Diseases: Preliminary Findings of a Proteomic Approach.
Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- The pseudouridine synthase PUSL1 modifies U39 of mitochondrial tRNAs and is linked to human neurological phenotypes.Nucleic acids research · 2026Article
- A comprehensive insight into NETosis-extracellular vesicle crosstalk in autoimmune diseases.Naunyn-Schmiedeberg's archives of pharmacology · 2026Review
- Urinary Multi-Omics Profiling Reveals Systemic Molecular Alterations in Progressive External Ophthalmoplegia.International journal of molecular sciences · 2025Article
- RAPGEF6 is a key biomarker with temporal characteristics in sepsis and exacerbates inflammation and oxidative stress by NF-κB-mediated necroptosis.Functional & integrative genomics · 2025Article
- 4D quantitative proteomics of ovarian granulosa cells reveals the involvement of oxidative phosphorylation in non-elderly women with diminished ovarian reserve.Journal of ovarian research · 2025Article
- Protein Nitration in Patients with Mitochondrial Diseases.Antioxidants (Basel, Switzerland) · 2025Article
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Authors and funding
7 authors.
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Abstract
The introduction of new sequencing approaches into clinical practice has radically changed the diagnostic approach to mitochondrial diseases, significantly improving the molecular definition rate in this group of neurogenetic disorders. At the same time, there have been no equal successes in the area of in-depth understanding of disease mechanisms and few innovative therapeutic approaches have been proposed recently. In this regard, the identification of the molecular basis of phenotypic variability in primary mitochondrial disorders represents a key aspect for deciphering disease mechanisms with important therapeutic implications. In this study, we present data from proteomic investigations in two subjects affected by mitochondrial disease characterized by a different clinical severity and associated with the same variant in the
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