ArticleEBioMedicine2020
Identification of unique and shared mitochondrial DNA mutations in neurodegeneration and cancer by single-cell mitochondrial DNA structural variation sequencing (MitoSV-seq).
Article in EBioMedicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 25 citations in OpenAlex.
- Mitochondrial Genomic Alterations in Pediatric Acute Lymphoblastic Leukemia: Implications for Methotrexate-Induced Neurotoxicity and Ethnic Disparities.Cancer medicine · 2026Article
- Mitochondrial cardiovascular diseases: molecular mechanisms, multi-omics exploration and therapeutic strategies.Journal of advanced research · 2026Review
- MitoDelta: identifying mitochondrial DNA deletions at cell-type resolution from single-cell RNA sequencing data.BMC genomics · 2025Article
- Single-Cell Sequencing: Genomic and Transcriptomic Approaches in Cancer Cell Biology.International journal of molecular sciences · 2025Review
- Prognostic impact of donor mitochondrial genomic variants in myelodysplastic neoplasms after stem-cell transplantation.Journal of hematology & oncology · 2024Article
- Nanobiopsy investigation of the subcellular mtDNA heteroplasmy in human tissues.Scientific reports · 2024Article
- Targeting Neoantigens in Cancer: Possibilities and Opportunities in Breast Cancer.Antibodies (Basel, Switzerland) · 2024Review
- Our current understanding of the biological impact of endometrial cancer mtDNA genome mutations and their potential use as a biomarker.Frontiers in oncology · 2024Review
- Mitochondrial DNA damage triggers spread of Parkinson's disease-like pathology.Molecular psychiatry · 2023Article
- Mitochondrial heterogeneity in diseases.Signal transduction and targeted therapy · 2023Review
- Neoantigens: promising targets for cancer therapy.Signal transduction and targeted therapy · 2023Review
- High-frequency and functional mitochondrial DNA mutations at the single-cell level.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Pathological and Therapeutic Advances in Parkinson's Disease: Mitochondria in the Interplay.Journal of Alzheimer's disease : JAD · 2023Review
- Identification of Mitochondrial DNA Variants Associated With Risk of Neuroblastoma.Journal of the National Cancer Institute · 2022Article
- mtDNA Heteroplasmy: Origin, Detection, Significance, and Evolutionary Consequences.Life (Basel, Switzerland) · 2021Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPoint mutations and structural variations (SVs) in mitochondrial DNA (mtDNA) contribute to many neurodegenerative diseases. Technical limitations and heteroplasmy, however, have impeded their identification, preventing these changes from being examined in neurons in healthy and disease states.
methodsWe have developed a high-resolution technique-Mitochondrial DNA Structural Variation Sequencing (MitoSV-seq)-that identifies all types of mtDNA SVs and single-nucleotide variations (SNVs) in single neurons and novel variations that have been undetectable with conventional techniques.
findingsUsing MitoSV-seq, we discovered SVs/SNVs in dopaminergic neurons in the Ifnar1
interpretationMitoSV-seq identifies disease-relevant mtDNA mutations in single cells with high resolution, rendering it a potential drug screening platform in neurodegenerative diseases and cancers.
fundingThe Lundbeck Foundation, Danish Council for Independent Research-Medicine, and European Union Horizon 2020 Research and Innovation Programme.
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