ArticleAmerican journal of human genetics2013
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 80 papers.
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Who cites it
80 citing papers in PubMed, 131 citations in OpenAlex.
- Multi-omics analysis positions DNA2 at the interface of genome integrity programs and tumor behavior in pan-cancer.Functional & integrative genomics · 2026Article
- Regulatory networks of iron sulfur cluster biology in cancer mechanisms and therapeutic perspectives.iScience · 2026Review
- Rare genetic diseases associated with G-quadruplex-induced replication stress.Communications biology · 2026Review
- DNA2 acts as a brake on β cell insulin hypersecretion and diet-induced metabolic dysfunction.Frontiers in cell and developmental biology · 2026Article
- Mitochondrial DNA Replication and Disease: A Historical Perspective on Molecular Insights and Therapeutic Advances.International journal of molecular sciences · 2025Review
- Kearns-Sayre syndrome presenting with fanconi syndrome: a case report.Translational pediatrics · 2025Article
- Case Report: A homozygous selenocysteine insertion sequence-binding protein 2 (Frontiers in pediatrics · 2025Article
- A DNA2 mutation in the ATP-binding motif identified in a diagnostically unresolved individual.Frontiers in molecular biosciences · 2025Article
- Article
- Mechanisms and pathologies of human mitochondrial DNA replication and deletion formation.The Biochemical journal · 2024Review
- A novel mutation of DNA2 regulates neuronal cell membrane potential and epileptogenesis.Cell death discovery · 2024Article
- Mitochondrial Chronic Progressive External Ophthalmoplegia.Brain sciences · 2024Review
- Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using YeastInternational journal of molecular sciences · 2023Review
- Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.EMBO molecular medicine · 2023Article
- Mitochondria and G-quadruplex evolution: an intertwined relationship.Trends in genetics : TIG · 2023Review
- Rothmund-Thomson syndrome, a disorder far from solved.Frontiers in aging · 2023Review
- Progressive external ophthalmoplegia.Handbook of clinical neurology · 2023Review
- DNA2 mutation causing multisystemic disorder with impaired mitochondrial DNA maintenance.Journal of human genetics · 2022Article
- Mitochondrial DNA maintenance in Drosophila melanogaster.Bioscience reports · 2022Review
- Comparative Genomics Provides Insights into Adaptive Evolution in Tactile-Foraging Birds.Genes · 2022Article
20 more citing papers are in PubMed but not listed here.
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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
22 authors at 10 institutions in 3 countries.
Funding
Abstract
Syndromes associated with multiple mtDNA deletions are due to different molecular defects that can result in a wide spectrum of predominantly adult-onset clinical presentations, ranging from progressive external ophthalmoplegia (PEO) to multisystemic disorders of variable severity. The autosomal-dominant form of PEO is genetically heterogeneous. Recently, causative mutations have been reported in several nuclear genes that encode proteins of the mtDNA replisome machinery (POLG, POLG2, and C10orf2) or that are involved in pathways for the synthesis of deoxyribonuclotides (ANT1 and RRM2B). Despite these findings, putative mutations remain unknown in half of the subjects with PEO. We report the identification, by exome sequencing, of mutations in DNA2 in adult-onset individuals with a form of mitochondrial myopathy featuring instability of muscle mtDNA. DNA2 encodes a helicase/nuclease family member that is most likely involved in mtDNA replication, as well as in the long-patch base-excision repair (LP-BER) pathway. In vitro biochemical analysis of purified mutant proteins revealed a severe impairment of nuclease, helicase, and ATPase activities. These results implicate human DNA2 and the LP-BER pathway in the pathogenesis of adult-onset disorders of mtDNA maintenance.
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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.