ArticleMitochondrion2016
Inactivation of Pif1 helicase causes a mitochondrial myopathy in mice.
Article in Mitochondrion, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 38 citations in OpenAlex.
- Regulation of Pfh1 helicase activity by nucleic acid interactions and mitochondrial SSB.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Two residues in the DNA binding site of Pif1 helicase are essential for nuclear functions but dispensable for mitochondrial respiratory growth.Nucleic acids research · 2024Article
- Structural Studies of Pif1 Helicases from Thermophilic Bacteria.Microorganisms · 2023Article
- Mitochondria and G-quadruplex evolution: an intertwined relationship.Trends in genetics : TIG · 2023Review
- Mitochondrial DNA maintenance in Drosophila melanogaster.Bioscience reports · 2022Review
- OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial myopathy.The Journal of clinical investigation · 2022Article
- Role and Regulation of Pif1 Family Helicases at the Replication Fork.International journal of molecular sciences · 2022Review
- Mammalian Resilience Revealed by a Comparison of Human Diseases and Mouse Models Associated With DNA Helicase Deficiencies.Frontiers in molecular biosciences · 2022Review
- Dynamic regulation of Pif1 acetylation is crucial to the maintenance of genome stability.Current genetics · 2021Review
- Mitochondrial genetic variation is enriched in G-quadruplex regions that stall DNA synthesis in vitro.Human molecular genetics · 2020Article
- Review
- Roles of the mitochondrial replisome in mitochondrial DNA deletion formation.Genetics and molecular biology · 2020Article
- TheGenetics · 2019Article
- G-quadruplex dynamics contribute to regulation of mitochondrial gene expression.Scientific reports · 2019Article
- Replication of G Quadruplex DNA.Genes · 2019Review
- Article
- Higher Order Organization of the mtDNA: Beyond Mitochondrial Transcription Factor A.Frontiers in genetics · 2019Review
- Potential Roles for G-Quadruplexes in Mitochondria.Current medicinal chemistry · 2019Review
- Principal Aspects Regarding the Maintenance of Mammalian Mitochondrial Genome Integrity.International journal of molecular sciences · 2017Review
- The functions of the multi-tasking Pfh1Current genetics · 2017Review
Corrections and comments
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Authors and funding
16 authors at 8 institutions in 3 countries.
Funding
Abstract
Mutations in genes coding for mitochondrial helicases such as TWINKLE and DNA2 are involved in mitochondrial myopathies with mtDNA instability in both human and mouse. We show that inactivation of Pif1, a third member of the mitochondrial helicase family, causes a similar phenotype in mouse. pif1-/- animals develop a mitochondrial myopathy with respiratory chain deficiency. Pif1 inactivation is responsible for a deficiency to repair oxidative stress-induced mtDNA damage in mouse embryonic fibroblasts that is improved by complementation with mitochondrial isoform mPif1(67). These results open new perspectives for the exploration of patients with mtDNA instability disorders.
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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.