Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.D274A
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POLG

NM_002693.3:p.D274A

Associated Papers

Small molecules restore mutant mitochondrial DNA polymerase activity.

Valenzuela S et al.

Nature, 2025

40205042 (PubMed )
Supplement: 41586_2025_8856_MOESM7_ESM.xlsx › ED_Fig._1d

Engineering mtDNA deletions by reconstituting end joining in human mitochondria.

Fu Y et al.

Cell, 2025

The POLγ Y951N patient mutation disrupts the switch between DNA synthesis and proofreading, triggering mitochondrial DNA instability.

Forslund JME et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Engineering mtDNA Deletions by Reconstituting End-Joining in Human Mitochondria.

Fu Y et al.

Biorxiv : the Preprint Server for Biology, 2024

The Fate of Oxidative Strand Breaks in Mitochondrial DNA.

Trombly G et al.

Antioxidants (basel, Switzerland), 2023

The 5'-phosphate enhances the DNA-binding and exonuclease activities of human mitochondrial genome maintenance exonuclease 1 (MGME1).

Urrutia KM et al.

The Journal of Biological Chemistry, 2022

DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion.

Silva-Pinheiro P et al.

Nucleic Acids Research, 2021

Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO.

Hedberg-Oldfors C et al.

Neurology. Genetics, 2020

Mechanisms of Mitochondrial DNA Deletion Formation.

Nissanka N et al.

Trends in Genetics : Tig, 2019

Mitochondrial DNA degradation: A quality control measure for mitochondrial genome maintenance and stress response.

Zhao L

The Enzymes, 2019

Linear mitochondrial DNA is rapidly degraded by components of the replication machinery.

Peeva V et al.

Nature Communications, 2018

The presence of rNTPs decreases the speed of mitochondrial DNA replication.

Forslund JME et al.

Plos Genetics, 2018

Targeted enrichment and high-resolution digital profiling of mitochondrial DNA deletions in human brain.

Taylor SD et al.

Aging Cell, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."