Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.D1135A
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POLG

NM_002693.3:p.D1135A

Associated Papers

De novo serine biosynthesis is protective in mitochondrial disease.

Jackson CB et al.

Cell Reports, 2025

Activating AMPK improves pathological phenotypes due to mtDNA depletion.

Carvalho G et al.

The Febs Journal, 2025

Reversing wrinkled skin and hair loss in mice by restoring mitochondrial function.

Singh B et al.

Cell Death & Disease, 2018

Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties.

Singh B et al.

Plos One, 2015

Mutations in mitochondrial DNA polymerase-gamma promote breast tumorigenesis.

Singh KK et al.

Journal of Human Genetics, 2009

Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes.

Wanrooij S et al.

Nucleic Acids Research, 2007

Inducible expression of a dominant negative DNA polymerase-gamma depletes mitochondrial DNA and produces a rho0 phenotype.

Jazayeri M et al.

The Journal of Biological Chemistry, 2003

In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells.

Spelbrink JN et al.

The Journal of Biological Chemistry, 2000

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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."