Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase gamma mutations associated with disease in human.

Biochimica et biophysica acta - 1 Dec 2007

Baruffini Enrico, Ferrero Iliana, Foury Françoise

Abstract excerpt

The yeast mitochondrial DNA (mtDNA) replicase Mip1 has been used as a model to generate five mutations equivalent to POLG mutations associated with a broad spectrum of diseases in human. All mip1 mutations, alone or in combination in cis or in trans, increase mtDNA instability as measured by petite frequency and Ery(R) mutant accumulation. This phenotype is associated with decreased Mip1 levels in mitochondrial...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Disease
Share to DNA-Directed DNA Polymerase

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Polymerase gamma

Share to DNA Polymerase I

Share to Erythromycin

Share to Gene Dosage

Share to Mutant Proteins

Share to Oxidation-Reduction

Source

Identifiers

PMID: 17980715
DOI: 10.1016/j.bbadis.2007.10.002

Genes

POLG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase gamma mutations associated with disease in human.PMID 17980715Read ↗

The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG-related disorders.Semantic proximity Read ↗

mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae.Semantic proximity Read ↗

Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease.Semantic proximity Read ↗

A non-radioactive DNA synthesis assay demonstrates that elements of the Sigma 1278b Mip1 mitochondrial DNA polymerase domain and C-terminal extension facilitate robust enzyme activity.Semantic proximity Read ↗

Modeling of pathogenic variants of mitochondrial DNA polymerase: insight into the replication defects and implication for human disease.Semantic proximity Read ↗

Antimutator alleles of yeast DNA polymerase gamma modulate the balance between DNA synthesis and excision.Semantic proximity Read ↗

Overexpression of DNA polymerase zeta reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast.Semantic proximity Read ↗

A single nucleotide polymorphism in the DNA polymerase gamma gene of Saccharomyces cerevisiae laboratory strains is responsible for increased mitochondrial DNA mutability.Semantic proximity Read ↗

The Y951N patient mutation inactivates the intramolecular switch in human mitochondrial DNA POLγSemantic proximity Read ↗

Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G.Semantic proximity Read ↗

Ancestral allele of DNA polymerase gamma modifies antiviral tolerance.Semantic proximity Read ↗

Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.