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

Polymerase gamma disease through the ages.

Developmental disabilities research reviews - 1 Jan 2010

Saneto Russell P, Naviaux Robert K

Abstract excerpt

The most common group of mitochondrial disease is due to mutations within the mitochondrial DNA polymerase, polymerase gamma 1 (POLG). This gene product is responsible for replication and repair of the small mitochondrial DNA genome. The structure-function relationship of this gene product produces a wide variety of diseases that at times, seems to defy the common perceptions of genetics. The unique features of...

Read the complete abstract on PubMed

Topics

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

Share to Developmental Disabilities
Share to DNA-Directed DNA Polymerase
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Polymerase gamma

Share to Infant, Newborn

Share to Mitochondrial Diseases

Share to Nuclear Proteins

Share to Syndrome

Source

Identifiers

PMID: 20818731
DOI: 10.1002/ddrr.105

Genes

POLG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Polymerase gamma disease through the ages.PMID 20818731Read ↗

Polymerase gamma-related mitochondrial disorder.Semantic proximity Read ↗

Mitochondrial DNA polymerase-gamma and human disease.Semantic proximity Read ↗

The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.Semantic proximity Read ↗

Clinical and molecular features of POLG-related mitochondrial disease.Semantic proximity Read ↗

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.Semantic proximity Read ↗

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.Semantic proximity Read ↗

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?Semantic proximity Read ↗

Clinical and molecular spectrum associated with Polymerase-γ related disorders.Semantic proximity Read ↗

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.Semantic proximity Read ↗

Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India.Semantic proximity Read ↗

DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.Semantic proximity Read ↗

Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.Semantic proximity Read ↗

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