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-related mitochondrial disorder.

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke - 14 Jan 2020

Hikmat Omar, Varhaug Kristin Nielsen, Bindoff Laurence Albert

Abstract excerpt

DNA Polymerase gamma (POLG) is an enzyme that replicates and repairs mitochondrial DNA. Mutations in the gene that codes for the catalytic subunit of the enzyme, the POLG gene, are one of the most common causes of mitochondrial disease. POLG-related disorders can have overlapping phenotypes and affect a number of organ systems, and first onset may occur at any age. The disease group can serve as a paradigm for...

Read the complete abstract on PubMed

Topics

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

Share to DNA, Mitochondrial
Share to DNA Polymerase gamma

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondrial Diseases

Share to Mutation

Share to Phenotype

Source

Identifiers

PMID: 31948198
DOI: 10.4045/tidsskr.19.0368

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-related mitochondrial disorder.PMID 31948198Read ↗

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

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

Polymerase gamma disease through the ages.Semantic proximity Read ↗

Consequences of mutations in human DNA polymerase gamma.Semantic proximity Read ↗

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

Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.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 ↗

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

Functional analysis of mutant mitochondrial DNA polymerase proteins involved in human disease.Semantic proximity Read ↗

Heterozygous p.Y955C mutation in DNA polymerase γ leads to alterations in bioenergetics, complex I subunit expression, and mtDNA replication.Semantic proximity Read ↗

The POLG Variant c.678G>C; p.(Gln226His) Is Associated with Mitochondrial Dysfunction in Patient-Derived FibroblastsSemantic proximity Read ↗

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