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

The effects of nuclear DNA mutations on mitochondrial function.

Journal of the American Association of Nurse Practitioners - 1 Jan 2023

Heuer Beth

Abstract excerpt

ABSTRACT: The multiple functions of mitochondria, including adenosine triphosphate synthesis, are controlled by the coordination of both the mitochondrial DNA (mtDNA) and the nuclear DNA (nDNA) genomes. Mitochondrial disorders manifest because of impairment of energy metabolism. This article focuses on mutations in two nuclear genes and their effect on mitochondrial function. Mutations in the polymerase gamma, or...

Read the complete abstract on PubMed

Topics

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

Share to Diffuse Cerebral Sclerosis of Schilder
Share to DNA, Mitochondrial
Share to Mitochondria

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondrial Diseases

Share to Mutation

Share to Optic Atrophy, Autosomal Dominant

Source

Identifiers

PMID: 36602472
DOI: 10.1097/JXX.0000000000000827

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

The effects of nuclear DNA mutations on mitochondrial function.PMID 36602472Read ↗

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

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

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

Defects in mitochondrial DNA replication and human disease.Semantic proximity Read ↗

Human mitochondrial DNA replication machinery and disease.Semantic proximity Read ↗

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and childrenSemantic proximity Read ↗

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.Semantic proximity Read ↗

Polymerase gamma disease through the ages.Semantic proximity Read ↗

The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.Semantic proximity Read ↗

Polymerase gamma-related mitochondrial disorder.Semantic proximity Read ↗

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

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