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 energy generation disorders: genes, mechanisms, and clues to pathology.

The Journal of biological chemistry - 5 Apr 2019

Frazier Ann E, Thorburn David R, Compton Alison G

Abstract excerpt

Inherited disorders of oxidative phosphorylation cause the clinically and genetically heterogeneous diseases known as mitochondrial energy generation disorders, or mitochondrial diseases. Over the last three decades, mutations causing these disorders have been identified in almost 290 genes, but many patients still remain without a molecular diagnosis. Moreover, while our knowledge of the genetic causes is...

Read the complete abstract on PubMed

Topics

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

Share to Energy Metabolism
Share to Genetic Diseases, Inborn
Share to Mitochondrial Diseases

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

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 29233888
DOI: 10.1074/jbc.R117.809194
PMCID: PMC6462508

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 energy generation disorders: genes, mechanisms, and clues to pathology.PMID 29233888Read ↗

Mitochondrial diseases: from molecular mechanisms to therapeutic advances.Semantic proximity Read ↗

The genetics and pathology of oxidative phosphorylation.Semantic proximity Read ↗

Multisystem manifestations of mitochondrial disorders.Semantic proximity Read ↗

Mitochondrial functions and rare diseases.Semantic proximity Read ↗

Mitochondrial medicine in the omics era.Semantic proximity Read ↗

Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease.Semantic proximity Read ↗

Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders.Semantic proximity Read ↗

Mitochondrial dysfunction and molecular pathways of diseaseSemantic proximity Read ↗

Mitochondrial disorders.Semantic proximity Read ↗

The genetics and pathology of mitochondrial disease.Semantic proximity Read ↗

Mitochondrial disorders: challenges in diagnosis & treatment.Semantic proximity Read ↗

Mitochondria and mitochondrial disorders: an overview update.Semantic proximity Read ↗

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