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 disorders caused by mutations in respiratory chain assembly factors.

Seminars in fetal & neonatal medicine - 1 Aug 2011

Diaz Francisca, Kotarsky Heike, Fellman Vineta, Moraes Carlos T

Abstract excerpt

Mitochondrial diseases involve the dysfunction of the oxidative phosphorylation (OXPHOS) system. This group of diseases presents with heterogeneous clinical symptoms affecting mainly organs with high energy demands. Defects in the multimeric complexes comprising the OXPHOS system have a dual genetic origin, mitochondrial or nuclear DNA. Although many nuclear DNA mutations involve genes coding for subunits of the...

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 Electron Transport
Share to Electron Transport Chain Complex Proteins

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

Share to Infant, Newborn

Share to Mitochondrial Diseases

Share to Molecular Chaperones

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 21680271
DOI: 10.1016/j.siny.2011.05.004
PMCID: PMC3152982

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 disorders caused by mutations in respiratory chain assembly factors.PMID 21680271Read ↗

Human diseases associated with defects in assembly of OXPHOS complexes.Semantic proximity Read ↗

Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.Semantic proximity Read ↗

Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes.Semantic proximity Read ↗

Blackout in the powerhouse: clinical phenotypes associated with defects in the assembly of OXPHOS complexes and the mitoribosome.Semantic proximity Read ↗

Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects.Semantic proximity Read ↗

An update on complex I assembly: the assembly of players.Semantic proximity Read ↗

Mitochondrial disorders due to nuclear OXPHOS gene defects.Semantic proximity Read ↗

The molecular basis of human complex I deficiency.Semantic proximity Read ↗

Pathogenic mutations of nuclear genes associated with mitochondrial disorders.Semantic proximity Read ↗

Disorders related to mitochondrial membranes: pathology of the respiratory chain and neurodegeneration.Semantic proximity Read ↗

Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency.Semantic proximity Read ↗

Complex I deficiency: clinical features, biochemistry and molecular genetics.Semantic proximity Read ↗

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