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

Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.

European journal of human genetics : EJHG - 1 Mar 2010

Smits Paulien, Mattijssen Sandy, Morava Eva, van den Brand Mariël, van den Brandt Frans, Wijburg Frits, Pruijn Ger, Smeitink Jan, Nijtmans Leo, Rodenburg Richard, van den Heuvel Lambert

Abstract excerpt

Combined oxidative phosphorylation (OXPHOS) system deficiencies are a group of mitochondrial disorders that are associated with a range of clinical phenotypes and genetic defects. They occur in approximately 30% of all OXPHOS disorders and around 4% are combined complex I, III and IV deficiencies. In this study we present two mutations in the mitochondrial tRNA(Trp) (MT-TW) and tRNA(Arg) (MT-TR) genes, m.5556G>A...

Read the complete abstract on PubMed

Topics

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

Share to Blotting, Northern
Share to Electron Transport Complex I

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electrophoresis, Polyacrylamide Gel

Share to Fatal Outcome

Share to Mitochondrial Diseases

Share to Nucleic Acid Conformation

Share to Protein Biosynthesis

Share to RNA, Transfer, Amino Acyl

Source

Open in PubMed Open full text

Identifiers

PMID: 19809478
DOI: 10.1038/ejhg.2009.169
PMCID: PMC2987211

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

Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.PMID 19809478Read ↗

A mitochondrial myopathy-associated tRNASer(UCN) 7453G>A mutation alters tRNA metabolism and mitochondrial function.Semantic proximity Read ↗

The molecular pathology of pathogenic mitochondrial tRNA variants.Semantic proximity Read ↗

Mitochondrial tRNA mutations: clinical and functional perturbations.Semantic proximity Read ↗

Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA(Trp).Semantic proximity Read ↗

Combination of mitochondrial tRNA and OXPHOS mutation reduces lifespan and physical condition in aged miceSemantic proximity Read ↗

Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases.Semantic proximity Read ↗

Molecular investigations on tRNAs involved in human mitochondrial disorders.Semantic proximity Read ↗

Disorders of mitochondrial protein synthesis.Semantic proximity Read ↗

Impact of disease-related mitochondrial mutations on tRNA structure and function.Semantic proximity Read ↗

A novel acceptor stem variant in mitochondrial tRNATyr impairs mitochondrial translation and is associated with a severe phenotype.Semantic proximity Read ↗

A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential.Semantic proximity Read ↗

Pathogenic mechanism of a human mitochondrial tRNAPhe mutation associated with myoclonic epilepsy with ragged red fibers syndrome.Semantic proximity Read ↗

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