Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.

doi:10.1002/humu.23340

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

Community

Back to search

Article

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.

Human mutation - 1 Dec 2017

Wortmann Saskia B, Timal Sharita, Venselaar Hanka, Wintjes Liesbeth T, Kopajtich Robert, Feichtinger René G, Onnekink Carla, Mühlmeister Mareike, Brandt Ulrich, Smeitink Jan A, Veltman Joris A, Sperl Wolfgang, Lefeber Dirk, Pruijn Ger, Stojanovic Vesna, Freisinger Peter, V Spronsen Francjan, Derks Terry Gj, Veenstra-Knol Hermine E, Mayr Johannes A, Rötig Agnes, Tarnopolsky Mark, Prokisch Holger, Rodenburg Richard J

Abstract excerpt

Mitochondrial protein synthesis involves an intricate interplay between mitochondrial DNA encoded RNAs and nuclear DNA encoded proteins, such as ribosomal proteins and aminoacyl-tRNA synthases. Eukaryotic cells contain 17 mitochondria-specific aminoacyl-tRNA synthases. WARS2 encodes mitochondrial tryptophanyl-tRNA synthase (mtTrpRS), a homodimeric class Ic enzyme (mitochondrial tryptophan-tRNA ligase; EC...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acyl-tRNA Synthetases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome

Share to Exome Sequencing

Share to Intellectual Disability

Share to Mitochondrial Diseases

Share to Mitochondrial Encephalomyopathies

Share to Pregnancy

Share to Sequence Alignment

Source

Open in PubMed

Identifiers

PMID: 28905505
DOI: 10.1002/humu.23340

Genes

WARS2

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

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.PMID 28905505Read ↗

Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.Semantic proximity Read ↗

WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.Semantic proximity Read ↗

Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism.Semantic proximity Read ↗

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.Semantic proximity Read ↗

Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL.Semantic proximity Read ↗

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.Semantic proximity Read ↗

Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism.Semantic proximity Read ↗

Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.Semantic proximity Read ↗

Metabolic impact of pathogenic variants in the mitochondrial glutamyl-tRNA synthetase EARS2.Semantic proximity Read ↗

Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.Semantic proximity Read ↗

A novel tRNASer(AGY) 12244G > a variant impairs mitochondrial function and presents with classical MELAS phenotype.Semantic proximity Read ↗

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

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