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

A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia.

Human mutation - 1 Aug 2012

Sasarman Florin, Nishimura Tamiko, Thiffault Isabelle, Shoubridge Eric A

Abstract excerpt

Mutations in the mitochondrial aminoacyl-tRNA synthetases (ARSs) are associated with a strikingly broad range of clinical phenotypes, the molecular basis for which remains obscure. Here, we report a novel missense mutation (c.137G>A, p.Gly46Asp) in the catalytic domain of YARS2, which codes for the mitochondrial tyrosyl-tRNA synthetase, in a subject with myopathy, lactic acidosis, and sideroblastic anemia...

Read the complete abstract on PubMed

Topics

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

Share to Acidosis, Lactic
Share to Anemia, Sideroblastic
Share to Cells, Cultured

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondrial Proteins

Share to Muscular Diseases

Share to Myoblasts

Share to tRNA Methyltransferases

Share to Tyrosine-tRNA Ligase

Source

Identifiers

PMID: 22504945
DOI: 10.1002/humu.22098

Genes

YARS2
TRMU

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia.PMID 22504945Read ↗

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.Semantic proximity Read ↗

A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.Semantic proximity Read ↗

A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2.Semantic proximity Read ↗

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans.Semantic proximity Read ↗

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.Semantic proximity Read ↗

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

Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene.Semantic proximity Read ↗

Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.Semantic proximity Read ↗

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

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

A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.Semantic proximity Read ↗

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

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