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 new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome.

BMC nephrology - 13 Sept 2013

Rivera Henry, Martín-Hernández Elena, Delmiro Aitor, García-Silva María Teresa, Quijada-Fraile Pilar, Muley Rafael, Arenas Joaquín, Martín Miguel A, Martínez-Azorín Francisco

Abstract excerpt

BACKGROUND: HUPRA syndrome is a rare mitochondrial disease characterized by hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis. This syndrome was previously described in three patients with a homozygous mutation c.1169A > G (p.D390G) in SARS2, encoding the mitochondrial seryl-tRNA synthetase. CASE PRESENTATION: Here we report the clinical and genetic findings in a girl and her brother....

Read the complete abstract on PubMed

Topics

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

Share to Genetic Markers
Share to Hypertension, Pulmonary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperuricemia

Share to Infant

Share to Mitochondrial Proteins

Share to Polymorphism, Single Nucleotide

Share to Renal Insufficiency

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 24034276
DOI: 10.1186/1471-2369-14-195
PMCID: PMC3847196

Genes

SARS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome.PMID 24034276Read ↗

A Variant Mutation in the gene encoding Mitochondrial Seryl-tRNA Synthetase Cause HUPRA Syndrome with Atypical Presentation-A Case ReportSemantic proximity Read ↗

[Clinical and genetic analysis of a patient with HUPRA syndrome due to missense variants of SARS2 gene and literature review].Semantic proximity Read ↗

Novel SARS2 variants identified in a Chinese girl with HUPRA syndrome.Semantic proximity Read ↗

Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome.Semantic proximity Read ↗

Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome.Semantic proximity Read ↗

Multiple mechanisms lead to loss-of-function effects of pathogenic SARS2 variants.Semantic proximity Read ↗

Novel coding-region polymorphisms in mitochondrial seryl-tRNA synthetase (SARSM) and mitoribosomal protein S12 (RPMS12) genes in DFNA4 autosomal dominant deafness families.Semantic proximity Read ↗

Mechanisms and Future Research Perspectives on Mitochondrial Diseases Associated with Isoleucyl-tRNA Synthetase Gene Mutations.Semantic proximity Read ↗

Clinical and genetic analysis of essential hypertension with mitochondrial tRNAMet 4435A>G and YARS2 mutation.Semantic proximity Read ↗

Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6.Semantic proximity Read ↗

[Mutations in aminoacyl-tRNA synthetase genes: an analysis of 10 cases].Semantic proximity Read ↗

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.Semantic proximity Read ↗

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