ArticleBMC nephrology2013
A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome.
Article in BMC nephrology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 34 citations in OpenAlex.
- Multiple mechanisms lead to loss-of-function effects of pathogenic SARS2 variants.Disease models & mechanisms · 2026Article
- Comprehensive review of mitochondrial nephropathy-a renal phenotype in mitochondrial disease: causative genes, clinical and pathological features, diagnosis, prognosis, and treatment.Clinical and experimental nephrology · 2025Review
- Protein-Protein Interactions of Seryl-tRNA Synthetases with Emphasis on Human Counterparts and Their Connection to Health and Disease.Life (Basel, Switzerland) · 2024Review
- Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis.Frontiers in cell and developmental biology · 2024Review
- Bendless is essential for PINK1-Park mediated Mitofusin degradation under mitochondrial stress caused by loss of LRPPRC.PLoS genetics · 2023Article
- Selective degradation of tRNASer(AGY) is the primary driver for mitochondrial seryl-tRNA synthetase-related disease.Nucleic acids research · 2022Article
- A case of chronic kidney disease with pulmonary hypertension, hyperuricemia, immunodeficiency and other extrarenal findings: Answers.Pediatric nephrology (Berlin, Germany) · 2022Article
- Clinical and genetic approach to renal hypomagnesemia.Biomedical journal · 2022Review
- Novel variants of seryl-tRNA synthetase resulting in HUPRA syndrome featured in pulmonary hypertension.Frontiers in cardiovascular medicine · 2022Article
- Hereditary kidney diseases associated with hypomagnesemia.Kidney research and clinical practice · 2021Article
- Biallelic mutations in theHaematologica · 2021Article
- Novel SARS2 variants identified in a Chinese girl with HUPRA syndrome.Molecular genetics & genomic medicine · 2021Article
- Mitochondrial Protein Translation: Emerging Roles and Clinical Significance in Disease.Frontiers in cell and developmental biology · 2021Review
- Mitochondrial Disease and the Kidney With a Special Focus on CoQKidney international reports · 2020Review
- Deiminated proteins in extracellular vesicles and serum of llama (Lama glama)-Novel insights into camelid immunity.Molecular immunology · 2020Article
- BOLA (BolA Family Member 3) Deficiency Controls Endothelial Metabolism and Glycine Homeostasis in Pulmonary Hypertension.Circulation · 2019Article
- A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways.Cell reports · 2018Article
- Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature.World journal of gastroenterology · 2018Review
- Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease.Human molecular genetics · 2017Review
- Renal manifestations of primary mitochondrial disorders.Biomedical reports · 2017Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHUPRA 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. Both patients were clinically diagnosed with the HUPRA syndrome. Analysis of the pedigree identified a new homozygous mutation c.1205G > A (p.R402H) in SARS2 gene. This mutation is very rare in the population and it is located at the C-terminal globular domain of the homodimeric enzyme very close to p.D390G.
conclusionSeveral data support that p.R402H mutation in SARS2 is a new cause of HUPRA syndrome.
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