Associated Papers
[Clinical and genetic analysis of a patient with HUPRA syndrome due to missense variants of SARS2 gene and literature review].
Huang J et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2024
Variants in the SARS2 gene cause HUPRA syndrome with atypical features: two case reports and review of the literature.
Lahham EE et al.
Oxford Medical Case Reports, 2023
Selective degradation of tRNASer(AGY) is the primary driver for mitochondrial seryl-tRNA synthetase-related disease.
Yu T et al.
Nucleic Acids Research, 2022
Novel variants of seryl-tRNA synthetase resulting in HUPRA syndrome featured in pulmonary hypertension.
Yang F et al.
Frontiers in Cardiovascular Medicine, 2022
Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemia.
Colin E et al.
Haematologica, 2021
Novel SARS2 variants identified in a Chinese girl with HUPRA syndrome.
Zhou Y et al.
Molecular Genetics & Genomic Medicine, 2021
Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency.
Schijvens AM et al.
Kidney International Reports, 2020
Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome.
Linnankivi T et al.
Human Mutation, 2016
Evolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases.
Datt M et al.
Bmc Genomics, 2014
The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.
Diodato D et al.
International Journal of Cell Biology, 2014
A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome.
Rivera H et al.
Bmc Nephrology, 2013
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