Associated Papers
Letter in response to case "Variants in the SARS2 gene cause HUPRA syndrome with atypical features: two case reports and review of the literature.
Belostotsky R
Oxford Medical Case Reports, 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
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 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
Carrier screening for Krabbe disease in an isolated inbred community.
Ezer S et al.
American Journal of Medical Genetics. Part A, 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
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome.
Linnankivi T et al.
Human Mutation, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Evolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases.
Datt M et al.
Bmc Genomics, 2014
Pathogenic implications of human mitochondrial aminoacyl-tRNA synthetases.
Schwenzer H et al.
Topics in Current Chemistry, 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
The SIRT2 polymorphism rs10410544 and risk of Alzheimer's disease in two Caucasian case-control cohorts.
Polito L et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2013
Human mitochondrial tRNA quality control in health and disease: a channelling mechanism?
Belostotsky R et al.
Rna Biology, 2012
Human diseases with impaired mitochondrial protein synthesis.
Rötig A
Biochimica Et Biophysica Acta, 2011
Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome.
Belostotsky R et al.
American Journal of Human Genetics, 2011