Associated Papers
From variant interpretation to structural discovery: A new Zinc-binding domain in PARS2.
Hoebeke C et al.
Mitochondrion, 2026
Activation of the integrated stress response contributes to developmental delay and seizures caused by mitochondrial prolyl-tRNA synthetase (PARS2) deficiency.
Xu M et al.
Redox Biology, 2026
Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75.
Hu X et al.
Gene, 2024
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep.
Licchetta L et al.
Molecular Genetics & Genomic Medicine, 2024
PARS2-associated mitochondrial disease: A case report of a patient with prolonged survival and literature review.
A Almuqbil M et al.
Molecular Genetics and Metabolism Reports, 2020
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants
The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy.
Yin X et al.
Journal of Human Genetics, 2018
Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.
Ciara E et al.
Journal of Human Genetics, 2018
PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.
Mizuguchi T et al.
Journal of Human Genetics, 2017
Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome.
Sofou K et al.
Molecular Genetics & Genomic Medicine, 2015
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