Associated Papers
Structural insights into human PNPase in health and disease.
Li YC et al.
Nucleic Acids Research, 2025
Pathological PNPase variants with altered RNA binding and degradation activity affect the phenotype of bacterial and human cell models.
Pizzoccheri R et al.
Nar Molecular Medicine, 2025
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S3
SUV3 Helicase and Mitochondrial Homeostasis.
Chen PL
International Journal of Molecular Sciences, 2023
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.
Rius R et al.
Journal of Clinical Medicine, 2019
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Demos M et al.
Frontiers in Neurology, 2019
Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disorders.
Eaton A et al.
American Journal of Medical Genetics. Part A, 2018
Crystal structure of dimeric human PNPase reveals why disease-linked mutants suffer from low RNA import and degradation activities.
Golzarroshan B et al.
Nucleic Acids Research, 2018
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