Associated Papers
A novel polyribonucleotide nucleotidyltransferase 1 (PNPT1) gene variant potentially associated with combined oxidative phosphorylation deficiency 13: case report and literature review.
Li YY et al.
Translational Pediatrics, 2025
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
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
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
Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome.
Matilainen S et al.
Human Molecular Genetics, 2017
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