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
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.
Rius R et al.
Journal of Clinical Medicine, 2019
31752325 (PubMed )
Supplement: jcm-08-02020-s001.zip › supplementary_files › S1_Clinical_Phenotype_of_patients_with_PNPT1_variants_11.11.19.xlsx › Table_S1_
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
PNPase knockout results in mtDNA loss and an altered metabolic gene expression program.
Shimada E et al.
Plos One, 2018
Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.
Alodaib A et al.
European Journal of Human Genetics : Ejhg, 2017
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