Associated Papers
Feedforward miR-181d degradation modulates population variance of methyl-guanine methyl transferase and temozolomide resistance.
Singh G et al.
Cell Reports, 2025
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
Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders.
Loiselet K et al.
Developmental Medicine and Child Neurology, 2021
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
Mitochondrial DNA transcription and translation: clinical syndromes.
Boczonadi V et al.
Essays in Biochemistry, 2018
PNPase knockout results in mtDNA loss and an altered metabolic gene expression program.
Shimada E et al.
Plos One, 2018
Mitochondrial transcript maturation and its disorders.
Van Haute L et al.
Journal of Inherited Metabolic Disease, 2015
Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.
Vedrenne V et al.
American Journal of Human Genetics, 2012
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