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
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Barbier M et al.
Annals of Neurology, 2022
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
Gauquelin L et al.
Movement Disorders Clinical Practice, 2020
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
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