Associated Papers
A novel frameshift variant in PURA syndrome: role of NMD pathway in disease mechanism.
Yang H et al.
Gene, 2026
PURA protein mislocalisation in the nucleus: mechanistic basis for transcriptional dysregulation and DNA unwinding deficits in a model of the p.L148Wfs*77 PURA variant.
Wang Y et al.
Journal of Medical Genetics, 2025
PURA syndrome-causing mutations impair PUR-domain integrity and affect P-body association.
Proske M et al.
Elife, 2024
Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease.
Mroczek M et al.
Neuropediatrics, 2021
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa.
Cinquina V et al.
Molecular Genetics & Genomic Medicine, 2021
Neonatal PURA syndrome: a case report and literature review.
Liu Y et al.
Translational Pediatrics, 2021
Expanding the neurodevelopmental phenotype of PURA syndrome.
Lee BH et al.
American Journal of Medical Genetics. Part A, 2018
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