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-related neurodevelopmental disorders: a systematic review on genotype-phenotype correlations.
Taniguchi N et al.
Journal of Medical Genetics, 2025
Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder.
Hildebrand MS et al.
Neurology. Genetics, 2024
PURA syndrome-causing mutations impair PUR-domain integrity and affect P-body association.
Proske M et al.
Elife, 2024
Genetic etiology of progressive pediatric neurological disorders.
Aaltio J et al.
Pediatric Research, 2024
Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India.
Panigrahi I et al.
Case Reports in Genetics, 2024
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Jia X et al.
Science Advances, 2022
35977029 (PubMed )
Supplement: sciadv.abo7112_data_s1_to_s8.zip › sciadv.abo7112_data_s1_to_s8.xlsx › Table_S7._DNM_in_SG_genes
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Reijnders MRF et al.
Journal of Medical Genetics, 2018
Structural basis of nucleic-acid recognition and double-strand unwinding by the essential neuronal protein Pur-alpha.
Weber J et al.
Elife, 2016
De novo mutations in PURA are associated with hypotonia and developmental delay.
Tanaka AJ et al.
Cold Spring Harbor Molecular Case Studies, 2015
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
Lalani SR et al.
American Journal of Human Genetics, 2014
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