Associated Papers
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
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
Neonatal PURA syndrome: a case report and literature review.
Liu Y et al.
Translational Pediatrics, 2021
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
Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.
Hunt D et al.
Journal of Medical Genetics, 2014
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