Hunt D et al. Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. J Med Genet. 2014;51:806–13. PMID: 25342064.
lalani S R et al. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet 2014;95:579–83. PMID: 25439098.
Tanaka A J et al. De novo mutations in PURA are associated with hypotonia and developmental delay. Cold Spring Harb Mol Case Stud. 2015;1:a000356. PMID: 27148565.
Reijnders M R F et al. PURA syndrome: clinical delineation and genotype- phenotype study in 32 individuals with review of published literature. J Med Genet .2017;0:1–10. PMID: 29097605.
Reijnders M R F et al. PURA-Related Neurodevelopmental Disorders. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. PMID: 28448108.
Lee B H et al. Expanding the neurodevelopmental phenotype of PURA syndrome. Am J Med Genet. 2018;176A:56–67. PMID: 29150892.
Deciphering Developmental Disorders Study et al. Large-scale discovery of novel genetic causes of developmental disorders. Nature. 2015;519:223–8. PMID: 25533962.
Bonaglia M C et al. Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA. Mol Cytogenet. 2015;8:89-95. PMID: 26582469.
Other papers regarding the PURA gene and Pur-alpha, but not limited to:
Bergemann A D et al. Sequence of cDNA comprising the human pur gene and sequence-specific single-stranded-DNA-binding properties of the encoded protein. Mol Cell Biol. 1992;2:5673-5682. PMID: 1448097.
Ma Z W et al. Localization of PURA, the gene encoding the sequence-specific single-stranded-DNA-binding protein Pur-alpha, to chromosome band 5q31. Cytogenet Cell Genet. 1995;71:64-67. PMID: 7606931.
Gallia G L et al. Pur-alpha: a multifunctional single-stranded DNA- and RNA-binding protein. Nucleic Acids Res. 2000;28:3197-3205. PMID: 10954586.
Khalili K et al. Pur-alpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse. Mol Cell Biol. 2003;23:6857-6875. PMID: 12972605.
White M K et al. Multiple roles for Puralpha in cellular and viral regulation. Cell Cycle. 2009;8(3):1-7. PMID: 19182532.
Hokkanen S et al. Lack of Pur-alpha alters postnatal brain development and causes megalencephaly. Hum Mol Genet. 2012;21(3):473-84. PMID: 22010047.
Weber J et al. Structural basis of nucleic-acid recognition and double-strand unwinding by the essential neuronal protein Pur-alpha. eLife. 2016;5. PMID: 26744780.