ArticleMolecular and cellular biology2003
Puralpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse.
Article in Molecular and cellular biology, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 101 papers, 2 of them syntheses that pooled it.
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Who cites it
101 citing papers in PubMed, 2 syntheses or guidelines pooled it, 192 citations in OpenAlex.
- Genotype-phenotype variations in PURA syndrome: Asian and non-Asian perspectives from a systematic review.Orphanet journal of rare diseases · 2025Pooled it
- Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options.International journal of molecular sciences · 2023Pooled it
- 5q31 duplications encompassing PURA are associated with a neurodevelopmental disorder.European journal of human genetics : EJHG · 2026Article
- Review
- FAM120A - a protein inserted in the ALS disease network.Scientific reports · 2026Article
- The evolution of gene regulation in mammalian cerebellum development.Science (New York, N.Y.) · 2026Article
- Spatial Changes in Hippocampal Transcriptomic Profiles Following Limbic Non-convulsive Status Epilepticus: Insights into Long-Term Inflammation and Cognitive Deficits.Molecular neurobiology · 2026Article
- Exploring molecular signatures in PURA syndrome using muscle proteomics and serum biomarkers.Journal of neurology · 2026Article
- PURA protein mislocalisation in the nucleus: mechanistic basis for transcriptional dysregulation and DNA unwinding deficits in a model of the p.L148Wfs*77Journal of medical genetics · 2025Article
- Triple mosaic variants of PURA in a patient with multiple congenital anomalies.Journal of human genetics · 2025Article
- PURA syndrome-a genetic cause of a neurodevelopmental disorder-case report.Frontiers in pediatrics · 2025Article
- Review
- First report of PURA syndrome in a Colombian patient with de novo missense variant c.692T>C (p.Phe231Ser)Biomedica : revista del Instituto Nacional de Salud · 2024Article
- Comparative Genomics of the World's Smallest Mammals Reveals Links to Echolocation, Metabolism, and Body Size Plasticity.Genome biology and evolution · 2024Article
- LINC01320 facilitates cell proliferation and migration of ovarian cancer via regulating PURB/DDB2/NEDD4L/TGF-β axis.Scientific reports · 2024Article
- PURA syndrome-causing mutations impair PUR-domain integrity and affect P-body association.eLife · 2024Article
- Movement Disorders in PURA Syndrome: A Video Case Series.Movement disorders clinical practice · 2023Article
- Review
- Aromatic Residues Dictate the Transcriptional Repressor and Single-Stranded DNA Binding Activities of Purine-Rich Element Binding Protein B.Biochemistry · 2023Article
- Heterozygous c.175C>T variant inClinical case reports · 2023Article
41 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The single-stranded DNA- and RNA-binding protein, Puralpha, has been implicated in many biological processes, including control of transcription of multiple genes, initiation of DNA replication, and RNA transport and translation. Deletions of the PURA gene are frequent in acute myeloid leukemia. Mice with targeted disruption of the PURA gene in both alleles appear normal at birth, but at 2 weeks of age, they develop neurological problems manifest by severe tremor and spontaneous seizures and they die by 4 weeks. There are severely lower numbers of neurons in regions of the hippocampus and cerebellum of PURA(-/-) mice versus those of age-matched +/+ littermates, and lamination of these regions is aberrant at time of death. Immunohistochemical analysis of MCM7, a protein marker for DNA replication, reveals a lack of proliferation of precursor cells in these regions in the PURA(-/-) mice. Levels of proliferation were also absent or low in several other tissues of the PURA(-/-) mice, including those of myeloid lineage, whereas those of PURA(+/-) mice were intermediate. Evaluation of brain sections indicates a reduction in myelin and glial fibrillary acidic protein labeling in oligodendrocytes and astrocytes, respectively, indicating pathological development of these cells. At postnatal day 5, a critical time for cerebellar development, Puralpha and Cdk5 were both at peak levels in bodies and dendrites of Purkinje cells of PURA(+/+) mice, but both were absent in dendrites of PURA(-/-) mice. Puralpha and Cdk5 can be coimmunoprecipitated from brain lysates of PURA(+/+) mice. Immunohistochemical studies reveal a dramatic reduction in the level of both phosphorylated and nonphosphorylated neurofilaments in dendrites of the Purkinje cell layer and of synapse formation in the hippocampus. Overall results are consistent with a role for Puralpha in developmentally timed DNA replication in specific cell types and also point to a newly emerging role in compartmentalized RNA transport and translation in neuronal dendrites.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.