ArticleAmerican journal of human genetics2004
Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.
Article in American journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 79 citations in OpenAlex.
- Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.The Journal of clinical investigation · 2021Trial
- Disrupted PQBP1-HNRNPU-LINE-1 axis underlies aberrant neurodevelopment in renpenning syndrome.Molecular psychiatry · 2026Article
- The missense mutation Y65C in PQBP1 causes microcephaly and cognitive deficits through a combination of partial loss-of-function and gain-of-function effects.Nature communications · 2026Article
- Renpenning syndrome caused by the c.459_462delAGAG mutation in PQBP1: a case report and literature review.Frontiers in genetics · 2026Article
- Splicing Factor PQBP1 Curtails BAX Expression to Promote Ovarian Cancer Progression.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.Molecular psychiatry · 2024Article
- Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy.European journal of human genetics : EJHG · 2023Article
- A rigorousFrontiers in molecular neuroscience · 2022Article
- Fatal Attraction: The Case of Toxic Soluble Dimers of Truncated PQBP-1 Mutants in X-Linked Intellectual Disability.International journal of molecular sciences · 2021Review
- High Expression ofJournal of Cancer · 2019Article
- The intellectual disability gene PQBP1 rescues Alzheimer's disease pathology.Molecular psychiatry · 2018Article
- Ultra-Early Phase pathologies of Alzheimer's disease and other neurodegenerative diseases.Proceedings of the Japan Academy. Series B, Physical and biological sciences · 2017Review
- Article
- The splicing factor PQBP1 regulates mesodermal and neural development through FGF signaling.Development (Cambridge, England) · 2014Article
- Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disorders.Molecular neurobiology · 2013Review
- Sox2 transcriptionally regulates PQBP1, an intellectual disability-microcephaly causative gene, in neural stem progenitor cells.PloS one · 2013Article
- Fragile X and X-linked intellectual disability: four decades of discovery.American journal of human genetics · 2012Review
- Solution model of the intrinsically disordered polyglutamine tract-binding protein-1.Biophysical journal · 2012Article
- Drosophila PQBP1 regulates learning acquisition at projection neurons in aversive olfactory conditioning.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2010Article
- Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing.The Journal of biological chemistry · 2010Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 4 countries.
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Abstract
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Registered trials
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