ArticleNeuron2013
The X-linked intellectual disability protein PHF6 associates with the PAF1 complex and regulates neuronal migration in the mammalian brain.
Article in Neuron, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers, 2 of them syntheses that pooled it.
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Who cites it
69 citing papers in PubMed, 2 syntheses or guidelines pooled it, 99 citations in OpenAlex.
- Expression Profile of miRs in Mesial Temporal Lobe Epilepsy: Systematic Review.International journal of molecular sciences · 2022Pooled it
- Genome-wide association study of cognitive function in diverse Hispanics/Latinos: results from the Hispanic Community Health Study/Study of Latinos.Translational psychiatry · 2020Pooled it
- Phf6 truncating mutation drives leukemogenesis via disrupted epigenetic regulation in mice.Leukemia · 2026Article
- Regulation of stress susceptibility by chromatin-binding protein PHF6 in the pituitary intermediate lobe.Molecular psychiatry · 2026Article
- Article
- PHF6 interacts with the LMO2 complex in T-cell acute lymphoblastic leukemia.Haematologica · 2026Article
- Systematic Pan-Cancer Analysis Identifies PHF6 as an Immunological and Prognostic Biomarker.Diagnostics (Basel, Switzerland) · 2025Article
- The Epigenetic Reader PHF23 Is Required for Embryonic Neurogenesis.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Master regulators of neurogenesis: the dynamic roles of Ephrin receptors across diverse cellular niches.Translational psychiatry · 2024Review
- Article
- PHF6 suppresses self-renewal of leukemic stem cells in AML.Leukemia · 2024Article
- A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis.Current obesity reports · 2024Review
- PHF6-mediated transcriptional control of NSC via Ephrin receptors is impaired in the intellectual disability syndrome BFLS.EMBO reports · 2024Article
- PHF6 suppresses self-renewal of leukemic stem cells in AML.bioRxiv : the preprint server for biology · 2024Article
- Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.European journal of human genetics : EJHG · 2023Article
- Borjeson-Forssman-Lehmann Syndrome: Clinical Features and Diagnostic Challenges.Brain & NeuroRehabilitation · 2023Article
- GRM7 gene mutations and consequences for neurodevelopment.Pharmacology, biochemistry, and behavior · 2023Review
- BörjesonZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2023Article
- Epigenetic reversal of hematopoietic stem cell aging in Phf6-knockout mice.Nature aging · 2022Article
- Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.Clinical genetics · 2022Article
9 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 2 institutions in 2 countries.
Funding
Abstract
Intellectual disability is a prevalent disorder that remains incurable. Mutations of the X-linked protein PHF6 cause the intellectual disability disorder Börjeson-Forssman-Lehmann syndrome (BFLS). However, the biological role of PHF6 relevant to BFLS pathogenesis has remained unknown. We report that knockdown of PHF6 profoundly impairs neuronal migration in the mouse cerebral cortex in vivo, leading to the formation of white matter heterotopias displaying neuronal hyperexcitability. We find that PHF6 physically associates with the PAF1 transcription elongation complex, and inhibition of PAF1 phenocopies the PHF6 knockdown-induced migration phenotype in vivo. We also identify Neuroglycan C/Chondroitin sulfate proteoglycan 5 (NGC/CSPG5), a potential schizophrenia susceptibility gene, as a critical downstream target of PHF6 in the control of neuronal migration. These findings define PHF6, PAF1, and NGC/CSPG5 as components of a cell-intrinsic transcriptional pathway that orchestrates neuronal migration in the brain, with important implications for the pathogenesis of developmental disorders of cognition.
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Registered trials
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.