ReviewFEBS letters2012
Molecular insights into the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1.
Review in FEBS letters, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
21 citing papers in PubMed, 32 citations in OpenAlex.
- 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
- Gene-specific DNA methylation responses to PbEnvironmental epigenetics · 2026Article
- The mechanosensitive geneAmerican journal of physiology. Cell physiology · 2024Article
- Molecular Determinants of PQBP1 Binding to the HIV-1 Capsid Lattice.Journal of molecular biology · 2024Article
- Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy.European journal of human genetics : EJHG · 2023Article
- PQBP1 regulates the cellular inflammation induced by avian reovirus and interacts with the viral p17 protein.Virus research · 2023Article
- PQBP1: The Key to Intellectual Disability, Neurodegenerative Diseases, and Innate Immunity.International journal of molecular sciences · 2022Review
- The α-Arrestin ARRDC3 Is an Emerging Multifunctional Adaptor Protein in Cancer.Antioxidants & redox signaling · 2022Review
- Tau activates microglia via the PQBP1-cGAS-STING pathway to promote brain inflammation.Nature communications · 2021Article
- Fatal Attraction: The Case of Toxic Soluble Dimers of Truncated PQBP-1 Mutants in X-Linked Intellectual Disability.International journal of molecular sciences · 2021Review
- Current View on EpCAM Structural Biology.Cells · 2020Review
- The Renpenning syndrome-associated protein PQBP1 facilitates the nuclear import of splicing factor TXNL4A through the karyopherin β2 receptor.The Journal of biological chemistry · 2020Article
- MotifAnalyzer-PDZ: A computational program to investigate the evolution of PDZ-binding target specificity.Protein science : a publication of the Protein Society · 2019Article
- NEDD4 family ubiquitin ligases associate with LCMV Z's PPXY domain and are required for virus budding, but not via direct ubiquitination of Z.PLoS pathogens · 2019Article
- WW domain-binding protein 2: an adaptor protein closely linked to the development of breast cancer.Molecular cancer · 2017Review
- Changes in the folding landscape of the WW domain provide a molecular mechanism for an inherited genetic syndrome.Scientific reports · 2016Article
- Cross-Tissue Regulatory Gene Networks in Coronary Artery Disease.Cell systems · 2016Article
- Genome-wide analysis of the WW domain-containing protein genes in silkworm and their expansion in eukaryotes.Molecular genetics and genomics : MGG · 2015Article
- Versatile communication strategies among tandem WW domain repeats.Experimental biology and medicine (Maywood, N.J.) · 2015Review
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
Abstract
The WW domain-containing PQBP1 (polyglutamine tract-binding protein 1) protein regulates mRNA processing and gene transcription. Mutations in the PQBP1 gene were reported in several X chromosome-linked intellectual disability (XLID) disorders, including Golabi-Ito-Hall (GIH) syndrome. The missense mutation in the GIH syndrome maps within a functional region of the PQBP1 protein known as the WW domain. The causative mutation of PQBP1 replaces the conserved tyrosine (Y) at position 65 within the aromatic core of the WW domain to cysteine (C), which is a chemically significant change. In this short review, we analyze structural models of the Y65C mutated and wild type WW domains of PQBP1 in order to infer potential molecular mechanisms that render the mutated PQBP1 protein inactive in terms of ligand binding and its function as a regulator of mRNA splicing.
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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.