ArticleHuman molecular genetics2012
Differential effects of a polyalanine tract expansion in Arx on neural development and gene expression.
Article in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 46 citations in OpenAlex.
- The contribution of short tandem repeats to splicing variation in the human cortex.bioRxiv : the preprint server for biology · 2026Article
- Cellular Functional Analyses ofHuman mutation · 2026Article
- Single-Molecule Array (Simoa) Technology as a Highly Sensitive Screening Tool for Protein-Protein Interactions.ACS sensors · 2025Article
- Loss of postnatal Arx transcriptional activity in parvalbumin interneurons reveals non-cell autonomous disturbances in CA1 pyramidal cells.Neuroscience · 2024Article
- Microsatellite density landscapes illustrate short tandem repeats aggregation in the complete reference human genome.BMC genomics · 2024Article
- Native functions of short tandem repeats.eLife · 2023Article
- Generation of FLAG-tagged Arx knock-in mouse model.Genesis (New York, N.Y. : 2000) · 2022Article
- Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy.Human molecular genetics · 2022Article
- Genetic Regulation of Vertebrate Forebrain Development by Homeobox Genes.Frontiers in neuroscience · 2022Review
- Article
- Identification and validation of the phosphorylation sites on Aristaless-related homeobox protein.Bioscience reports · 2020Article
- Article
- The impact of short tandem repeat variation on gene expression.Nature genetics · 2019Article
- Arx Expression Suppresses Ventralization of the Developing Dorsal Forebrain.Scientific reports · 2019Article
- A new mouse model of ARX dup24 recapitulates the patients' behavioral and fine motor alterations.Human molecular genetics · 2018Article
- Tandem repeats mediating genetic plasticity in health and disease.Nature reviews. Genetics · 2018Review
- INTERNEURONOPATHIES AND THEIR ROLE IN EARLY LIFE EPILEPSIES AND NEURODEVELOPMENTAL DISORDERS.Epilepsia open · 2017Article
- A novel mutation in the OAR domain of the ARX gene.Clinical case reports · 2017Article
- Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.Current neurology and neuroscience reports · 2017Review
- Aristaless Related Homeobox (ARX) Interacts with β-Catenin, BCL9, and P300 to Regulate Canonical Wnt Signaling.PloS one · 2017Article
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
Polyalanine (poly-A) tracts exist in 494 annotated proteins; to date, expansions in these tracts have been associated with nine human diseases. The pathogenetic mechanism by which a poly-A tract results in these various human disorders remains uncertain. To understand the role of this mutation type, we investigated the change in functional properties of the transcription factor Arx when it has an expanded poly-A tract (Arx(E)), a mutation associated with infantile spasms and intellectual disabilities in humans. We found that although Arx(E) functions normally in the dorsal brain, its function in subpallial-derived populations of neurons is compromised. These contrasting functions are associated with the misregulation of Arx targets through the loss of the ability of Arx(E) to interact with the Arx cofactor Tle1. Our data demonstrate a novel mechanism for poly-A expansion diseases: the misregulation of a subset of target genes normally regulated by a transcription factor.
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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.