ArticleSmall GTPases2010
Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability.
Article in Small GTPases, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
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Who cites it
17 citing papers in PubMed, 32 citations in OpenAlex.
- Multi-omics characterization of chronic social defeat stress recall-activated nuclei in Arc-GFP mice.Molecular psychiatry · 2026Article
- Commentary: BAG3 as a Mediator of Endosome Function and Tau Clearance.Neuroscience · 2023Review
- Differences in Expression ofInternational journal of molecular sciences · 2022Article
- Article
- Pharmacological modulation of AMPA receptors rescues specific impairments in social behavior associated with the A350V Iqsec2 mutation.Translational psychiatry · 2021Article
- Altered excitatory transmission onto hippocampal interneurons in the IQSEC2 mouse model of X-linked neurodevelopmental disease.Neurobiology of disease · 2020Article
- Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.Genes · 2020Article
- Psychiatric features and variable neurodevelopment outcome in four females with IQSEC2 spectrum disorder.Journal of genetics · 2020Article
- Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.American journal of human genetics · 2019Article
- IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.American journal of medical genetics. Part A · 2015Article
- Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms.Neuroscience and biobehavioral reviews · 2014Review
- Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.European journal of human genetics : EJHG · 2014Article
- NotI microarrays: novel epigenetic markers for early detection and prognosis of high grade serous ovarian cancer.International journal of molecular sciences · 2012Article
- BRAG2/GEP100/IQSec1 interacts with clathrin and regulates α5β1 integrin endocytosis through activation of ADP ribosylation factor 5 (Arf5).The Journal of biological chemistry · 2012Article
- Emerging major synaptic signaling pathways involved in intellectual disability.Molecular psychiatry · 2012Review
- A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome.Molecular syndromology · 2012Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in IQSEC2, a guanine nucleotide exchange factor for the ADP-ribosylation factor (Arf) family of small GTPases have recently been shown to cause non-syndromic X-linked intellectual disability (ID), characterised by substantial limitations in intellectual functioning and adaptive behaviour. This discovery was revealed by a combination of large-scale resequencing of the X chromosome, and key functional assays that revealed a reduction, but not elimination, of IQSEC2 GEF activity for mutations affecting conserved amino acids in the IQ-like and Sec7 domains. Compromised GTP binding activity of IQSEC2 leading to reduced activation of selected Arf substrates (Arf1, Arf6) is expected to impact on cytoskeletal organization, dendritic spine morphology and synaptic organisation. This study highlights the need for further investigation of the IQSEC gene family and Arf GTPases in neuronal morphology and synaptic function, and suggests that the genes encoding the ArfGEFs IQSEC1 and IQSEC3 should be considered as candidates for screening in autosomal ID.
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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.