Novel biallelic loss of
            <i>EEF1B2</i>
            function links to autosomal recessive intellectual disability

Gong, Pan; Liu, Jing; Jiao, Xianru; Niu, Yue; Wang, Jia; Wang, Xiaodong; Yang, Zhixian

doi:10.1002/humu.24329

Cited by 5 publications

(3 citation statements)

References 16 publications

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“…EEF1B2, PSMD14, HINT1, and SNRPD2 were proved to be eligible predictors (AUC > 0.7). It was reported that a novel biallelic loss of EEF1B2 function was reported to be associated with autosomal recessive intellectual disability [ 36 ]. In addition, EEF1B2 was also a potential biomarker for the pathogenesis of Alzheimer’s disease [ 37 ].…”

Section: Discussionmentioning

confidence: 99%

Identification and Validation of Novel Potential Pathogenesis and Biomarkers to Predict the Neurological Outcome after Cardiac Arrest

Zhang

Liu

et al. 2022

Brain Sciences

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Predicting neurological outcomes after cardiac arrest remains a major issue. This study aimed to identify novel biomarkers capable of predicting neurological prognosis after cardiac arrest. Expression profiles of GSE29540 and GSE92696 were downloaded from the Gene Expression Omnibus (GEO) database to obtain differentially expressed genes (DEGs) between high and low brain performance category (CPC) scoring subgroups. Weighted gene co-expression network analysis (WGCNA) was used to screen key gene modules and crossover genes in these datasets. The protein-protein interaction (PPI) network of crossover genes was constructed from the STRING database. Based on the PPI network, the most important hub genes were identified by the cytoHubba plugin of Cytoscape software. Eight hub genes (RPL27, EEF1B2, PFDN5, RBX1, PSMD14, HINT1, SNRPD2, and RPL26) were finally screened and validated, which were downregulated in the group with poor neurological prognosis. In addition, GSEA identified critical pathways associated with these genes. Finally, a Pearson correlation analysis showed that the mRNA expression of hub genes EEF1B2, PSMD14, RPFDN5, RBX1, and SNRPD2 were significantly and positively correlated with NDS scores in rats. Our work could provide comprehensive insights into understanding pathogenesis and potential new biomarkers for predicting neurological outcomes after cardiac arrest.

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Section: Discussionmentioning

confidence: 99%

Identification and Validation of Novel Potential Pathogenesis and Biomarkers to Predict the Neurological Outcome after Cardiac Arrest

Zhang

Liu

et al. 2022

Brain Sciences

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“…In addition, eef-1B.2 and rnp-5 are associated with human neurological disease. Pathogenic variants in EEF1B.2 cause autosomal recessive intellectual disability [128], while rnp-5 ortholog RNPS1 is a risk factor for both intellectual disability and autism [129,130]. To our knowledge, neither rps-16 nor rpl-28 have been studied in the nervous system of any organism.…”

Section: Elegans As a Discovery Platform For Novel Associative Memory...mentioning

confidence: 99%

Behavioral screening of conserved RNA-binding proteins reveals CEY-1/YBX RNA-binding protein dysfunction leads to impairments in memory and cognition

Hayden,

Brandel,

Merlau

et al. 2024

Preprint

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RNA-binding proteins (RBPs) are key regulators of translation and plasticity in the nervous system, which are processes required for learning and memory. Indeed, RBP dysfunction has been linked to a wide range of neurological disorders where cognitive impairments are a key symptom. However, the human genome encodes nearly 2,000 RBPs, many of which have yet to be characterized with regards to neurological phenotypes like associative behaviors. To address this, we used the model organismC. elegansto perform a targeted screen assessing the role of 20 conserved RBPs in learning and memory. We identified 16 associative memory regulators, eight of which are novel. Intriguingly, three novel memory regulators are in theC. elegansY-Box (CEY) RNA-binding protein family:cey-1, cey-2, andcey-3. We determined thatcey-1is the closest ortholog to the mammalian Y-Box RNA-binding (YBX) proteins and that CEY-1 is specifically required in the nervous system for the ability to remember. Additionally, CEY-1 is a memory promoting molecule, as increasing CEY-1 only in the nervous system improves memory. We also examined human copy number variation datasets and found that copy number deletions in the humanYBX1andYBX3may be associated with neurological symptoms including intellectual disability, which mirror our findings inC. elegans. We identified a similar association with a rare, mono-allelicYBX3variant in individuals with neurological findings. Strikingly, introducing this predicted deleteriousYBX3variant into the endogenouscey-1locus caused memory deficits in the worm. Our study highlights that high-throughput approaches in the worm reveal novel and conserved regulators of memory and identified a potential new source of rare neurological disease linked to RBP dysfunction.

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“…EEF1B2 was found to be overexpressed in lung cancer in humans [19]. Conversely, intellectual disability is caused by the loss of function in the EEF1B2 gene [20,21]. Nevertheless, the expression of EEF1B2 in BMSCs and its function and underlying molecular mechanisms in the modulation of BMSCs differentiation are still poorly understood.BMSCs exhibit a high degree of plasticity, allowing them to differentiate into various cell lineages.…”

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confidence: 99%

EEF1B2 regulates bone marrow-derived mesenchymal stem cells bone-fat balance via Wnt/β-catenin signaling

Feng,

Wei

et al. 2024

Cell. Mol. Life Sci.

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The pathological advancement of osteoporosis is caused by the uneven development of bone marrow-derived mesenchymal stem cells (BMSCs) in terms of osteogenesis and adipogenesis. While the role of EEF1B2 in intellectual disability and tumorigenesis is well established, its function in the bone-fat switch of BMSCs is still largely unexplored. During the process of osteogenic differentiation, we observed an increase in the expression of EEF1B2, while a decrease in its expression was noted during adipogenesis. Suppression of EEF1B2 hindered the process of osteogenic differentiation and mineralization while promoting adipogenic differentiation. On the contrary, overexpression of EEF1B2 enhanced osteogenesis and strongly inhibited adipogenesis. Furthermore, the excessive expression of EEF1B2 in the tibias has the potential to mitigate bone loss and decrease marrow adiposity in mice with osteoporosis. In terms of mechanism, the suppression of β-catenin activity occurred when EEF1B2 function was suppressed during osteogenesis. Our collective findings indicate that EEF1B2 functions as a regulator, influencing the differentiation of BMSCs and maintaining a balance between bone and fat. Our finding highlights its potential as a therapeutic target for diseases related to bone metabolism.

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Novel biallelic loss of EEF1B2 function links to autosomal recessive intellectual disability

Cited by 5 publications

References 16 publications

Identification and Validation of Novel Potential Pathogenesis and Biomarkers to Predict the Neurological Outcome after Cardiac Arrest

Identification and Validation of Novel Potential Pathogenesis and Biomarkers to Predict the Neurological Outcome after Cardiac Arrest

Behavioral screening of conserved RNA-binding proteins reveals CEY-1/YBX RNA-binding protein dysfunction leads to impairments in memory and cognition

EEF1B2 regulates bone marrow-derived mesenchymal stem cells bone-fat balance via Wnt/β-catenin signaling

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