The small GTPase Arf6 is dysregulated in a mouse model for fragile X syndrome

Briševac, Dušica; Scholz, Ralf; Du, Dan; Elagabani, Mohammad Nael; Köhr, Georg; Kornau, Hans‐Christian

doi:10.1111/jnc.15230

Cited by 6 publications

(4 citation statements)

References 98 publications

(203 reference statements)

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“…43 In mouse model for fragile X syndrome, increased Arf6 activity induces high levels of actin polymerization. 44 Moreover, the ability of Arf6-RhoB complex in coordinating actin cytoskeleton remodeling is central to its role in cancer cell invasion. 45 A previous report in mouse meiosis indicated that Arf6 depletion affected actin filamentmediated spindle movement.…”

Section: Discussionmentioning

confidence: 99%

“…For example, Arf6 regulates actin cytoskeleton dynamics and membrane trafficking for neuron morphology development and synaptic transmission 43 . In mouse model for fragile X syndrome, increased Arf6 activity induces high levels of actin polymerization 44 . Moreover, the ability of Arf6‐RhoB complex in coordinating actin cytoskeleton remodeling is central to its role in cancer cell invasion 45 .…”

Section: Discussionmentioning

confidence: 99%

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Arf6 GTPase deficiency leads to porcine oocyte quality decline during aging

Zhang,

Jiao,

Wang

et al. 2024

The FASEB Journal

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Arf6 is a member of ADP‐ribosylation factor (Arf) family, which is widely implicated in the regulation of multiple physiological processes including endocytic recycling, cytoskeletal organization, and membrane trafficking during mitosis. In this study, we investigated the potential relationship between Arf6 and aging‐related oocyte quality, and its roles on organelle rearrangement and cytoskeleton dynamics in porcine oocytes. Arf6 expressed in porcine oocytes throughout meiotic maturation, and it decreased in aged oocytes. Disruption of Arf6 led to the failure of cumulus expansion and polar body extrusion. Further analysis indicated that Arf6 modulated ac‐tubulin for meiotic spindle organization and microtubule stability. Besides, Arf6 regulated cofilin phosphorylation and fascin for actin assembly, which further affected spindle migration, indicating the roles of Arf6 on cytoskeleton dynamics. Moreover, the lack of Arf6 activity caused the dysfunction of Golgi and ER for protein synthesis and signal transduction. Mitochondrial dysfunction was also observed in Arf6‐deficient porcine oocytes, which was supported by the increased ROS level and abnormal membrane potential. In conclusion, our results reported that insufficient Arf6 was related to aging‐induced oocyte quality decline through spindle organization, actin assembly, and organelle rearrangement in porcine oocytes.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Arf6 GTPase deficiency leads to porcine oocyte quality decline during aging

Zhang,

Jiao,

Wang

et al. 2024

The FASEB Journal

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“…Circ_0001493, circ_0000487, circ_0001468, and circ_0001345 are spliced from IQ motif and sec7 domain-containing protein 1 (Iqsec1), x-ray repair cross complementing 4 (Xrcc4), homeodomain-interacting protein kinase 2 (Hipk2), and F-box/LRR repeat protein 5 (Fbxl5), respectively, which may be linked to neurocognitive disorders ( Zhang et al, 2013 ; Gerez et al, 2019 ; Liang et al, 2020 ; Briševac et al, 2021 ). Moreover, circ_0001634 originates through back-splicing events from Fam53b, which has been reported to regulate Wnt signal transduction by altering β-catenin nuclear localization ( Kizil et al, 2014 ).…”

Section: Discussionmentioning

confidence: 99%

Decoding competitive endogenous RNA regulatory network in postoperative cognitive dysfunction

et al. 2022

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Postoperative cognitive dysfunction (POCD) is a common postoperative neurological complication in elderly patients. Circular RNAs (circRNAs) are abundant in the mammalian brain and can probably regulate cognitive function. However, the competitive endogenous RNA (ceRNA) regulatory network in POCD remains illiterate. Transcriptomic signatures in the hippocampus of POCD mice derived from the Gene Expression Omnibus (GEO) dataset GSE190880, GSE95070, and GSE115440 were used to identify the circRNA, miRNA, and mRNA expression profiles of POCD mice compared with controls, respectively. A set of differentially expressed RNAs, including 119 circRNAs, 33 miRNAs, and 49 mRNAs were identified. Transcript validation showed the enhanced expression of circ_0001634, circ_0001345, and circ_0001493. A ceRNA regulatory network composed of three circRNAs, three miRNAs, and six mRNAs was established. The hub mRNAs in the ceRNA network were further found to be involved in the hormone catabolic process and regulation of canonical Wnt signaling pathway, revealing their crucial role in POCD. Finally, three miRNAs and four mRNAs were verified by qRT-PCR. These results based on bioinformatics and PCR array suggest that circ_0001634/miR-490-5p/Rbm47, circ_0001634/miR-490-5p/Sostdc1, circ_0001634/miR-7001-5p/Sostdc1, circ_0001345/miR-7001-5p/Sostdc1, and circ_0001493/miR-7001-5p/Sostdc1 may be novel diagnostic biomarkers and therapeutic targets for POCD.

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“…It is an X-linked gene located at Xp11.2. The Sec7 domain in the IQSEC2 protein catalyzes the GDP–GTP exchange on the ARF superfamily of small GTPases (Briševac et al, 2021 ). The IQSEC2 protein is mainly expressed in the brain.…”

Section: Introductionmentioning

confidence: 99%

IQSEC2-related encephalopathy in male children: Novel mutations and phenotypes

Liu

Zhang

Lin

et al. 2022

Front. Mol. Neurosci.

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The isoleucine–glutamine (IQ) motif and Sec7 domain-containing protein 2 (IQSEC2) gene, located at Xp11. 2, are associated with nervous system diseases, such as epilepsy, autism, and intellectual disabilities. Gender-related differences in the severity of phenotype severity have been described previously. Here, we report the details of seven male children with IQSEC2 mutations from different families. During this investigation, we explored the relationship between the genotype and phenotype of IQSEC2 mutations; to do so, we recruited seven children with pathogenic/likely pathogenic IQSEC2 mutations who were diagnosed with global developmental delay and/or epilepsy. Their clinical features were assessed, and Trio-based whole-exome sequencing (trio WES) was conducted in seven pedigrees. A variety of algorithms and computational tools were used to calculate the pathogenicity, protein stability, conservation, side chain properties, and protein-protein interactions of mutated proteins. The seven patients ranged in age from 18 months to 5 years. Among them, six children were found to have both developmental delay and epilepsy, and one child only exhibited developmental delay. Four novel mutations (c.316C > T, c.443_4 44dup, c.3235T > C, and c.1417G > T) were newly reported. Two patients did not have truncated aberrant proteins caused by missense mutations. Still, they did have severe phenotypes, such as early-onset epilepsy in infancy, because the mutations were located in domains like the pleckstrin homology and IQ calmodulin-binding motif domains. The bioinformatics analysis also proved that missense mutations may be located in the functional region, which affects protein stability and is harmful. In summary, severe phenotypes, such as early-onset epilepsy in infancy, occur in male patients with a missense mutation in specific domains (e.g., pleckstrin homology and IQ calmodulin-binding motif domains). Some female individuals with IQSEC2 mutations may be asymptomatic because of the skewed inactivation of the X chromosome.

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The small GTPase Arf6 is dysregulated in a mouse model for fragile X syndrome

Abstract: This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.

Cited by 6 publications

References 98 publications

Arf6 GTPase deficiency leads to porcine oocyte quality decline during aging

Arf6 GTPase deficiency leads to porcine oocyte quality decline during aging

Decoding competitive endogenous RNA regulatory network in postoperative cognitive dysfunction

IQSEC2-related encephalopathy in male children: Novel mutations and phenotypes

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