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2006 1
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36 results

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MCPIP1 restrains mucosal inflammation by orchestrating the intestinal monocyte to macrophage maturation via an ATF3-AP1S2 axis.
Lu H, Zhang C, Wu W, Chen H, Lin R, Sun R, Gao X, Li G, He Q, Gao H, Wu X, Lin J, Zhu R, Niu J, Kolattukudy PE, Liu Z. Lu H, et al. Gut. 2023 May;72(5):882-895. doi: 10.1136/gutjnl-2022-327183. Epub 2022 Sep 8. Gut. 2023. PMID: 37015751
Notably, in vivo blockage of Ap1s2 ameliorated DSS-induced colitis in Mcpip1 (deltaMye) mice through enhancing intestinal macrophage maturation. Furthermore, MCPIP1, ATF3 and AP1S2 were highly expressed in inflamed mucosa of active patients with IBD and blockage of …
Notably, in vivo blockage of Ap1s2 ameliorated DSS-induced colitis in Mcpip1 (deltaMye) mice through enhancing intestinal macrophage …
MiR-204-5p-targeted AP1S2 is necessary for papillary thyroid carcinoma.
Gu Y, Zhang X, Li Y, Shi J, Cui H, Ren Y, Liu S, Qiao Y, Cheng Y, Liu Y. Gu Y, et al. Mol Cell Endocrinol. 2023 Aug 20;574:111993. doi: 10.1016/j.mce.2023.111993. Epub 2023 Jun 15. Mol Cell Endocrinol. 2023. PMID: 37328093
Furthermore, we documented that miR-204-5p inhibited proliferation, migration, invasion, and cell cycle progression and triggered apoptosis of PTC cells via cell biology experiments. Finally, we identified that AP1S2 was a target of miR-204-5p using RNA-seq, iTRAQ, and bio …
Furthermore, we documented that miR-204-5p inhibited proliferation, migration, invasion, and cell cycle progression and triggered apoptosis …
A novel splice site mutation in AP1S2 gene for X-linked mental retardation in a Chinese pedigree and literature review.
Huo L, Teng Z, Wang H, Liu X. Huo L, et al. Brain Behav. 2019 Mar;9(3):e01221. doi: 10.1002/brb3.1221. Epub 2019 Feb 4. Brain Behav. 2019. PMID: 30714330 Free PMC article. Review.
BACKGROUND: Pettigrew syndrome (PGS) is a rare X-linked mental retardation that caused by AP1S2 mutation. The pathogenesis of AP1S2 deficiency has remained elusive. The purpose of this study is to give a comprehensive overview of the phenotypic and genetic spectrum …
BACKGROUND: Pettigrew syndrome (PGS) is a rare X-linked mental retardation that caused by AP1S2 mutation. The pathogenesis of AP1S …
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).
Cacciagli P, Desvignes JP, Girard N, Delepine M, Zelenika D, Lathrop M, Lévy N, Ledbetter DH, Dobyns WB, Villard L. Cacciagli P, et al. Eur J Hum Genet. 2014 Mar;22(3):363-8. doi: 10.1038/ejhg.2013.135. Epub 2013 Jun 12. Eur J Hum Genet. 2014. PMID: 23756445 Free PMC article.
We report additional phenotype details for several of the affected individuals, allowing us to further refine the phenotype corresponding to this X-linked intellectual disability syndrome. The AP1S2 c.426+1 G>T mutation segregates with the disease in the Pettigrew syndr …
We report additional phenotype details for several of the affected individuals, allowing us to further refine the phenotype corresponding to …
Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability.
Zhu D, Wang M, Xu Y, Zhang J, Yang F, Yang Z. Zhu D, et al. Neurogenetics. 2022 Jul;23(3):179-185. doi: 10.1007/s10048-022-00691-8. Epub 2022 Apr 7. Neurogenetics. 2022. PMID: 35391588
Adaptor-related protein complex 1 subunit sigma 2 (AP1S2) is a subunit of AP1 that is crucial for the reformation of the synaptic vesicle. ...This is the second case in the Chinese family and the eleventh variant found in AP1S2-related XLID. Our findings expand the …
Adaptor-related protein complex 1 subunit sigma 2 (AP1S2) is a subunit of AP1 that is crucial for the reformation of the synaptic ves …
Mechanism of miR-204-5p in exosomes derived from bronchoalveolar lavage fluid on the progression of pulmonary fibrosis via AP1S2.
Zhu L, Chen Y, Chen M, Wang W. Zhu L, et al. Ann Transl Med. 2021 Jul;9(13):1068. doi: 10.21037/atm-20-8033. Ann Transl Med. 2021. PMID: 34422980 Free PMC article.
The interaction between miR-204-5p and AP1S2 was determined by bioinformatics online software TargetScan and dual-luciferase reporter assay. ...CONCLUSIONS: Exosomal miR-204-5p from BALF inhibits autophagy to promote the progression of PF rats by targeting AP1S2....
The interaction between miR-204-5p and AP1S2 was determined by bioinformatics online software TargetScan and dual-luciferase reporter …
Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia.
Ballarati L, Cereda A, Caselli R, Maitz S, Russo S, Selicorni A, Larizza L, Giardino D. Ballarati L, et al. Eur J Med Genet. 2012 Feb;55(2):124-7. doi: 10.1016/j.ejmg.2011.12.001. Epub 2011 Dec 17. Eur J Med Genet. 2012. PMID: 22210230 Free article.
The deletion was inherited from the healthy mother. Point mutations of the AP1S2 gene have been identified in patients with X-linked mental retardation (XLMR). The clinical features of our patient are quite similar to those reported in male patients carrying point mutation …
The deletion was inherited from the healthy mother. Point mutations of the AP1S2 gene have been identified in patients with X-linked …
The EMT activator ZEB1 accelerates endosomal trafficking to establish a polarity axis in lung adenocarcinoma cells.
Banerjee P, Xiao GY, Tan X, Zheng VJ, Shi L, Rabassedas MNB, Guo HF, Liu X, Yu J, Diao L, Wang J, Russell WK, Roszik J, Creighton CJ, Kurie JM. Banerjee P, et al. Nat Commun. 2021 Nov 3;12(1):6354. doi: 10.1038/s41467-021-26677-y. Nat Commun. 2021. PMID: 34732702 Free PMC article.
ZEB1 relieves a plus-end-directed microtubule-dependent kinesin motor protein (KIF13A) and a clathrin-associated adaptor protein complex subunit (AP1S2) from microRNA-dependent silencing, thereby accelerating cargo transport through the endocytic recycling and retrograde v …
ZEB1 relieves a plus-end-directed microtubule-dependent kinesin motor protein (KIF13A) and a clathrin-associated adaptor protein complex sub …
Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome.
Borck G, Mollà-Herman A, Boddaert N, Encha-Razavi F, Philippe A, Robel L, Desguerre I, Brunelle F, Benmerah A, Munnich A, Colleaux L. Borck G, et al. Hum Mutat. 2008 Jul;29(7):966-74. doi: 10.1002/humu.20531. Hum Mutat. 2008. PMID: 18428203
Mutations in the AP1S2 gene, encoding the sigma1B subunit of the clathrin-associated adaptor protein complex (AP)-1, have been recently identified in five X-linked mental retardation (XLMR) families, including the original family with Fried syndrome. ...Moreover, computed …
Mutations in the AP1S2 gene, encoding the sigma1B subunit of the clathrin-associated adaptor protein complex (AP)-1, have been recent …
36 results