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2003 2
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76 results

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Page 1
Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes.
Schwartzentruber J, Cooper S, Liu JZ, Barrio-Hernandez I, Bello E, Kumasaka N, Young AMH, Franklin RJM, Johnson T, Estrada K, Gaffney DJ, Beltrao P, Bassett A. Schwartzentruber J, et al. Nat Genet. 2021 Mar;53(3):392-402. doi: 10.1038/s41588-020-00776-w. Epub 2021 Feb 15. Nat Genet. 2021. PMID: 33589840 Free PMC article.
Combining this information into a quantitative score, we found that evidence converged on likely causal genes, including the above four genes, and those at previously discovered AD loci, including BIN1, APH1B, PTK2B, PILRA and CASS4....
Combining this information into a quantitative score, we found that evidence converged on likely causal genes, including the above four gene …
Cell autonomous regulation of hippocampal circuitry via Aph1b-gamma-secretase/neuregulin 1 signalling.
Fazzari P, Snellinx A, Sabanov V, Ahmed T, Serneels L, Gartner A, Shariati SA, Balschun D, De Strooper B. Fazzari P, et al. Elife. 2014 Jun 2;3:e02196. doi: 10.7554/eLife.02196. Elife. 2014. PMID: 24891237 Free PMC article.
Here we show that the Aph1b-gamma-secretase is selectively involved in Nrg1 intracellular signalling. We found that Aph1b-deficient mice display a decrease in excitatory synaptic markers. ...
Here we show that the Aph1b-gamma-secretase is selectively involved in Nrg1 intracellular signalling. We found that Aph1b-defi …
Dysregulated expression levels of APH1B in peripheral blood are associated with brain atrophy and amyloid-beta deposition in Alzheimer's disease.
Park YH, Pyun JM, Hodges A, Jang JW, Bice PJ, Kim S, Saykin AJ, Nho K; AddNeuroMed consortium and the Alzheimer’s Disease Neuroimaging Initiative. Park YH, et al. Alzheimers Res Ther. 2021 Nov 3;13(1):183. doi: 10.1186/s13195-021-00919-z. Alzheimers Res Ther. 2021. PMID: 34732252 Free PMC article.
RESULTS: A cis-eQTL analysis identified and replicated significant associations in seven genes (APH1B, BIN1, FCER1G, GATS, MS4A6A, RABEP1, TRIM4). APH1B expression levels in the blood increased in AD and were associated with entorhinal cortical thickness and global …
RESULTS: A cis-eQTL analysis identified and replicated significant associations in seven genes (APH1B, BIN1, FCER1G, GATS, MS4A6A, RA …
Selective inhibitors of the PSEN1-gamma-secretase complex.
Serneels L, Narlawar R, Perez-Benito L, Municoy M, Guallar V, T'Syen D, Dewilde M, Bischoff F, Fraiponts E, Tresadern G, Roevens PWM, Gijsen HJM, De Strooper B. Serneels L, et al. J Biol Chem. 2023 Jun;299(6):104794. doi: 10.1016/j.jbc.2023.104794. Epub 2023 May 9. J Biol Chem. 2023. PMID: 37164155 Free PMC article.
Selective inhibition of specific gamma-secretase complexes, containing either PSEN1 or PSEN2 as the catalytic subunit and APH1A or APH1B as supporting subunits, does provide a feasible therapeutic window in preclinical models of these disorders. ...We synthesized a series …
Selective inhibition of specific gamma-secretase complexes, containing either PSEN1 or PSEN2 as the catalytic subunit and APH1A or APH1B …
Negative evidence for a role of APH1B T27I variant in Alzheimer's disease.
Zhang X, Zhang C, Prokopenko D, Liang Y, Han W, Tanzi RE, Sisodia SS. Zhang X, et al. Hum Mol Genet. 2020 Apr 15;29(6):955-966. doi: 10.1093/hmg/ddaa017. Hum Mol Genet. 2020. PMID: 31995180
In this regard, a large genetic meta-analysis of four cohorts consisting of more than 600 000 individuals identified a common missense variant, rs117618017 in the APH1B gene that results in a T27I mutation, as a novel genome-wide significant locus. ...
In this regard, a large genetic meta-analysis of four cohorts consisting of more than 600 000 individuals identified a common missense varia …
Deficiency of Aph1B/C-gamma-secretase disturbs Nrg1 cleavage and sensorimotor gating that can be reversed with antipsychotic treatment.
Dejaegere T, Serneels L, Schäfer MK, Van Biervliet J, Horré K, Depboylu C, Alvarez-Fischer D, Herreman A, Willem M, Haass C, Höglinger GU, D'Hooge R, De Strooper B. Dejaegere T, et al. Proc Natl Acad Sci U S A. 2008 Jul 15;105(28):9775-80. doi: 10.1073/pnas.0800507105. Epub 2008 Jul 14. Proc Natl Acad Sci U S A. 2008. PMID: 18626010 Free PMC article.
Previous work has demonstrated the involvement of the Aph1A-gamma-secretase complex in Notch signaling, but no specific function could be assigned to Aph1B/C-gamma-secretase. We demonstrate here that the Aph1B/C-gamma-secretase complex is expressed in brain areas re …
Previous work has demonstrated the involvement of the Aph1A-gamma-secretase complex in Notch signaling, but no specific function could be as …
Antagonistic Effects of BACE1 and APH1B-gamma-Secretase Control Axonal Guidance by Regulating Growth Cone Collapse.
Barão S, Gärtner A, Leyva-Díaz E, Demyanenko G, Munck S, Vanhoutvin T, Zhou L, Schachner M, López-Bendito G, Maness PF, De Strooper B. Barão S, et al. Cell Rep. 2015 Sep 1;12(9):1367-76. doi: 10.1016/j.celrep.2015.07.059. Epub 2015 Aug 20. Cell Rep. 2015. PMID: 26299962 Free PMC article.
This fragment relays the Sema3A signal via ezrin-radixin-moesin (ERM) proteins to the neuronal cytoskeleton. APH1B-gamma-secretase-mediated degradation of this fragment stops the Sema3A-induced collapse and sensitizes the growth cone for the next axonal guidance cue. ...
This fragment relays the Sema3A signal via ezrin-radixin-moesin (ERM) proteins to the neuronal cytoskeleton. APH1B-gamma-secretase-me …
High-Risk Human Papillomavirus E7 Maintains Stemness Via APH1B In Cervical Cancer Stem-Cell Like Cells.
Yang S, Chen T, Huang L, Xu S, Cao Z, Zhang S, Xu J, Li Y, Yue Y, Lu W, Cheng X, Xie X. Yang S, et al. Cancer Manag Res. 2019 Nov 12;11:9541-9552. doi: 10.2147/CMAR.S194239. eCollection 2019. Cancer Manag Res. 2019. PMID: 31814758 Free PMC article.
The stem-like properties were deprived when HPV16 E7 was knocked down in SiHa sphere cells and maintained when HPV16 E7 was over-expressed in U2OS sphere cells. APH1B was up-regulated, among differential expression genes, in SiHa cells with HPV16 E7 knockdown and modulated …
The stem-like properties were deprived when HPV16 E7 was knocked down in SiHa sphere cells and maintained when HPV16 E7 was over-expressed i …
Deletion of the gamma-secretase subunits Aph1B/C impairs memory and worsens the deficits of knock-in mice modeling the Alzheimer-like familial Danish dementia.
Biundo F, Ishiwari K, Del Prete D, D'Adamio L. Biundo F, et al. Oncotarget. 2016 Mar 15;7(11):11923-44. doi: 10.18632/oncotarget.7389. Oncotarget. 2016. PMID: 26942869 Free PMC article.
Accumulation of a carboxyl-terminal APP metabolite -ss-CTF- causes memory deficits in a knock-in mouse model of FDD, called FDDKI.We have investigated further the pathogenic function of ss-CTF studying the effect of Aph1B/C deletion on FDDKI mice. This strategy is based on …
Accumulation of a carboxyl-terminal APP metabolite -ss-CTF- causes memory deficits in a knock-in mouse model of FDD, called FDDKI.We have in …
76 results