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201 results

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Page 1
PPP3CA gene-related developmental and epileptic encephalopathy: Expanding the electro-clinical phenotype.
Favaro J, Iodice A, Nosadini M, Asta F, Toldo I, Ancona C, Cavaliere E, Pelizza MF, Casara G, Parmeggiani L, Sartori S. Favaro J, et al. Seizure. 2024 Oct;121:253-261. doi: 10.1016/j.seizure.2024.08.017. Epub 2024 Aug 24. Seizure. 2024. PMID: 39305655 Free article. Review.
PURPOSE: The objective of this study is to characterize the electro-clinical phenotype of individuals affected by the rare PPP3CA gene-related developmental and epileptic encephalopathy (DEE). METHODS: We provide a detailed electro-clinical description of four previously u …
PURPOSE: The objective of this study is to characterize the electro-clinical phenotype of individuals affected by the rare PPP3CA gen …
Calcineurin.
Creamer TP. Creamer TP. Cell Commun Signal. 2020 Aug 28;18(1):137. doi: 10.1186/s12964-020-00636-4. Cell Commun Signal. 2020. PMID: 32859215 Free PMC article. Review.
Protein phosphatase PPP3CA (calcineurin A) down-regulates hypoxia-inducible factor transcriptional activity.
Karagiota A, Mylonis I, Simos G, Chachami G. Karagiota A, et al. Arch Biochem Biophys. 2019 Mar 30;664:174-182. doi: 10.1016/j.abb.2019.02.007. Epub 2019 Feb 15. Arch Biochem Biophys. 2019. PMID: 30776328
These results were phenocopied by treatment with the ionophore ionomycin, that activates endogenous PPP3CA. The effect of ionomycin was mediated by PPP3CA as it was largely abolished by PPP3CA silencing. Furthermore, ionomycin enhanced the down-regulation of …
These results were phenocopied by treatment with the ionophore ionomycin, that activates endogenous PPP3CA. The effect of ionomycin w …
Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter.
Castiglioni S, Pezzoli L, Pezzani L, Lettieri A, Di Fede E, Cereda A, Ancona S, Gallina A, Colombo EA, Parodi C, Grazioli P, Taci E, Milani D, Iascone M, Massa V, Gervasini C. Castiglioni S, et al. Orphanet J Rare Dis. 2024 Dec 20;19(1):481. doi: 10.1186/s13023-024-03507-0. Orphanet J Rare Dis. 2024. PMID: 39707491 Free PMC article.
PPP3CA is ubiquitously expressed with tissue-specificity of; namely, splicing isoform 1 prevailing over isoform 2 in the central nervous system. ...CONCLUSION: data suggest that an aberrant PPP3CA protein in Pt.1 could lead to UPR activation resulting in increased c …
PPP3CA is ubiquitously expressed with tissue-specificity of; namely, splicing isoform 1 prevailing over isoform 2 in the central nerv …
PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.
Panneerselvam S, Wang J, Zhu W, Dai H, Pappas JG, Rabin R, Low KJ, Rosenfeld JA, Emrick L, Xiao R, Xia F, Yang Y, Eng CM, Anderson A, Chau V, Soler-Alfonso C, Streff H, Lalani SR, Mercimek-Andrews S; Undiagnosed Diseases Network; DDD Study; Bi W. Panneerselvam S, et al. Clin Genet. 2021 Aug;100(2):227-233. doi: 10.1111/cge.13979. Epub 2021 Jun 1. Clin Genet. 2021. PMID: 33963760 Free PMC article.
PPP3CA encodes the catalytic subunit of calcineurin, a calcium-calmodulin-regulated serine-threonine phosphatase. ...We herein report five new patients with de novo PPP3CA variants. Interestingly, the two frameshift variants in this study and the six truncating vari …
PPP3CA encodes the catalytic subunit of calcineurin, a calcium-calmodulin-regulated serine-threonine phosphatase. ...We herein report …
OR2T6 modulates autophagy through the PPP3CA-mediated pathways to suppress gastric cancer.
Yan L, Zhu W, Wang M, Zhao R, Zhang G, Guo X, Li C, Wang S, Zhang H, Gao P. Yan L, et al. Cell Death Differ. 2026 Apr;33(4):831-846. doi: 10.1038/s41418-025-01611-7. Epub 2025 Nov 10. Cell Death Differ. 2026. PMID: 41214150
Mechanistically, co-immunoprecipitation (Co-IP) and mass spectrometry (MS) analyses reveal that OR2T6 specifically binds to PPP3CA. OR2T6 facilitates the protein stability and enzyme activity of PPP3CA through the ubiquitin-proteasome system and the promotion of cal …
Mechanistically, co-immunoprecipitation (Co-IP) and mass spectrometry (MS) analyses reveal that OR2T6 specifically binds to PPP3CA. O …
[PPP3CA silence regulates MET process, cell apoptosis, proliferation and migration in metanephric mesenchyme cells].
Gu Y, Chen L, Li Q. Gu Y, et al. Sheng Wu Gong Cheng Xue Bao. 2020 Oct 25;36(10):2151-2161. doi: 10.13345/j.cjb.200109. Sheng Wu Gong Cheng Xue Bao. 2020. PMID: 33169579 Free article. Chinese.
Thus, PPP3CA was silenced in mK4 cells and PPP3CA deficiency promoted E-cadherin expression, cell apoptosis. Moreover, PPP3CA knock down attenuated cell proliferation and cell migration in mK4 cell. The underlying mechanism was associated with the dephosphory …
Thus, PPP3CA was silenced in mK4 cells and PPP3CA deficiency promoted E-cadherin expression, cell apoptosis. Moreover, PPP3 …
CAMTA1-PPP3CA-NFATc4 multi-protein complex mediates the resistance of colorectal cancer to oxaliplatin.
Pan R, Zhang Z, Jia H, Ma J, Wu C, Xue P, Cai W, Zhang X, Sun J. Pan R, et al. Cell Death Discov. 2022 Mar 24;8(1):129. doi: 10.1038/s41420-022-00912-x. Cell Death Discov. 2022. PMID: 35332122 Free PMC article.
In addition, we show that protein phosphatase 3 catalytic subunit alpha (PPP3CA) is essential for the expression and phosphorylation of NFATc4 caused by Camta1 knockdown, as well as the proliferation, invasion, and chemoresistance of colorectal cancer cells. We show that …
In addition, we show that protein phosphatase 3 catalytic subunit alpha (PPP3CA) is essential for the expression and phosphorylation …
Postsynaptic competition between calcineurin and PKA regulates mammalian sleep-wake cycles.
Wang Y, Cao S, Tone D, Fujishima H, Yamada RG, Ohno RI, Shi S, Matsuzawa K, Yada S, Kaneko M, Sakamoto H, Onishi T, Ukai-Tadenuma M, Ukai H, Hanashima C, Hirose K, Kiyonari H, Sumiyama K, Ode KL, Ueda HR. Wang Y, et al. Nature. 2024 Dec;636(8042):412-421. doi: 10.1038/s41586-024-08132-2. Epub 2024 Nov 6. Nature. 2024. PMID: 39506111
We identify a regulatory subunit of PKA (Prkar2b), a regulatory subunit of protein phosphatase 1 (PP1; Pppr1r9b) and catalytic and regulatory subunits of calcineurin (also known as PP2B) (Ppp3ca and Ppp3r1) as sleep control genes. Using adeno-associated virus (AAV)-mediate …
We identify a regulatory subunit of PKA (Prkar2b), a regulatory subunit of protein phosphatase 1 (PP1; Pppr1r9b) and catalytic and regulator …
Distinct patterns of somatic genome alterations in lung adenocarcinomas and squamous cell carcinomas.
Campbell JD, Alexandrov A, Kim J, Wala J, Berger AH, Pedamallu CS, Shukla SA, Guo G, Brooks AN, Murray BA, Imielinski M, Hu X, Ling S, Akbani R, Rosenberg M, Cibulskis C, Ramachandran A, Collisson EA, Kwiatkowski DJ, Lawrence MS, Weinstein JN, Verhaak RG, Wu CJ, Hammerman PS, Cherniack AD, Getz G; Cancer Genome Atlas Research Network; Artyomov MN, Schreiber R, Govindan R, Meyerson M. Campbell JD, et al. Nat Genet. 2016 Jun;48(6):607-16. doi: 10.1038/ng.3564. Epub 2016 May 9. Nat Genet. 2016. PMID: 27158780 Free PMC article.
New significantly mutated genes included PPP3CA, DOT1L, and FTSJD1 in lung ADC, RASA1 in lung SqCC, and KLF5, EP300, and CREBBP in both tumor types. ...
New significantly mutated genes included PPP3CA, DOT1L, and FTSJD1 in lung ADC, RASA1 in lung SqCC, and KLF5, EP300, and CREBBP in bo …
201 results