Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression-Reference-Cited by-同舟云学术

Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression

Published:2018-09-25 Issue:1 Volume:27 Page:61-69
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Rydzanicz Małgorzata,Wachowska Małgorzata,Cook Erik C.,Lisowski Paweł,Kuźniewska Bożena^ORCID,Szymańska Krystyna,Diecke Sebastian,Prigione Alessandro^ORCID,Szczałuba Krzysztof^ORCID,Szybińska Aleksandra,Koppolu Agnieszka,Murcia Pienkowski Victor,Kosińska Joanna,Wiweger Małgorzata,Kostrzewa Grażyna,Brzozowska Małgorzata,Domańska-Pakieła Dorota,Jurkiewicz Elżbieta,Stawiński Piotr,Gromadka Agnieszka,Zielenkiewicz Piotr^ORCID,Demkow Urszula,Dziembowska Magdalena,Kuźnicki Jacek,Creamer Trevor P.^ORCID,Płoski Rafał

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-018-0254-8.pdf

Reference24 articles.

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2. Wen Y, Fu P, Wu K, Si K, Xie Y, Dan W, et al. Inhibition of Calcineurin A by FK506 Suppresses Seizures and Reduces the Expression of GluN2B in Membrane Fraction. Neurochem Res. 2017;42: 2154–66

3. Eckel R, Szulc B, Walker MC, Kittler JT. Activation of calcineurin underlies altered trafficking of alpha2 subunit containing GABAA receptors during prolonged epileptiform activity. Neuropharmacology. 2015;88:82–90.

4. Freire-Cobo C, Sierra-Paredes G, Freire M, Sierra-Marcuno G. The calcineurin inhibitor Ascomicin interferes with the early stage of the epileptogenic process induced by Latrunculin A microperfusion in rat hippocampus. J Neuroimmune Pharmacol. 2014;9:654–67.

5. Sierra-Paredes G, Sierra-Marcuno G. Ascomycin and FK506: pharmacology and therapeutic potential as anticonvulsants and neuroprotectants. CNS Neurosci Ther. 2008;14:36–46.

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