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AMBRA1 links autophagy to cell proliferation and tumorigenesis by promoting c-Myc dephosphorylation and degradation.
Cianfanelli V, Fuoco C, Lorente M, Salazar M, Quondamatteo F, Gherardini PF, De Zio D, Nazio F, Antonioli M, D'Orazio M, Skobo T, Bordi M, Rohde M, Dalla Valle L, Helmer-Citterich M, Gretzmeier C, Dengjel J, Fimia GM, Piacentini M, Di Bartolomeo S, Velasco G, Cecconi F. Cianfanelli V, et al. Nat Cell Biol. 2015 Jan;17(1):20-30. doi: 10.1038/ncb3072. Epub 2014 Dec 1. Nat Cell Biol. 2015. PMID: 25438055 Free PMC article.
AMBRA1 Controls Regulatory T-Cell Differentiation and Homeostasis Upstream of the FOXO3-FOXP3 Axis.
Becher J, Simula L, Volpe E, Procaccini C, La Rocca C, D'Acunzo P, Cianfanelli V, Strappazzon F, Caruana I, Nazio F, Weber G, Gigantino V, Botti G, Ciccosanti F, Borsellino G, Campello S, Mandolesi G, De Bardi M, Fimia GM, D'Amelio M, Ruffini F, Furlan R, Centonze D, Martino G, Braghetta P, Chrisam M, Bonaldo P, Matarese G, Locatelli F, Battistini L, Cecconi F. Becher J, et al. Dev Cell. 2018 Dec 3;47(5):592-607.e6. doi: 10.1016/j.devcel.2018.11.010. Dev Cell. 2018. PMID: 30513302 Free article.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Reynhout S, Jansen S, Haesen D, van Belle S, de Munnik SA, Bongers EMHF, Schieving JH, Marcelis C, Amiel J, Rio M, Mclaughlin H, Ladda R, Sell S, Kriek M, Peeters-Scholte CMPCD, Terhal PA, van Gassen KL, Verbeek N, Henry S, Scott Schwoerer J, Malik S, Revencu N, Ferreira CR, Macnamara E, Braakman HMH, Brimble E, Ruzhnikov MRZ, Wagner M, Harrer P, Wieczorek D, Kuechler A, Tziperman B, Barel O, de Vries BBA, Gordon CT, Janssens V, Vissers LELM. Reynhout S, et al. Am J Hum Genet. 2019 Jan 3;104(1):139-156. doi: 10.1016/j.ajhg.2018.12.002. Epub 2018 Dec 27. Am J Hum Genet. 2019. PMID: 30595372 Free PMC article.