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The H50Q mutation enhances α-synuclein aggregation, secretion, and toxicity.
Khalaf O, Fauvet B, Oueslati A, Dikiy I, Mahul-Mellier AL, Ruggeri FS, Mbefo MK, Vercruysse F, Dietler G, Lee SJ, Eliezer D, Lashuel HA. Khalaf O, et al. Among authors: mbefo mk. J Biol Chem. 2014 Aug 8;289(32):21856-76. doi: 10.1074/jbc.M114.553297. Epub 2014 Jun 16. J Biol Chem. 2014. PMID: 24936070 Free PMC article.
Phosphorylation of synucleins by members of the Polo-like kinase family.
Mbefo MK, Paleologou KE, Boucharaba A, Oueslati A, Schell H, Fournier M, Olschewski D, Yin G, Zweckstetter M, Masliah E, Kahle PJ, Hirling H, Lashuel HA. Mbefo MK, et al. J Biol Chem. 2010 Jan 22;285(4):2807-22. doi: 10.1074/jbc.M109.081950. Epub 2009 Nov 4. J Biol Chem. 2010. PMID: 19889641 Free PMC article.
Enhancer of Zeste Homolog 2 (EZH2) Contributes to Rod Photoreceptor Death Process in Several Forms of Retinal Degeneration and Its Activity Can Serve as a Biomarker for Therapy Efficacy.
Mbefo M, Berger A, Schouwey K, Gérard X, Kostic C, Beryozkin A, Sharon D, Dolfuss H, Munier F, Tran HV, van Lohuizen M, Beltran WA, Arsenijevic Y. Mbefo M, et al. Int J Mol Sci. 2021 Aug 28;22(17):9331. doi: 10.3390/ijms22179331. Int J Mol Sci. 2021. PMID: 34502238 Free PMC article.
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
Nikopoulos K, Farinelli P, Giangreco B, Tsika C, Royer-Bertrand B, Mbefo MK, Bedoni N, Kjellström U, El Zaoui I, Di Gioia SA, Balzano S, Cisarova K, Messina A, Decembrini S, Plainis S, Blazaki SV, Khan MI, Micheal S, Boldt K, Ueffing M, Moulin AP, Cremers FPM, Roepman R, Arsenijevic Y, Tsilimbaris MK, Andréasson S, Rivolta C. Nikopoulos K, et al. Among authors: mbefo mk. Am J Hum Genet. 2016 Sep 1;99(3):770-776. doi: 10.1016/j.ajhg.2016.07.009. Am J Hum Genet. 2016. PMID: 27588451 Free PMC article.
α-Synuclein in central nervous system and from erythrocytes, mammalian cells, and Escherichia coli exists predominantly as disordered monomer.
Fauvet B, Mbefo MK, Fares MB, Desobry C, Michael S, Ardah MT, Tsika E, Coune P, Prudent M, Lion N, Eliezer D, Moore DJ, Schneider B, Aebischer P, El-Agnaf OM, Masliah E, Lashuel HA. Fauvet B, et al. Among authors: mbefo mk. J Biol Chem. 2012 May 4;287(19):15345-64. doi: 10.1074/jbc.M111.318949. Epub 2012 Feb 7. J Biol Chem. 2012. PMID: 22315227 Free PMC article.
The novel Parkinson's disease linked mutation G51D attenuates in vitro aggregation and membrane binding of α-synuclein, and enhances its secretion and nuclear localization in cells.
Fares MB, Ait-Bouziad N, Dikiy I, Mbefo MK, Jovičić A, Kiely A, Holton JL, Lee SJ, Gitler AD, Eliezer D, Lashuel HA. Fares MB, et al. Among authors: mbefo mk. Hum Mol Genet. 2014 Sep 1;23(17):4491-509. doi: 10.1093/hmg/ddu165. Epub 2014 Apr 11. Hum Mol Genet. 2014. PMID: 24728187 Free PMC article.