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The Parkinson's-disease-associated mutation LRRK2-G2019S alters dopaminergic differentiation dynamics via NR2F1.
Walter J, Bolognin S, Poovathingal SK, Magni S, Gérard D, Antony PMA, Nickels SL, Salamanca L, Berger E, Smits LM, Grzyb K, Perfeito R, Hoel F, Qing X, Ohnmacht J, Bertacchi M, Jarazo J, Ignac T, Monzel AS, Gonzalez-Cano L, Krüger R, Sauter T, Studer M, de Almeida LP, Tronstad KJ, Sinkkonen L, Skupin A, Schwamborn JC. Walter J, et al. Among authors: bertacchi m. Cell Rep. 2021 Oct 19;37(3):109864. doi: 10.1016/j.celrep.2021.109864. Cell Rep. 2021. PMID: 34686322 Free article.
Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.
Jurkute N, Bertacchi M, Arno G, Tocco C, Kim US, Kruszewski AM, Avery RA, Bedoukian EC, Han J, Ahn SJ, Pontikos N, Acheson J, Davagnanam I, Bowman R, Kaliakatsos M, Gardham A, Wakeling E, Oluonye N, Reddy MA, Clark E, Rosser E, Amati-Bonneau P, Charif M, Lenaers G, Meunier I, Defoort S, Vincent-Delorme C, Robson AG, Holder GE, Jeanjean L, Martinez-Monseny A, Vidal-Santacana M, Dominici C, Gaggioli C, Giordano N, Caleo M, Liu GT; Genomics England Research Consortium; Webster AR, Studer M, Yu-Wai-Man P. Jurkute N, et al. Among authors: bertacchi m. Brain Commun. 2021 Jul 20;3(3):fcab162. doi: 10.1093/braincomms/fcab162. eCollection 2021. Brain Commun. 2021. PMID: 34466801 Free PMC article.
NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients.
Bertacchi M, Romano AL, Loubat A, Tran Mau-Them F, Willems M, Faivre L, Khau van Kien P, Perrin L, Devillard F, Sorlin A, Kuentz P, Philippe C, Garde A, Neri F, Di Giaimo R, Oliviero S, Cappello S, D'Incerti L, Frassoni C, Studer M. Bertacchi M, et al. EMBO J. 2020 Jul 1;39(13):e104163. doi: 10.15252/embj.2019104163. Epub 2020 Jun 2. EMBO J. 2020. PMID: 32484994 Free PMC article.
26 results