Germline AGO2 mutations impair RNA interference and human neurological development

Lessel, D; Zeitler, DM; Reijnders, MRF; Kazantsev, A; Nia, FH; Bartholomaus, A; Martens, V; Bruckmann, A; Graus, V; McConkie-Rosell, A; McDonald, M; Lozic, B; Tan, ES; Gerkes, E; Johannsen, J; Denecke, J; Telegrafi, A; Zonneveld-Huijssoon, E; Lemmink, HH; Cham, BWM; Kovacevic, T; Ramsdell, L; Foss, K; Le Duc, D; Mitter, D; Syrbe, S; Merkenschlager, A; Sinnema, M; Panis, B; Lazier, J; Osmond, M; Hartley, T; Mortreux, J; Busa, T; Missirian, C; Prasun, P; Luttgen, S; Mannucci, I; Lessel, I; Schob, C; Kindler, S; Pappas, J; Rabin, R; Willemsen, M; Gardeitchik, T; Lohner, K; Rump, P; Dias, KR; Evans, CA; Andrews, PI; Roscioli, T; Brunner, HG; Chijiwa, C; Lewis, MES; Abou Jamra, R; Dyment, DA; Boycott, KM; Stegmann, APA; Kubisch, C; Tan, EC; Mirzaa, GM; McWalter, K; Kleefstra, T; Pfundt, R; Ignatova, Z; Meister, G; Kreienkamp, HJ

Lessel, D; Kreienkamp, HJ (corresponding author), Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany.

NATURE COMMUNICATIONS, 2020; 11 (1):

Abstract

ARGONAUTE-2 and associated miRNAs form the RNA-induced silencing complex (RISC), which targets mRNAs for translational silencing and degradation as pa......

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