Article
Germline AGO2 mutations impair RNA interference and human neurological development.
Nature communications - 16 Nov 2020
Lessel Davor, Zeitler Daniela M, Reijnders Margot R F, Kazantsev Andriy, Hassani Nia Fatemeh, Bartholomäus Alexander, Martens Victoria, Bruckmann Astrid, Graus Veronika, McConkie-Rosell Allyn, McDonald Marie, Lozic Bernarda, Tan Ee-Shien, Gerkes Erica, Johannsen Jessika, Denecke Jonas, Telegrafi Aida, Zonneveld-Huijssoon Evelien, Lemmink Henny H, Cham Breana W M, Kovacevic Tanja, Ramsdell Linda, Foss Kimberly, Le Duc Diana, Mitter Diana, Syrbe Steffen, Merkenschlager Andreas, Sinnema Margje, Panis Bianca, Lazier Joanna, Osmond Matthew, Hartley Taila, Mortreux Jeremie, Busa Tiffany, Missirian Chantal, Prasun Pankaj, Lüttgen Sabine, Mannucci Ilaria, Lessel Ivana, Schob Claudia, Kindler Stefan, Pappas John, Rabin Rachel, Willemsen Marjolein, Gardeitchik Thatjana, Löhner Katharina, Rump Patrick, Dias Kerith-Rae, Evans Carey-Anne, Andrews Peter Ian, Roscioli Tony, Brunner Han G, Chijiwa Chieko, Lewis M E Suzanne, Jamra Rami Abou, Dyment David A, Boycott Kym M, Stegmann Alexander P A, Kubisch Christian, Tan Ene-Choo, Mirzaa Ghayda M, McWalter Kirsty, Kleefstra Tjitske, Pfundt Rolph, Ignatova Zoya, Meister Gunter, Kreienkamp Hans-Jürgen
Abstract excerpt
ARGONAUTE-2 and associated miRNAs form the RNA-induced silencing complex (RISC), which targets mRNAs for translational silencing and degradation as part of the RNA interference pathway. Despite the essential nature of this process for cellular function, there is little information on the role of RISC components in human development and organ function. We identify 13 heterozygous mutations in AGO2 in 21 patients...
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