Germline AGO2 mutations impair RNA interference and human neurological development

Autor: Davor Lessel, Daniela M. Zeitler, Margot R. F. Reijnders, Andriy Kazantsev, Fatemeh Hassani Nia, Alexander Bartholomäus, Victoria Martens, Astrid Bruckmann, Veronika Graus, Allyn McConkie-Rosell, Marie McDonald, Bernarda Lozic, Ee-Shien Tan, Erica Gerkes, Jessika Johannsen, Jonas Denecke, Aida Telegrafi, Evelien Zonneveld-Huijssoon, Henny H. Lemmink, Breana W. M. Cham, Tanja Kovacevic, Linda Ramsdell, Kimberly Foss, Diana Le Duc, Diana Mitter, Steffen Syrbe, Andreas Merkenschlager, Margje Sinnema, Bianca Panis, Joanna Lazier, Matthew Osmond, Taila Hartley, Jeremie Mortreux, Tiffany Busa, Chantal Missirian, Pankaj Prasun, Sabine Lüttgen, Ilaria Mannucci, Ivana Lessel, Claudia Schob, Stefan Kindler, John Pappas, Rachel Rabin, Marjolein Willemsen, Thatjana Gardeitchik, Katharina Löhner, Patrick Rump, Kerith-Rae Dias, Carey-Anne Evans, Peter Ian Andrews, Tony Roscioli, Han G. Brunner, Chieko Chijiwa, M. E. Suzanne Lewis, Rami Abou Jamra, David A. Dyment, Kym M. Boycott, Alexander P. A. Stegmann, Christian Kubisch, Ene-Choo Tan, Ghayda M. Mirzaa, Kirsty McWalter, Tjitske Kleefstra, Rolph Pfundt, Zoya Ignatova, Gunter Meister, Hans-Jürgen Kreienkamp

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)

AGO2 binds to miRNAs to repress expression of cognate target mRNAs. Here the authors report that heterozygous AGO2 mutations result in defects in neurological development and impair RNA interference.

Externí odkaz: https://doaj.org/article/d67d1cc583c34e7f9e0a8f4ce72015a2

Germline AGO2 mutations impair RNA interference and human neurological development

Autor: Ee-Shien Tan, John Pappas, Tiffany Busa, Marjolein H. Willemsen, Erica H. Gerkes, Astrid Bruckmann, Linda Ramsdell, Davor Lessel, Chieko Chijiwa, Diana Mitter, Ghayda M. Mirzaa, Peter Ian Andrews, Daniela M. Zeitler, Claudia Schob, Pankaj Prasun, M. E. Suzanne Lewis, Rami Abou Jamra, Andriy Kazantsev, Aida Telegrafi, Steffen Syrbe, Chantal Missirian, Victoria Martens, Kimberly Foss, Margot R.F. Reijnders, Bianca Panis, Ilaria Mannucci, Bernarda Lozić, Fatemeh Hassani Nia, Rolph Pfundt, Tanja Kovacevic, Han G. Brunner, Christian Kubisch, Allyn McConkie-Rosell, Breana Cham, Gunter Meister, Jessika Johannsen, Veronika Graus, Henny H. Lemmink, Stefan Kindler, Jonas Denecke, Kirsty McWalter, Ivana Lessel, Zoya Ignatova, Hans-Jürgen Kreienkamp, Matthew Osmond, Thatjana Gardeitchik, Alexander P.A. Stegmann, Rachel Rabin, Alexander Bartholomäus, Jérémie Mortreux, Katharina Löhner, Tony Roscioli, Tjitske Kleefstra, Taila Hartley, Andreas Merkenschlager, Patrick Rump, Marie T. McDonald, Kym M. Boycott, Evelien Zonneveld-Huijssoon, David A. Dyment, Carey-Anne Evans, Margje Sinnema, Sabine Lüttgen, Joanna Lazier, Diana Le Duc, Kerith-Rae Dias, Ene-Choo Tan

Publikováno v: Nature Communications
Nature Communications, 11, 1
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
Nature Communications, 2020, 11 (1), ⟨10.1038/s41467-020-19572-5⟩
Nature Communications, 11(1):5797. Nature Publishing Group
Nature Communications, Nature Publishing Group, 2020, 11 (1), ⟨10.1038/s41467-020-19572-5⟩
Nature Communications, 11

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 functi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6907bcdfc843aa28a9b6cdd1abd3aac7
http://europepmc.org/articles/PMC7670403

Molecular profiling of stem cell-like female germ line cells in Drosophila delineates networks important for stemness and differentiation

Autor: Gunter Meister, Manu D. Tiwari, Andreas Wodarz, Daniela M. Zeitler

Publikováno v: Biology Open, Vol 8, Iss 11 (2019)

Stem cells can self-renew and also produce daughter cells destined for differentiation. The precise control of the balance between these two outcomes is essential to ensure tissue homeostasis and to prevent uncontrolled proliferation resulting in tum

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a9d850966d6cdd2d2c4ee2dd4fa4089
http://bio.biologists.org/content/8/11/bio046789

Site-Specific Labelling of Native Mammalian Proteins for Single-Molecule FRET Measurements

Autor: Alexander Gust, Philip Tinnefeld, Daniela M. Zeitler, Dina Grohmann, Leonhard Jakob, Kevin Kramm, Astrid Bruckmann, Gunter Meister, Sarah Willkomm

Publikováno v: Chembiochem : a European journal of chemical biology. 19(8)

Human cells are complex entities in which molecular recognition and selection are critical for cellular processes often driven by structural changes and dynamic interactions. Biomolecules appear in different chemical states, and modifications, such a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d492a4ffb7d5deef5b1889d6f7a441e
https://pubmed.ncbi.nlm.nih.gov/29394002