Germline AGO2 mutations impair RNA interference and human neurological development

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.

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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/d67d1cc583c34e7f9e0a8f4ce72015a2
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spelling	oai:doaj.org-article:d67d1cc583c34e7f9e0a8f4ce72015a22021-12-02T16:49:43ZGermline AGO2 mutations impair RNA interference and human neurological development10.1038/s41467-020-19572-52041-1723https://doaj.org/article/d67d1cc583c34e7f9e0a8f4ce72015a22020-11-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-19572-5https://doaj.org/toc/2041-1723AGO2 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.Davor LesselDaniela M. ZeitlerMargot R. F. ReijndersAndriy KazantsevFatemeh Hassani NiaAlexander BartholomäusVictoria MartensAstrid BruckmannVeronika GrausAllyn McConkie-RosellMarie McDonaldBernarda LozicEe-Shien TanErica GerkesJessika JohannsenJonas DeneckeAida TelegrafiEvelien Zonneveld-HuijssoonHenny H. LemminkBreana W. M. ChamTanja KovacevicLinda RamsdellKimberly FossDiana Le DucDiana MitterSteffen SyrbeAndreas MerkenschlagerMargje SinnemaBianca PanisJoanna LazierMatthew OsmondTaila HartleyJeremie MortreuxTiffany BusaChantal MissirianPankaj PrasunSabine LüttgenIlaria MannucciIvana LesselClaudia SchobStefan KindlerJohn PappasRachel RabinMarjolein WillemsenThatjana GardeitchikKatharina LöhnerPatrick RumpKerith-Rae DiasCarey-Anne EvansPeter Ian AndrewsTony RoscioliHan G. BrunnerChieko ChijiwaM. E. Suzanne LewisRami Abou JamraDavid A. DymentKym M. BoycottAlexander P. A. StegmannChristian KubischEne-Choo TanGhayda M. MirzaaKirsty McWalterTjitske KleefstraRolph PfundtZoya IgnatovaGunter MeisterHans-Jürgen KreienkampNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 Germline AGO2 mutations impair RNA interference and human neurological development
description	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.
format	article
author	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
author_facet	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
author_sort	Davor Lessel
title	Germline AGO2 mutations impair RNA interference and human neurological development
title_short	Germline AGO2 mutations impair RNA interference and human neurological development
title_full	Germline AGO2 mutations impair RNA interference and human neurological development
title_fullStr	Germline AGO2 mutations impair RNA interference and human neurological development
title_full_unstemmed	Germline AGO2 mutations impair RNA interference and human neurological development
title_sort	germline ago2 mutations impair rna interference and human neurological development
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/d67d1cc583c34e7f9e0a8f4ce72015a2
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Germline AGO2 mutations impair RNA interference and human neurological development

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