Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

GEMIN5, an RNA-binding protein, is required for formation of small nuclear ribonucleoproteins. Here, the authors identify loss of function mutations in GEMIN5 that are associated with a human neurodevelopmental disorder.

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Autores principales:	Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S. Stolerman, Sarah S. Barnett, Margot A. Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H. Nemeth, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K. Selmer, Roser Urreizti, Alberto Garcia-Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah R. McCurry, John E. Landers, Sameer Agnihotri, E. Corina Andriescu, Shade B. Moody, Chanika Phornphutkul, Maria J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik-Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/89c11aed01764fe28b3d252a2c5bccf7
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spelling	oai:doaj.org-article:89c11aed01764fe28b3d252a2c5bccf72021-12-02T14:29:01ZLoss of function mutations in GEMIN5 cause a neurodevelopmental disorder10.1038/s41467-021-22627-w2041-1723https://doaj.org/article/89c11aed01764fe28b3d252a2c5bccf72021-05-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-22627-whttps://doaj.org/toc/2041-1723GEMIN5, an RNA-binding protein, is required for formation of small nuclear ribonucleoproteins. Here, the authors identify loss of function mutations in GEMIN5 that are associated with a human neurodevelopmental disorder.Sukhleen KourDeepa S. RajanTyler R. FortunaEric N. AndersonCaroline WardYoungha LeeSangmoon LeeYong Beom ShinJong-Hee ChaeMurim ChoiKarine SiquierVincent CantagrelJeanne AmielElliot S. StolermanSarah S. BarnettMargot A. CousinDiana CastroKimberly McDonaldBrian KirmseAndrea H. NemethDhivyaa RajasundaramA. Micheil InnesDanielle LynchPatrick FroskAbigail CollinsMelissa GibbonsMichele YangIsabelle DesguerreNathalie BoddaertCyril GitiauxSiri Lynne RydningKaja K. SelmerRoser UrreiztiAlberto Garcia-OguizaAndrés Nascimento OsorioEdgard VerduraAurora PujolHannah R. McCurryJohn E. LandersSameer AgnihotriE. Corina AndriescuShade B. MoodyChanika PhornphutkulMaria J. Guillen SacotoAmber BegtrupHenry HouldenJanbernd KirschnerDavid SchorlingSabine Rudnik-SchönebornTim M. StromSteffen LeizKali JulietteRandal RichardsonYing YangYuehua ZhangMinghui WangJia WangXiaodong WangKonrad PlatzerSandra DonkervoortCarsten G. BönnemannMatias WagnerMahmoud Y. IssaHasnaa M. ElbendaryValentina StanleyReza MaroofianJoseph G. GleesonMaha S. ZakiJan SenderekUdai Bhan PandeyNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Sukhleen Kour Deepa S. Rajan Tyler R. Fortuna Eric N. Anderson Caroline Ward Youngha Lee Sangmoon Lee Yong Beom Shin Jong-Hee Chae Murim Choi Karine Siquier Vincent Cantagrel Jeanne Amiel Elliot S. Stolerman Sarah S. Barnett Margot A. Cousin Diana Castro Kimberly McDonald Brian Kirmse Andrea H. Nemeth Dhivyaa Rajasundaram A. Micheil Innes Danielle Lynch Patrick Frosk Abigail Collins Melissa Gibbons Michele Yang Isabelle Desguerre Nathalie Boddaert Cyril Gitiaux Siri Lynne Rydning Kaja K. Selmer Roser Urreizti Alberto Garcia-Oguiza Andrés Nascimento Osorio Edgard Verdura Aurora Pujol Hannah R. McCurry John E. Landers Sameer Agnihotri E. Corina Andriescu Shade B. Moody Chanika Phornphutkul Maria J. Guillen Sacoto Amber Begtrup Henry Houlden Janbernd Kirschner David Schorling Sabine Rudnik-Schöneborn Tim M. Strom Steffen Leiz Kali Juliette Randal Richardson Ying Yang Yuehua Zhang Minghui Wang Jia Wang Xiaodong Wang Konrad Platzer Sandra Donkervoort Carsten G. Bönnemann Matias Wagner Mahmoud Y. Issa Hasnaa M. Elbendary Valentina Stanley Reza Maroofian Joseph G. Gleeson Maha S. Zaki Jan Senderek Udai Bhan Pandey Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
description	GEMIN5, an RNA-binding protein, is required for formation of small nuclear ribonucleoproteins. Here, the authors identify loss of function mutations in GEMIN5 that are associated with a human neurodevelopmental disorder.
format	article
author	Sukhleen Kour Deepa S. Rajan Tyler R. Fortuna Eric N. Anderson Caroline Ward Youngha Lee Sangmoon Lee Yong Beom Shin Jong-Hee Chae Murim Choi Karine Siquier Vincent Cantagrel Jeanne Amiel Elliot S. Stolerman Sarah S. Barnett Margot A. Cousin Diana Castro Kimberly McDonald Brian Kirmse Andrea H. Nemeth Dhivyaa Rajasundaram A. Micheil Innes Danielle Lynch Patrick Frosk Abigail Collins Melissa Gibbons Michele Yang Isabelle Desguerre Nathalie Boddaert Cyril Gitiaux Siri Lynne Rydning Kaja K. Selmer Roser Urreizti Alberto Garcia-Oguiza Andrés Nascimento Osorio Edgard Verdura Aurora Pujol Hannah R. McCurry John E. Landers Sameer Agnihotri E. Corina Andriescu Shade B. Moody Chanika Phornphutkul Maria J. Guillen Sacoto Amber Begtrup Henry Houlden Janbernd Kirschner David Schorling Sabine Rudnik-Schöneborn Tim M. Strom Steffen Leiz Kali Juliette Randal Richardson Ying Yang Yuehua Zhang Minghui Wang Jia Wang Xiaodong Wang Konrad Platzer Sandra Donkervoort Carsten G. Bönnemann Matias Wagner Mahmoud Y. Issa Hasnaa M. Elbendary Valentina Stanley Reza Maroofian Joseph G. Gleeson Maha S. Zaki Jan Senderek Udai Bhan Pandey
author_facet	Sukhleen Kour Deepa S. Rajan Tyler R. Fortuna Eric N. Anderson Caroline Ward Youngha Lee Sangmoon Lee Yong Beom Shin Jong-Hee Chae Murim Choi Karine Siquier Vincent Cantagrel Jeanne Amiel Elliot S. Stolerman Sarah S. Barnett Margot A. Cousin Diana Castro Kimberly McDonald Brian Kirmse Andrea H. Nemeth Dhivyaa Rajasundaram A. Micheil Innes Danielle Lynch Patrick Frosk Abigail Collins Melissa Gibbons Michele Yang Isabelle Desguerre Nathalie Boddaert Cyril Gitiaux Siri Lynne Rydning Kaja K. Selmer Roser Urreizti Alberto Garcia-Oguiza Andrés Nascimento Osorio Edgard Verdura Aurora Pujol Hannah R. McCurry John E. Landers Sameer Agnihotri E. Corina Andriescu Shade B. Moody Chanika Phornphutkul Maria J. Guillen Sacoto Amber Begtrup Henry Houlden Janbernd Kirschner David Schorling Sabine Rudnik-Schöneborn Tim M. Strom Steffen Leiz Kali Juliette Randal Richardson Ying Yang Yuehua Zhang Minghui Wang Jia Wang Xiaodong Wang Konrad Platzer Sandra Donkervoort Carsten G. Bönnemann Matias Wagner Mahmoud Y. Issa Hasnaa M. Elbendary Valentina Stanley Reza Maroofian Joseph G. Gleeson Maha S. Zaki Jan Senderek Udai Bhan Pandey
author_sort	Sukhleen Kour
title	Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
title_short	Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
title_full	Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
title_fullStr	Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
title_full_unstemmed	Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
title_sort	loss of function mutations in gemin5 cause a neurodevelopmental disorder
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/89c11aed01764fe28b3d252a2c5bccf7
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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

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