Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

Subunits of the Elongator complex have been implicated in several nervous system pathologies. Here, the authors identify ELP2 variants in six patients with neurodevelopmental anomalies and show in mouse models that these variants impact protein stability and the activity of the complex during brain...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Marija Kojic, Tomasz Gawda, Monika Gaik, Alexander Begg, Anna Salerno-Kochan, Nyoman D. Kurniawan, Alun Jones, Katarzyna Drożdżyk, Anna Kościelniak, Andrzej Chramiec-Głąbik, Soroor Hediyeh-Zadeh, Maria Kasherman, Woo Jun Shim, Enakshi Sinniah, Laura A. Genovesi, Rannvá K. Abrahamsen, Christina D. Fenger, Camilla G. Madsen, Julie S. Cohen, Ali Fatemi, Zornitza Stark, Sebastian Lunke, Joy Lee, Jonas K. Hansen, Martin F. Boxill, Boris Keren, Isabelle Marey, Margarita S. Saenz, Kathleen Brown, Suzanne A. Alexander, Sergey Mureev, Alina Batzilla, Melissa J. Davis, Michael Piper, Mikael Bodén, Thomas H. J. Burne, Nathan J. Palpant, Rikke S. Møller, Sebastian Glatt, Brandon J. Wainwright
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/04bbd860a4c34da0ae14a920e50e23e1
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:04bbd860a4c34da0ae14a920e50e23e1
record_format	dspace
spelling	oai:doaj.org-article:04bbd860a4c34da0ae14a920e50e23e12021-12-02T16:58:19ZElp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype10.1038/s41467-021-22888-52041-1723https://doaj.org/article/04bbd860a4c34da0ae14a920e50e23e12021-05-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-22888-5https://doaj.org/toc/2041-1723Subunits of the Elongator complex have been implicated in several nervous system pathologies. Here, the authors identify ELP2 variants in six patients with neurodevelopmental anomalies and show in mouse models that these variants impact protein stability and the activity of the complex during brain development.Marija KojicTomasz GawdaMonika GaikAlexander BeggAnna Salerno-KochanNyoman D. KurniawanAlun JonesKatarzyna DrożdżykAnna KościelniakAndrzej Chramiec-GłąbikSoroor Hediyeh-ZadehMaria KashermanWoo Jun ShimEnakshi SinniahLaura A. GenovesiRannvá K. AbrahamsenChristina D. FengerCamilla G. MadsenJulie S. CohenAli FatemiZornitza StarkSebastian LunkeJoy LeeJonas K. HansenMartin F. BoxillBoris KerenIsabelle MareyMargarita S. SaenzKathleen BrownSuzanne A. AlexanderSergey MureevAlina BatzillaMelissa J. DavisMichael PiperMikael BodénThomas H. J. BurneNathan J. PalpantRikke S. MøllerSebastian GlattBrandon J. WainwrightNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-18 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Marija Kojic Tomasz Gawda Monika Gaik Alexander Begg Anna Salerno-Kochan Nyoman D. Kurniawan Alun Jones Katarzyna Drożdżyk Anna Kościelniak Andrzej Chramiec-Głąbik Soroor Hediyeh-Zadeh Maria Kasherman Woo Jun Shim Enakshi Sinniah Laura A. Genovesi Rannvá K. Abrahamsen Christina D. Fenger Camilla G. Madsen Julie S. Cohen Ali Fatemi Zornitza Stark Sebastian Lunke Joy Lee Jonas K. Hansen Martin F. Boxill Boris Keren Isabelle Marey Margarita S. Saenz Kathleen Brown Suzanne A. Alexander Sergey Mureev Alina Batzilla Melissa J. Davis Michael Piper Mikael Bodén Thomas H. J. Burne Nathan J. Palpant Rikke S. Møller Sebastian Glatt Brandon J. Wainwright Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype
description	Subunits of the Elongator complex have been implicated in several nervous system pathologies. Here, the authors identify ELP2 variants in six patients with neurodevelopmental anomalies and show in mouse models that these variants impact protein stability and the activity of the complex during brain development.
format	article
author	Marija Kojic Tomasz Gawda Monika Gaik Alexander Begg Anna Salerno-Kochan Nyoman D. Kurniawan Alun Jones Katarzyna Drożdżyk Anna Kościelniak Andrzej Chramiec-Głąbik Soroor Hediyeh-Zadeh Maria Kasherman Woo Jun Shim Enakshi Sinniah Laura A. Genovesi Rannvá K. Abrahamsen Christina D. Fenger Camilla G. Madsen Julie S. Cohen Ali Fatemi Zornitza Stark Sebastian Lunke Joy Lee Jonas K. Hansen Martin F. Boxill Boris Keren Isabelle Marey Margarita S. Saenz Kathleen Brown Suzanne A. Alexander Sergey Mureev Alina Batzilla Melissa J. Davis Michael Piper Mikael Bodén Thomas H. J. Burne Nathan J. Palpant Rikke S. Møller Sebastian Glatt Brandon J. Wainwright
author_facet	Marija Kojic Tomasz Gawda Monika Gaik Alexander Begg Anna Salerno-Kochan Nyoman D. Kurniawan Alun Jones Katarzyna Drożdżyk Anna Kościelniak Andrzej Chramiec-Głąbik Soroor Hediyeh-Zadeh Maria Kasherman Woo Jun Shim Enakshi Sinniah Laura A. Genovesi Rannvá K. Abrahamsen Christina D. Fenger Camilla G. Madsen Julie S. Cohen Ali Fatemi Zornitza Stark Sebastian Lunke Joy Lee Jonas K. Hansen Martin F. Boxill Boris Keren Isabelle Marey Margarita S. Saenz Kathleen Brown Suzanne A. Alexander Sergey Mureev Alina Batzilla Melissa J. Davis Michael Piper Mikael Bodén Thomas H. J. Burne Nathan J. Palpant Rikke S. Møller Sebastian Glatt Brandon J. Wainwright
author_sort	Marija Kojic
title	Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype
title_short	Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype
title_full	Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype
title_fullStr	Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype
title_full_unstemmed	Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype
title_sort	elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/04bbd860a4c34da0ae14a920e50e23e1
work_keys_str_mv	AT marijakojic elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT tomaszgawda elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT monikagaik elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT alexanderbegg elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT annasalernokochan elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT nyomandkurniawan elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT alunjones elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT katarzynadrozdzyk elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT annakoscielniak elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT andrzejchramiecgłabik elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT soroorhediyehzadeh elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT mariakasherman elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT woojunshim elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT enakshisinniah elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT lauraagenovesi elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT rannvakabrahamsen elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT christinadfenger elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT camillagmadsen elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT juliescohen elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT alifatemi elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT zornitzastark elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT sebastianlunke elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT joylee elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT jonaskhansen elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT martinfboxill elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT boriskeren elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT isabellemarey elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT margaritassaenz elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT kathleenbrown elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT suzanneaalexander elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT sergeymureev elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT alinabatzilla elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT melissajdavis elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT michaelpiper elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT mikaelboden elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT thomashjburne elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT nathanjpalpant elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT rikkesmøller elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT sebastianglatt elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype AT brandonjwainwright elp2mutationsperturbtheepitranscriptomeandleadtoacomplexneurodevelopmentalphenotype
_version_	1718382308622336000

Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

Ejemplares similares