Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa

Mutations in pre-mRNA processing factors cause autosomal dominant retinitis pigmentosa. Here the authors provide insights into the pathophysiological mechanisms underlying non-syndromic retinal disease caused by heterozygous mutations in genes encoding ubiquitously expressed splicing factors.

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Autores principales:	Adriana Buskin, Lili Zhu, Valeria Chichagova, Basudha Basu, Sina Mozaffari-Jovin, David Dolan, Alastair Droop, Joseph Collin, Revital Bronstein, Sudeep Mehrotra, Michael Farkas, Gerrit Hilgen, Kathryn White, Kuan-Ting Pan, Achim Treumann, Dean Hallam, Katarzyna Bialas, Git Chung, Carla Mellough, Yuchun Ding, Natalio Krasnogor, Stefan Przyborski, Simon Zwolinski, Jumana Al-Aama, Sameer Alharthi, Yaobo Xu, Gabrielle Wheway, Katarzyna Szymanska, Martin McKibbin, Chris F. Inglehearn, David J. Elliott, Susan Lindsay, Robin R. Ali, David H. Steel, Lyle Armstrong, Evelyne Sernagor, Henning Urlaub, Eric Pierce, Reinhard Lührmann, Sushma-Nagaraja Grellscheid, Colin A. Johnson, Majlinda Lako
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2018
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/39722a7de98941cab07e48fc0b8400de
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spelling	oai:doaj.org-article:39722a7de98941cab07e48fc0b8400de2021-12-02T14:38:49ZDisrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa10.1038/s41467-018-06448-y2041-1723https://doaj.org/article/39722a7de98941cab07e48fc0b8400de2018-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-06448-yhttps://doaj.org/toc/2041-1723Mutations in pre-mRNA processing factors cause autosomal dominant retinitis pigmentosa. Here the authors provide insights into the pathophysiological mechanisms underlying non-syndromic retinal disease caused by heterozygous mutations in genes encoding ubiquitously expressed splicing factors.Adriana BuskinLili ZhuValeria ChichagovaBasudha BasuSina Mozaffari-JovinDavid DolanAlastair DroopJoseph CollinRevital BronsteinSudeep MehrotraMichael FarkasGerrit HilgenKathryn WhiteKuan-Ting PanAchim TreumannDean HallamKatarzyna BialasGit ChungCarla MelloughYuchun DingNatalio KrasnogorStefan PrzyborskiSimon ZwolinskiJumana Al-AamaSameer AlharthiYaobo XuGabrielle WhewayKatarzyna SzymanskaMartin McKibbinChris F. InglehearnDavid J. ElliottSusan LindsayRobin R. AliDavid H. SteelLyle ArmstrongEvelyne SernagorHenning UrlaubEric PierceReinhard LührmannSushma-Nagaraja GrellscheidColin A. JohnsonMajlinda LakoNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-19 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Adriana Buskin Lili Zhu Valeria Chichagova Basudha Basu Sina Mozaffari-Jovin David Dolan Alastair Droop Joseph Collin Revital Bronstein Sudeep Mehrotra Michael Farkas Gerrit Hilgen Kathryn White Kuan-Ting Pan Achim Treumann Dean Hallam Katarzyna Bialas Git Chung Carla Mellough Yuchun Ding Natalio Krasnogor Stefan Przyborski Simon Zwolinski Jumana Al-Aama Sameer Alharthi Yaobo Xu Gabrielle Wheway Katarzyna Szymanska Martin McKibbin Chris F. Inglehearn David J. Elliott Susan Lindsay Robin R. Ali David H. Steel Lyle Armstrong Evelyne Sernagor Henning Urlaub Eric Pierce Reinhard Lührmann Sushma-Nagaraja Grellscheid Colin A. Johnson Majlinda Lako Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa
description	Mutations in pre-mRNA processing factors cause autosomal dominant retinitis pigmentosa. Here the authors provide insights into the pathophysiological mechanisms underlying non-syndromic retinal disease caused by heterozygous mutations in genes encoding ubiquitously expressed splicing factors.
format	article
author	Adriana Buskin Lili Zhu Valeria Chichagova Basudha Basu Sina Mozaffari-Jovin David Dolan Alastair Droop Joseph Collin Revital Bronstein Sudeep Mehrotra Michael Farkas Gerrit Hilgen Kathryn White Kuan-Ting Pan Achim Treumann Dean Hallam Katarzyna Bialas Git Chung Carla Mellough Yuchun Ding Natalio Krasnogor Stefan Przyborski Simon Zwolinski Jumana Al-Aama Sameer Alharthi Yaobo Xu Gabrielle Wheway Katarzyna Szymanska Martin McKibbin Chris F. Inglehearn David J. Elliott Susan Lindsay Robin R. Ali David H. Steel Lyle Armstrong Evelyne Sernagor Henning Urlaub Eric Pierce Reinhard Lührmann Sushma-Nagaraja Grellscheid Colin A. Johnson Majlinda Lako
author_facet	Adriana Buskin Lili Zhu Valeria Chichagova Basudha Basu Sina Mozaffari-Jovin David Dolan Alastair Droop Joseph Collin Revital Bronstein Sudeep Mehrotra Michael Farkas Gerrit Hilgen Kathryn White Kuan-Ting Pan Achim Treumann Dean Hallam Katarzyna Bialas Git Chung Carla Mellough Yuchun Ding Natalio Krasnogor Stefan Przyborski Simon Zwolinski Jumana Al-Aama Sameer Alharthi Yaobo Xu Gabrielle Wheway Katarzyna Szymanska Martin McKibbin Chris F. Inglehearn David J. Elliott Susan Lindsay Robin R. Ali David H. Steel Lyle Armstrong Evelyne Sernagor Henning Urlaub Eric Pierce Reinhard Lührmann Sushma-Nagaraja Grellscheid Colin A. Johnson Majlinda Lako
author_sort	Adriana Buskin
title	Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa
title_short	Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa
title_full	Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa
title_fullStr	Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa
title_full_unstemmed	Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa
title_sort	disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes prpf31 retinitis pigmentosa
publisher	Nature Portfolio
publishDate	2018
url	https://doaj.org/article/39722a7de98941cab07e48fc0b8400de
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Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa

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