RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis

The RRP7A a gene is involved in ribosome biogenesis. Here the authors report a homozygous missense mutation segregating with primary microcephaly, and show that this occurs via functional defects in both nucleoli and primary cilia disrupting cell proliferation and neurogenesis.

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Autores principales:	Muhammad Farooq, Louise Lindbæk, Nicolai Krogh, Canan Doganli, Cecilie Keller, Maren Mönnich, André Brás Gonçalves, Srinivasan Sakthivel, Yuan Mang, Ambrin Fatima, Vivi Søgaard Andersen, Muhammad S. Hussain, Hans Eiberg, Lars Hansen, Klaus Wilbrandt Kjaer, Jay Gopalakrishnan, Lotte Bang Pedersen, Kjeld Møllgård, Henrik Nielsen, Shahid. M. Baig, Niels Tommerup, Søren Tvorup Christensen, Lars Allan Larsen
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/c99a44aeca8f429fbc9fec881a09e94d
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spelling	oai:doaj.org-article:c99a44aeca8f429fbc9fec881a09e94d2021-12-02T17:32:13ZRRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis10.1038/s41467-020-19658-02041-1723https://doaj.org/article/c99a44aeca8f429fbc9fec881a09e94d2020-11-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-19658-0https://doaj.org/toc/2041-1723The RRP7A a gene is involved in ribosome biogenesis. Here the authors report a homozygous missense mutation segregating with primary microcephaly, and show that this occurs via functional defects in both nucleoli and primary cilia disrupting cell proliferation and neurogenesis.Muhammad FarooqLouise LindbækNicolai KroghCanan DoganliCecilie KellerMaren MönnichAndré Brás GonçalvesSrinivasan SakthivelYuan MangAmbrin FatimaVivi Søgaard AndersenMuhammad S. HussainHans EibergLars HansenKlaus Wilbrandt KjaerJay GopalakrishnanLotte Bang PedersenKjeld MøllgårdHenrik NielsenShahid. M. BaigNiels TommerupSøren Tvorup ChristensenLars Allan LarsenNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Muhammad Farooq Louise Lindbæk Nicolai Krogh Canan Doganli Cecilie Keller Maren Mönnich André Brás Gonçalves Srinivasan Sakthivel Yuan Mang Ambrin Fatima Vivi Søgaard Andersen Muhammad S. Hussain Hans Eiberg Lars Hansen Klaus Wilbrandt Kjaer Jay Gopalakrishnan Lotte Bang Pedersen Kjeld Møllgård Henrik Nielsen Shahid. M. Baig Niels Tommerup Søren Tvorup Christensen Lars Allan Larsen RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis
description	The RRP7A a gene is involved in ribosome biogenesis. Here the authors report a homozygous missense mutation segregating with primary microcephaly, and show that this occurs via functional defects in both nucleoli and primary cilia disrupting cell proliferation and neurogenesis.
format	article
author	Muhammad Farooq Louise Lindbæk Nicolai Krogh Canan Doganli Cecilie Keller Maren Mönnich André Brás Gonçalves Srinivasan Sakthivel Yuan Mang Ambrin Fatima Vivi Søgaard Andersen Muhammad S. Hussain Hans Eiberg Lars Hansen Klaus Wilbrandt Kjaer Jay Gopalakrishnan Lotte Bang Pedersen Kjeld Møllgård Henrik Nielsen Shahid. M. Baig Niels Tommerup Søren Tvorup Christensen Lars Allan Larsen
author_facet	Muhammad Farooq Louise Lindbæk Nicolai Krogh Canan Doganli Cecilie Keller Maren Mönnich André Brás Gonçalves Srinivasan Sakthivel Yuan Mang Ambrin Fatima Vivi Søgaard Andersen Muhammad S. Hussain Hans Eiberg Lars Hansen Klaus Wilbrandt Kjaer Jay Gopalakrishnan Lotte Bang Pedersen Kjeld Møllgård Henrik Nielsen Shahid. M. Baig Niels Tommerup Søren Tvorup Christensen Lars Allan Larsen
author_sort	Muhammad Farooq
title	RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis
title_short	RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis
title_full	RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis
title_fullStr	RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis
title_full_unstemmed	RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis
title_sort	rrp7a links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/c99a44aeca8f429fbc9fec881a09e94d
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RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis

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