Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

Asparaginyl-tRNA synthetase1 (NARS1) is required for protein synthesis. Here, the authors identify biallelic NARS1 mutations in individuals with microcephaly and neurodevelopmental delay. Cortical brain organoid modeling recapitulates microcephaly characteristics and scRNA-seq reveals a role for NAR...

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Main Authors:	Lu Wang, Zhen Li, David Sievert, Desirée E. C. Smith, Marisa I. Mendes, Dillon Y. Chen, Valentina Stanley, Shereen Ghosh, Yulu Wang, Majdi Kara, Ayca Dilruba Aslanger, Rasim O. Rosti, Henry Houlden, Gajja S. Salomons, Joseph G. Gleeson
Format:	Article
Language:	English
Published:	Nature Publishing Group 2020-08-01
Series:	Nature Communications
Online Access:	https://doi.org/10.1038/s41467-020-17454-4

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spelling	doaj-cc10dd5665ed408989d1b2eddc9acfe52021-08-15T11:41:52ZengNature Publishing GroupNature Communications2041-17232020-08-0111111210.1038/s41467-020-17454-4Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephalyLu Wang0Zhen Li1David Sievert2Desirée E. C. Smith3Marisa I. Mendes4Dillon Y. Chen5Valentina Stanley6Shereen Ghosh7Yulu Wang8Majdi Kara9Ayca Dilruba Aslanger10Rasim O. Rosti11Henry Houlden12Gajja S. Salomons13Joseph G. Gleeson14Department of Neurosciences, Howard Hughes Medical Institute, University of California San DiegoDepartment of Neurosciences, Howard Hughes Medical Institute, University of California San DiegoDepartment of Neurosciences, Howard Hughes Medical Institute, University of California San DiegoMetabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & MetabolismMetabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & MetabolismRady Children’s Institute for Genomic Medicine, Rady Children’s HospitalDepartment of Neurosciences, Howard Hughes Medical Institute, University of California San DiegoDepartment of Neurosciences, Howard Hughes Medical Institute, University of California San DiegoLaboratory of Biomanufacturing and Food Engineering, Institute of Food Science and Technology, Chinese Academy of Agricultural SciencesUniversity of Tripoli, Tripoli Children’s HospitalDepartment of Medical Genetics, Koç University HospitalDepartment of Neurosciences, Howard Hughes Medical Institute, University of California San DiegoDepartment of Neuromuscular Disorders, UCL Institute of NeurologyMetabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & MetabolismDepartment of Neurosciences, Howard Hughes Medical Institute, University of California San DiegoAsparaginyl-tRNA synthetase1 (NARS1) is required for protein synthesis. Here, the authors identify biallelic NARS1 mutations in individuals with microcephaly and neurodevelopmental delay. Cortical brain organoid modeling recapitulates microcephaly characteristics and scRNA-seq reveals a role for NARS1 in radial glial cell proliferation.https://doi.org/10.1038/s41467-020-17454-4
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Lu Wang Zhen Li David Sievert Desirée E. C. Smith Marisa I. Mendes Dillon Y. Chen Valentina Stanley Shereen Ghosh Yulu Wang Majdi Kara Ayca Dilruba Aslanger Rasim O. Rosti Henry Houlden Gajja S. Salomons Joseph G. Gleeson
spellingShingle	Lu Wang Zhen Li David Sievert Desirée E. C. Smith Marisa I. Mendes Dillon Y. Chen Valentina Stanley Shereen Ghosh Yulu Wang Majdi Kara Ayca Dilruba Aslanger Rasim O. Rosti Henry Houlden Gajja S. Salomons Joseph G. Gleeson Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly Nature Communications
author_facet	Lu Wang Zhen Li David Sievert Desirée E. C. Smith Marisa I. Mendes Dillon Y. Chen Valentina Stanley Shereen Ghosh Yulu Wang Majdi Kara Ayca Dilruba Aslanger Rasim O. Rosti Henry Houlden Gajja S. Salomons Joseph G. Gleeson
author_sort	Lu Wang
title	Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly
title_short	Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly
title_full	Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly
title_fullStr	Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly
title_full_unstemmed	Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly
title_sort	loss of nars1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly
publisher	Nature Publishing Group
series	Nature Communications
issn	2041-1723
publishDate	2020-08-01
description	Asparaginyl-tRNA synthetase1 (NARS1) is required for protein synthesis. Here, the authors identify biallelic NARS1 mutations in individuals with microcephaly and neurodevelopmental delay. Cortical brain organoid modeling recapitulates microcephaly characteristics and scRNA-seq reveals a role for NARS1 in radial glial cell proliferation.
url	https://doi.org/10.1038/s41467-020-17454-4
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Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

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