Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Valyl-tRNA synthetase (VARS) charges valyl-tRNA with the amino acid valine, required for translation. Here, the authors describe a progressive epileptic encephalopathy in individuals from five families carrying biallelic mutations in the VARS gene that leave the enzyme activity partially intact.

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Autores principales:	Jennifer Friedman, Desiree E. Smith, Mahmoud Y. Issa, Valentina Stanley, Rengang Wang, Marisa I. Mendes, Meredith S. Wright, Kristen Wigby, Amber Hildreth, John R. Crawford, Alanna E. Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing-Sze Lo, Kiely N. James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan T. Tran, Tarek E. I. Omar, Tawfeg Ben-Omran, David Dimmock, Stephen F. Kingsmore, Gajja S. Salomons, Maha S. Zaki, Geneviève Bernard, Joseph G. Gleeson
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/2b11aa05a4174343ac7596764303089f
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spelling	oai:doaj.org-article:2b11aa05a4174343ac7596764303089f2021-12-02T14:39:20ZBiallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy10.1038/s41467-018-07067-32041-1723https://doaj.org/article/2b11aa05a4174343ac7596764303089f2019-02-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-07067-3https://doaj.org/toc/2041-1723Valyl-tRNA synthetase (VARS) charges valyl-tRNA with the amino acid valine, required for translation. Here, the authors describe a progressive epileptic encephalopathy in individuals from five families carrying biallelic mutations in the VARS gene that leave the enzyme activity partially intact.Jennifer FriedmanDesiree E. SmithMahmoud Y. IssaValentina StanleyRengang WangMarisa I. MendesMeredith S. WrightKristen WigbyAmber HildrethJohn R. CrawfordAlanna E. KoehlerShimul ChowdhuryShareef NahasLiting ZhaiZhiwen XuWing-Sze LoKiely N. JamesDamir MusaevAndrea AccogliKether GuerreroLuan T. TranTarek E. I. OmarTawfeg Ben-OmranDavid DimmockStephen F. KingsmoreGajja S. SalomonsMaha S. ZakiGeneviève BernardJoseph G. GleesonNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Jennifer Friedman Desiree E. Smith Mahmoud Y. Issa Valentina Stanley Rengang Wang Marisa I. Mendes Meredith S. Wright Kristen Wigby Amber Hildreth John R. Crawford Alanna E. Koehler Shimul Chowdhury Shareef Nahas Liting Zhai Zhiwen Xu Wing-Sze Lo Kiely N. James Damir Musaev Andrea Accogli Kether Guerrero Luan T. Tran Tarek E. I. Omar Tawfeg Ben-Omran David Dimmock Stephen F. Kingsmore Gajja S. Salomons Maha S. Zaki Geneviève Bernard Joseph G. Gleeson Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
description	Valyl-tRNA synthetase (VARS) charges valyl-tRNA with the amino acid valine, required for translation. Here, the authors describe a progressive epileptic encephalopathy in individuals from five families carrying biallelic mutations in the VARS gene that leave the enzyme activity partially intact.
format	article
author	Jennifer Friedman Desiree E. Smith Mahmoud Y. Issa Valentina Stanley Rengang Wang Marisa I. Mendes Meredith S. Wright Kristen Wigby Amber Hildreth John R. Crawford Alanna E. Koehler Shimul Chowdhury Shareef Nahas Liting Zhai Zhiwen Xu Wing-Sze Lo Kiely N. James Damir Musaev Andrea Accogli Kether Guerrero Luan T. Tran Tarek E. I. Omar Tawfeg Ben-Omran David Dimmock Stephen F. Kingsmore Gajja S. Salomons Maha S. Zaki Geneviève Bernard Joseph G. Gleeson
author_facet	Jennifer Friedman Desiree E. Smith Mahmoud Y. Issa Valentina Stanley Rengang Wang Marisa I. Mendes Meredith S. Wright Kristen Wigby Amber Hildreth John R. Crawford Alanna E. Koehler Shimul Chowdhury Shareef Nahas Liting Zhai Zhiwen Xu Wing-Sze Lo Kiely N. James Damir Musaev Andrea Accogli Kether Guerrero Luan T. Tran Tarek E. I. Omar Tawfeg Ben-Omran David Dimmock Stephen F. Kingsmore Gajja S. Salomons Maha S. Zaki Geneviève Bernard Joseph G. Gleeson
author_sort	Jennifer Friedman
title	Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
title_short	Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
title_full	Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
title_fullStr	Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
title_full_unstemmed	Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
title_sort	biallelic mutations in valyl-trna synthetase gene vars are associated with a progressive neurodevelopmental epileptic encephalopathy
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/2b11aa05a4174343ac7596764303089f
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Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

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