Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
tRNAs are linked with their cognate amino acid by aminoacyl tRNA synthetases (ARS). Here, the authors report a developmental encephalopathy associated with biallelic VARS variants (valyl-tRNA synthetase) that lead to loss of function, as determined by several in vitro assays and a vars knockout zebr...
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Nature Portfolio
2019
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oai:doaj.org-article:ea0d836e898d4bdc88b6a0d98d57ecd82021-12-02T17:02:17ZBiallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish10.1038/s41467-018-07953-w2041-1723https://doaj.org/article/ea0d836e898d4bdc88b6a0d98d57ecd82019-02-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-07953-whttps://doaj.org/toc/2041-1723tRNAs are linked with their cognate amino acid by aminoacyl tRNA synthetases (ARS). Here, the authors report a developmental encephalopathy associated with biallelic VARS variants (valyl-tRNA synthetase) that lead to loss of function, as determined by several in vitro assays and a vars knockout zebrafish model.Aleksandra SiekierskaHannah StambergerTine DeconinckStephanie N. OprescuMichèle PartoensYifan ZhangJo SourbronElias AdriaenssensPatrick MullenPatrick WiencekKatia HardiesJeong-Soo LeeHoi-Khoanh GiongFelix DistelmaierOrly ElpelegKatherine L. HelbigJoseph HershSedat IsikayElizabeth JordanEnder KaracaAngela KecskesJames R. LupskiReka Kovacs-NagyPatrick MayVinodh NarayananManuela PendziwiatKeri RamseySampathkumar RangasamyDeepali N. ShindeRonen SpiegelVincent TimmermanSarah von SpiczakIngo HelbigC4RCD Research GroupAR working group of the EuroEPINOMICS RES ConsortiumSarah WeckhuysenChristopher FrancklynAnthony AntonellisPeter de WittePeter De JongheNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-15 (2019) |
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DOAJ |
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Science Q |
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Science Q Aleksandra Siekierska Hannah Stamberger Tine Deconinck Stephanie N. Oprescu Michèle Partoens Yifan Zhang Jo Sourbron Elias Adriaenssens Patrick Mullen Patrick Wiencek Katia Hardies Jeong-Soo Lee Hoi-Khoanh Giong Felix Distelmaier Orly Elpeleg Katherine L. Helbig Joseph Hersh Sedat Isikay Elizabeth Jordan Ender Karaca Angela Kecskes James R. Lupski Reka Kovacs-Nagy Patrick May Vinodh Narayanan Manuela Pendziwiat Keri Ramsey Sampathkumar Rangasamy Deepali N. Shinde Ronen Spiegel Vincent Timmerman Sarah von Spiczak Ingo Helbig C4RCD Research Group AR working group of the EuroEPINOMICS RES Consortium Sarah Weckhuysen Christopher Francklyn Anthony Antonellis Peter de Witte Peter De Jonghe Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish |
| description |
tRNAs are linked with their cognate amino acid by aminoacyl tRNA synthetases (ARS). Here, the authors report a developmental encephalopathy associated with biallelic VARS variants (valyl-tRNA synthetase) that lead to loss of function, as determined by several in vitro assays and a vars knockout zebrafish model. |
| format |
article |
| author |
Aleksandra Siekierska Hannah Stamberger Tine Deconinck Stephanie N. Oprescu Michèle Partoens Yifan Zhang Jo Sourbron Elias Adriaenssens Patrick Mullen Patrick Wiencek Katia Hardies Jeong-Soo Lee Hoi-Khoanh Giong Felix Distelmaier Orly Elpeleg Katherine L. Helbig Joseph Hersh Sedat Isikay Elizabeth Jordan Ender Karaca Angela Kecskes James R. Lupski Reka Kovacs-Nagy Patrick May Vinodh Narayanan Manuela Pendziwiat Keri Ramsey Sampathkumar Rangasamy Deepali N. Shinde Ronen Spiegel Vincent Timmerman Sarah von Spiczak Ingo Helbig C4RCD Research Group AR working group of the EuroEPINOMICS RES Consortium Sarah Weckhuysen Christopher Francklyn Anthony Antonellis Peter de Witte Peter De Jonghe |
| author_facet |
Aleksandra Siekierska Hannah Stamberger Tine Deconinck Stephanie N. Oprescu Michèle Partoens Yifan Zhang Jo Sourbron Elias Adriaenssens Patrick Mullen Patrick Wiencek Katia Hardies Jeong-Soo Lee Hoi-Khoanh Giong Felix Distelmaier Orly Elpeleg Katherine L. Helbig Joseph Hersh Sedat Isikay Elizabeth Jordan Ender Karaca Angela Kecskes James R. Lupski Reka Kovacs-Nagy Patrick May Vinodh Narayanan Manuela Pendziwiat Keri Ramsey Sampathkumar Rangasamy Deepali N. Shinde Ronen Spiegel Vincent Timmerman Sarah von Spiczak Ingo Helbig C4RCD Research Group AR working group of the EuroEPINOMICS RES Consortium Sarah Weckhuysen Christopher Francklyn Anthony Antonellis Peter de Witte Peter De Jonghe |
| author_sort |
Aleksandra Siekierska |
| title |
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish |
| title_short |
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish |
| title_full |
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish |
| title_fullStr |
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish |
| title_full_unstemmed |
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish |
| title_sort |
biallelic vars variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish |
| publisher |
Nature Portfolio |
| publishDate |
2019 |
| url |
https://doaj.org/article/ea0d836e898d4bdc88b6a0d98d57ecd8 |
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